Key Points
Question
Does participation in a peer-delivered self-management intervention in addition to care as usual lead to better acceptance of a disease compared with care as usual alone for patients with rare diseases?
Findings
In a randomized clinical trial of 89 adults with rare diseases, patients in the intervention group reported significantly higher acceptance of their disease 6 months after the intervention in comparison with the control group.
Meaning
Participation in a brief intervention that combines targeted self-management modules and peer support helps patients with rare chronic diseases cope better than receiving only care as usual.
Abstract
Importance
Patients coping with rare diseases need psychosocial support.
Objective
To evaluate the efficacy of a brief, transdiagnostic, peer-delivered intervention for patients with rare diseases in addition to care as usual (CAU) compared with CAU only.
Design, Setting, and Participants
In this 2-group randomized clinical trial conducted from October 5, 2017, to July 12, 2019, patients were recruited via specialized clinics and patient organizations across Germany and participated from home. The study included consecutive adult patients with neurofibromatosis type 1, Marfan syndrome, primary sclerosing cholangitis, and pulmonary arterial hypertension who have limited functionality because of the disease. Exclusion criteria were a life-threatening health status and ongoing psychotherapeutic treatment. Of 143 patients screened for eligibility with a semistructured telephone interview, 54 were excluded, and 89 were randomized: 45 patients were randomly allocated to the peer-delivered intervention group, and 44 to the control group; 87 patients (98%) completed the 6-month follow-up assessment. The analysis was performed using an intention-to-treat principle. Data cleansing and analysis were conducted between April 25, 2019, and February 13, 2020.
Interventions
The 6-week intervention consisted of a self-help book and telephone-based peer counseling in addition to CAU. The control group received CAU alone. Peer counselors received training, structured consultation guidelines, and supervision.
Main Outcomes and Measures
The primary outcome was acceptance of the disease as assessed using the Illness Cognition Questionnaire (ICQ; mean sum scores range from 0 to 18, with higher values representing more acceptance) 6 months after the intervention. Secondary outcomes included self-reported coping strategies (Health Education Impact Questionnaire), illness cognition (ICQ and Illness Perception Questionnaire), depression severity (Patient Health Questionnaire 9-item depression scale), anxiety severity (Generalized Anxiety Disorder Scale), quality of life (12-Item Short-Form Health Survey), and social support (Social Support Questionnaire). Outcomes were assessed before the intervention, after the intervention, and at a 6-month follow-up.
Results
The mean (SD) age of the 89 participating patients was 46.3 (14.9) years; 59 (66%) were women. There were no group differences regarding baseline variables. All patients allocated to the intervention group completed the intervention. Six months after the intervention, but not directly after completing the program, the intervention group had significantly higher rates of acceptance (ICQ) of the disease (primary outcome) compared with the CAU group. Mean (SD) baseline ICQ scores were 9.61 (3.79) in the control group and 9.86 (3.40) in the intervention group. Mean (SE) ICQ scores at 6 months were 10.32 (0.42) for the control group and 11.79 (0.42) for the intervention group, with a significant mean difference of −1.47 (95% CI, −2.63 to −0.31; P = .01). Several secondary outcomes, including different coping strategies, social support, and mental quality of life, were significantly higher after the intervention compared with the control group.
Conclusions and Relevance
In this randomized clinical trial, a self-help and peer counseling intervention improved patients’ acceptance of their rare chronic diseases. Self-management and peer support can efficiently address the unique care needs of patients with rare diseases.
Trial Registration
isrctn.org Identifier: ISRCTN13738704
This randomized clinical trial evaluates the efficacy of a brief, transdiagnostic, peer-delivered intervention for patients with rare diseases in addition to care as usual compared with care as usual only.
Introduction
There are more than 6000 rare diseases, with differing symptoms and courses, occurring at a prevalence of less than 1 case per 2000 individuals.1 Most rare diseases are chronic, progressive, life threatening, and disabling.2 Owing to the number of rare diseases worldwide, 300 million people are affected by one.3 With each single condition being rare, affected patients lack information on the course of their disease and treatment; geographical spread leads to difficult access to adequate care and a lack of contact with peers with the same disease.1,4 Often, a patient with a rare chronic condition will appear as one of a kind in primary care, creating challenges for both patient and health care professional.
Living with a chronic condition demands psychosocial adjustment to maintain quality of life despite the persisting burden of the disease.5 When dealing with a chronic condition, acceptance of the disease may contribute to better adjustment. For patients with chronic pain, acceptance was associated with more emotional stability, less psychological distress,6 better mental well-being,7 and higher quality of life.8 When patients’ care needs were assessed, patients with rare diseases also reported that accepting their condition was a turning point in their adjustment to living with a chronic condition.
From a health care perspective, one way to help patients with chronic diseases is by supporting them to accept, adjust to, and live with their condition.9 Self-management interventions aim at supporting patients as active participants in their treatment, dealing with the physical and psychological consequences of a chronic disease and changes in lifestyle.10,11 Their effectiveness has been proven for different chronic conditions (eg, chronic obstructive pulmonary disease12,13 and diabetes14,15). The particular burden of patients with rare diseases (eg, lack of information and contact with peers with the same disease) is often not addressed in care. A generic intervention addressing the shared needs of patients across rare diagnoses may be an economical way to provide access to care for this large group, for which disease-specific approaches are not feasible because of the many small subgroups. Delivery of such an intervention by peer counselors holds the potential to address the care needs of patients with rare diseases by bringing them in touch with others with the same disease. Trained lay counselors have delivered self-management interventions effectively and in a cost-efficient manner.16 Telephone-based support helps to reach patients despite their being geographically spread throughout the world.
The aim of the present study was to assess the efficacy of a tailored self-management and peer counseling intervention in addition to care as usual (CAU) compared with CAU alone. The primary hypothesis of the study was that participants in the intervention group would show higher acceptance of the disease compared with the control group 6 months after the intervention. Secondary hypotheses were that patients in the intervention group would show higher rates in several other coping strategies (eg, constructive attitudes and health service navigation), improved illness perceptions and cognitions (eg, better control of the disease and less helplessness), and higher quality of life and social support, as well as reduced depression, anxiety, and somatic symptom severity.
Methods
Study Design and Participants
This study was a single-center, 2-group, randomized clinical trial with a CAU control group, registered in the ISRCTN registry (ISRCTN13738704) (trial protocol in Supplement 1). We included patients with 1 of 4 rare chronic conditions (neurofibromatosis type 1, Marfan syndrome, primary sclerosing cholangitis, or pulmonary arterial hypertension). We specifically chose conditions being treated at the University Medical Center Hamburg-Eppendorf in Hamburg, Germany; all of the conditions chosen are disabling yet heterogeneous, hence suitable to evaluate the cross-diagnostic approach. Inclusion criteria were subjective need for improved coping with their disease, a minimum age of 16 years, sufficient German language skills, and provision of written informed consent. Exclusion criteria were a life-threatening health status; acute suicidality; current receipt of psychotherapeutic, psychosomatic, or psychiatric treatment (occurring more than once per quarter); severe cognitive, auditory, or visual impairment; and inability to answer study questionnaires. Eligibility was assessed in a semistructured telephone interview. Participants found eligible were randomly allocated to either the intervention group, including the peer-delivered intervention in addition to CAU or a CAU alone control group, with concealed, simple randomized assignment using an internet-based procedure. In both study groups, CAU entails the patient’s usual medical treatment without any interference by the study. Participants assigned to the control group could participate in the intervention after the 6-month follow-up assessment. Participants completed questionnaires and the intervention from home. We recruited via specialized outpatient clinics for rare diseases at the University Medical Center Hamburg-Eppendorf as well as via patient organizations and self-help groups for rare diseases across Germany, between October 5, 2017, and September 28, 2018. The last patient in the intervention group finished the intervention on December 12, 2018, and the last assessment was on July 12, 2019. The independent ethics committee of the Hamburg Medical Chamber approved the study on February 2, 2016. We extended the recruitment period to achieve a sufficiently large sample size. We made no further changes after trial commencement. Patients provided written informed consent. This study followed the Consolidated Standards of Reporting Trials (CONSORT) reporting guideline.
Peer counselors were recruited via patient organizations and underwent a structured telephone interview, in which we explained the program and evaluated their suitability. We chose peer counselors with the same 4 conditions as study participants who were coping well with their disease, supported the program, and had sufficient time to participate. Eligible peer counselors were invited to a training session, conducted at the University Medical Center Hamburg-Eppendorf. Overall, 24 peer counselors were trained in one of six 2-day training sessions with 4 to 6 attendants; 19 completed at least 1 intervention. Peer counselors consulted a mean (SD) of 4.11 (1.76) patients (range, 1.00-8.00 patients).
Interventions
The intervention was tailored to the patients’ needs, assessed in a quantitative online study and a qualitative focus group study investigating problems and support needs.4,9,17 The intervention included a module with disease-specific information because of a lack of knowledge about the conditions among patients and health care professionals.4,17 The intervention was peer delivered to counteract feelings of isolation18 and because patients expressed a need for contact with peers with the same disease.4 Peer counselors additionally shared their disease-specific experiences. The intervention was manual- and telephone-based because patients are geographically spread across the country owing to the rarity of the conditions. To aid maintaining, changing, and creating new meaningful behaviors or life roles,11 we used an approach based on acceptance and commitment therapy (ACT),19,20 which has been applied for a wide range of chronic conditions.21 Figure 1 illustrates the framework and components of the intervention. The 6-week intervention combines structured self-management, an ACT-based manual, and peer counseling. The first chapter of the manual is disease specific, containing information about the disease, how to deal with medical information on the internet, and questions about the impact of the disease on the patient’s own life. The other 5 chapters of the manual are generic—they address difficult feelings, acceptance, personal values, and value-oriented goals. After each chapter, participants received a 30-minute telephone-based peer counseling session. These modules aimed at helping with experiential acceptance, values, and committed action as defined in ACT.21 The primary aim of the semistructured counseling sessions was to reflect on the corresponding chapter.
Figure 1. Overview of the Intervention Combining Self-management and Peer Counseling.
Peer counselors received a 2-day training, structured consultation guidelines, and supervision. The training included working through the manual themselves, group discussion on the manual, and exercises on counseling techniques. The guideline contained additional information on each chapter of the manual and example questions for the respective consultation session. Supervision, provided by a psychotherapist, was mandatory after the first consultation session and demand based afterward. In case of any other questions or problems, peer counselors could contact the research team at any time. Peer counselors completed a structured documentation form after every session to record deviations from the manual and extraordinary events. If possible, peer counselors were matched with patients with the same disease, thereby providing disease-specific expertise. If no peer counselor with the same disease was available, cross-diagnostic dyads were formed. Another matching criterion was that participants and peer counselors did not know each other. The control group received CAU only.
Outcomes
Data assessment took place before the intervention, directly after the intervention, and 6 months after the intervention had ended. The primary outcome was acceptance of the disease, assessed using the acceptance subscale of the Illness Cognition Questionnaire (ICQ; mean sum scores range from 0 to 18, with higher values representing more acceptance),22 6 months after the intervention had ended. The Illness Cognition Questionnaire is a self-report instrument assessing patients’ cognitive appraisal of the disease. It has been validated in different patient samples, showing good concurrent validity,22 high internal consistency, and high test-retest reliability.23 We hypothesized that patients in the intervention group would have a significantly higher rate of acceptance of the disease than those in the control group 6 months after the intervention. Secondary outcomes included changes in coping mechanisms (assessed using the Health Education Impact Questionnaire),24,25 health-related quality of life (assessed using the 12-Item Short-Form Health Survey),26 illness perceptions (assessed using the Illness Perception Questionnaire),27 depression severity (assessed using Patient Health Questionnaire 9-item depression scale [PHQ-9]),28,29 anxiety severity (assessed using Generalized Anxiety Disorder Scale),30,31 somatic symptom severity (assessed using Patient Health Questionnaire 15-item depression scale [PHQ-15]),32 social support (Social Support Questionnaire),33 and helplessness and perceived benefits (Illness Cognition Questionnaire).22 Because all of the outcomes were self-reported, no observer bias was introduced.
Sample Size Calculation
We aimed at recruiting a total of 128 patients (64 in each group) based on 2-sided hypothesis testing with α = .05, a power of 1 − β = 0.8, and an assumed mean between-groups effect size of d = 0.5.
Statistical Analysis
We performed all tests 2-sided and considered P < .05 as statistically significant. Methods to address missing data were applied if more than 10% for an outcome was missing (eFigure and eAppendix 2 in Supplement 2). We calculated descriptive measures for all variables and examined group differences at baseline with t tests for independent samples for continuous data and χ2 tests for categorical data. To test our hypotheses accounting for nonindependence of observations, we performed a hierarchical linear model with an identity covariance structure. We used the restricted maximum likelihood method to produce estimates. The model included time (2 staged) and group as factors, time as repeated effect, and the time × group interaction. We included the baseline outcome score as a covariate and included a random intercept to model interindividual differences. To assess group differences for each time point, we determined the estimated marginal mean values and calculated effect sizes by dividing the adjusted group mean difference by the observed SD of the total sample at baseline. All model specifications were defined a priori—we did not conduct any adjustments to the model based on model fit parameters. We checked model assumptions by plotting residuals against estimated values and residual distribution against normal distribution. The analysis was performed using an intention-to-treat principle. We used SPSS, version 23.0.0 (IBM Corp) for data analysis. Data cleansing and analysis were conducted between April 25, 2019, and February 13, 2020. Statistical analysis was performed on the data of 89 participants of the study. Secondary outcomes were not corrected for multiple testing and should be considered exploratory.
Results
Sample
We assessed 143 patients for eligibility, and 89 (62%) were randomized (Figure 2). The mean (SD) age of the 89 participating patients was 46.3 (14.9) years (range, 17.9-82.0 years); 59 (66%) were women. Patients with primary sclerosing cholangitis (41 [46%]), neurofibromatosis (22 [25%]), pulmonary arterial hypertension (15 [17%]), and Marfan syndrome (11 [12%]) were included. Forty-five patients (51%) were randomized to the intervention group, and 44 patients (49%) were randomized to the control group. In 4 of 45 cases (9%), transdiagnostic dyads were formed. All patients in the intervention group completed the program. There was a loss to postassessment of 2% (n = 2) and a loss to 6-month follow-up of 2% (n = 2), equal for the intervention group and the control group (Figure 2). We did not reach the originally planned sample size owing to slower than anticipated recruitment. Less than 10% of data were missing for all outcomes except for 1 scale (PHQ-15; before the intervention and 6 months after the intervention, 9 of 89 [10.1%]; directly after the intervention, 11 of 89 [12.4%]; eFigure and eAppendix 2 in Supplement 2). The assessed demographic and clinical characteristics did not differ between the groups (Table 1).
Figure 2. Patient Flow Through the Study.
Flow of participants throughout the assessments at baseline, after intervention, and at 6-month follow up. MFS indicates Marfan syndrome; NF, neurofibromatosis; PAH, pulmonary arterial hypertension; and PSC, primary sclerosing cholangitis.
Table 1. Baseline Demographic and Clinical Characteristics of Randomized Participantsa.
| Characteristic | Participants, No. (%) | Group comparison | P value | ||
|---|---|---|---|---|---|
| Total (N = 89) | Intervention group (n = 45) | Control group (n = 44) | |||
| Age, mean (SD), y | 46.3 (14.9) | 46.5 (14.7) | 46.1 (15.2) | t82 = –0.12 | .90 |
| Sex | |||||
| Female | 59 (66) | 34 (76) | 25 (57) | χ21 = 3.50 | .06 |
| Male | 30 (34) | 11 (24) | 19 (43) | ||
| Nationality | |||||
| German | 86 (97) | 44 (98) | 42 (96) | χ21 = 0.37 | .54 |
| Otherb | 3 (3) | 1 (2) | 2 (5) | ||
| Family status | |||||
| Single | 35 (39) | 17 (38) | 18 (41) | χ25 = 3.88 | .57 |
| Married | 37 (42) | 19 (42) | 18 (41) | ||
| Living separately | 4 (5) | 1 (2) | 3 (7) | ||
| Divorced | 8 (9) | 5 (11) | 3 (7) | ||
| Widowed | 3 (3) | 1 (2) | 2 (5) | ||
| Other | 2 (2) | 2 (4) | 0 | ||
| Current living situation | |||||
| Alone | 21 (24) | 10 (22) | 11 (25) | χ25 = 5.09 | .41 |
| With partner | 35 (39) | 20 (44) | 15 (34) | ||
| Alone with children | 3 (3) | 0 | 3 (7) | ||
| With children and partner | 19 (21) | 8 (18) | 11 (25) | ||
| With parents | 6 (7) | 4 (9) | 2 (5) | ||
| Other | 5 (6) | 3 (7) | 2 (5) | ||
| Main diagnosis | |||||
| Neurofibromatosis | 22 (25) | 10 (22) | 12 (27) | χ23 = 5.30 | .15 |
| Marfan syndrome | 11 (12) | 9 (20) | 2 (5) | ||
| Primary sclerosing cholangitis | 41 (46) | 18 (40) | 23 (52) | ||
| Pulmonary arterial hypertension | 15 (17) | 8 (18) | 7 (16) | ||
| Psychotherapy | |||||
| Never | 45 (51) | 24 (53) | 21 (48) | χ22 = 2.18 | .34 |
| In the past | 41 (46) | 21 (47) | 20 (46) | ||
| Currently | 2 (2) | 0 | 2 (5) | ||
| Family members with the same diagnosis | |||||
| Yes | 25 (28) | 14 (31) | 11 (25) | χ21 = 0.41 | .52 |
| No | 64 (72) | 31 (69) | 33 (75) | ||
| Visible symptoms | |||||
| Yes | 33 (37) | 18 (40) | 15 (34) | χ21 = 0.44 | .51 |
| No | 55 (62) | 26 (58) | 29 (66) | ||
| No. of physician visits within the past 4 wk, mean (SD) | 2.2 (1.7) | 2.2 (1.7) | 2.3 (1.7) | t86 = –1.15 | .25 |
| No. of days within the past 2 wk with limited functioning, mean (SD) | 2.2 (4.0) | 2.7 (4.5) | 1.7 (3.3) | t86 = 0.15 | .88 |
Some cell groups do not add up to the sample sizes given in the column headings owing to missing values.
Polish (n = 1), Venezuelan (n = 1), and French (n = 1).
Completion Rate and Treatment Fidelity
All participants in the intervention group completed the program (Figure 1). The peer counselors’ mean (SD) assessment score for adherence was 8.00 (1.33) on a scale of 0 (not following the manual) to 10 (fully in accordance with the manual), reflecting a high level of adherence. Participants completed work on 92% of the chapters (5.5 of 6), according to their peer counselors. Of 44 participants in the control group, 33 (75%) chose to participate in the intervention after follow-up, and 31 (71%) completed the intervention.
Primary Outcome: Acceptance of the Disease
At baseline and directly after the intervention, the mean (SD) acceptance score, assessed with the Illness Cognition Questionnaire, did not differ significantly between the intervention and the control group (baseline, 9.86 [3.40] vs 9.61 [3.79]; directly after the intervention, 11.07 [0.42] vs 10.56 [0.42]) (Table 2). At the primary outcome assessment, 6 months after the intervention, acceptance of the disease was significantly higher in the intervention group. Mean (SD) baseline ICQ scores were 9.61 (3.79) in the control group and 9.86 (3.40) in the intervention group. Mean (SE) ICQ scores at 6 months were 10.32 (0.42) for the control group and 11.79 (0.42) for the intervention group, with a significant mean difference of –1.47 (95% CI, –2.63 to –0.31; P = .01) and an effect size of d = 0.41. The slopes of both groups are displayed in Figure 3. Table 2 shows the results of the primary and secondary outcomes (see eAppendix 1 and eTables 2-4 in Supplement 2 for model coefficients).
Table 2. Results of the Hierarchical Linear Model Showing the Mean Group Difference for All Primary and Secondary Outcomes.
| Time | Control group | Intervention group | Adjusted effect estimates | ||||
|---|---|---|---|---|---|---|---|
| No. | Score, mean (SD/SE)a | No. | Score, mean (SD/SE)a | Mean group difference (95% CI) | P value | d | |
| Primary outcome | |||||||
| ICQ: acceptance of the disease | |||||||
| t0 | 44 | 9.61 (3.79) | 43 | 9.86 (3.40) | NA | NA | NA |
| t1 | 43 | 10.56 (0.42) | 44 | 11.07 (0.42) | –0.51 (–1.76 to 0.65) | .39 | 0.14 |
| t2 | 43 | 10.32 (0.42) | 44 | 11.79 (0.42) | –1.47 (–2.63 to –0.31) | .01 | 0.41 |
| Secondary outcomes | |||||||
| HEIQ: positive and active engagement in life | |||||||
| t0 | 44 | 2.56 (0.82) | 45 | 2.52 (0.77) | NA | NA | NA |
| t1 | 43 | 2.58 (0.10) | 44 | 2.72 (0.10) | –0.14 (–0.41 to 0.13) | .31 | 0.18 |
| t2 | 43 | 2.54 (0.10) | 44 | 2.67 (0.10) | –1.30 (–0.40 to 0.14) | .34 | 0.17 |
| HEIQ: health-directed activities | |||||||
| t0 | 44 | 2.29 (1.08) | 45 | 2.12 (0.93) | NA | NA | NA |
| t1 | 43 | 2.06 (0.13) | 44 | 2.52 (0.13) | –0.46 (–0.81 to –0.11) | .01 | 0.46 |
| t2 | 43 | 2.18 (0.13) | 44 | 2.55 (0.13) | –0.37 (–0.72 to –0.20) | .04 | 0.37 |
| HEIQ: skill and technique acquisition | |||||||
| t0 | 44 | 2.41 (0.89) | 45 | 2.43 (0.83) | NA | NA | NA |
| t1 | 41 | 2.48 (0.08) | 43 | 2.83 (0.08) | –0.35 (–0.58 to –0.13) | .003 | 0.41 |
| t2 | 43 | 2.45 (0.08) | 44 | 2.83 (0.08) | –0.38 (–0.60 to –0.15) | .001 | 0.44 |
| HEIQ: constructive attitudes and approaches | |||||||
| t0 | 44 | 2.85 (0.86) | 45 | 2.78 (0.68) | NA | NA | NA |
| t1 | 43 | 2.75 (0.09) | 43 | 3.09 (0.09) | –0.34 (–0.60 to –0.08) | .01 | 0.44 |
| t2 | 43 | 2.76 (0.09) | 44 | 2.93 (0.09) | –0.17 (–0.43 to 0.09) | .19 | 0.34 |
| HEIQ: self-monitoring and insight | |||||||
| t0 | 44 | 2.70 (0.73) | 43 | 2.88 (0.56) | NA | NA | NA |
| t1 | 43 | 2.79 (0.07) | 43 | 3.09 (0.07) | –0.30 (–0.50 to –0.10) | .004 | 0.47 |
| t2 | 43 | 2.68 (0.07) | 44 | 3.07 (0.07) | –0.39 (–0.59 to –0.18) | <.001 | 0.60 |
| HEIQ: health service navigation | |||||||
| t0 | 43 | 2.99 (0.63) | 44 | 2.85 (0.73) | NA | NA | NA |
| t1 | 43 | 2.89 (0.10) | 43 | 3.07 (0.10) | –0.19 (–0.46 to 0.09) | .18 | 0.26 |
| t2 | 43 | 2.80 (0.10) | 44 | 3.20 (0.10) | –0.40 (–0.67 to –0.13) | .004 | 0.59 |
| PHQ-9: depression | |||||||
| t0 | 43 | 7.12 (4.66) | 43 | 7.86 (4.39) | NA | NA | NA |
| t1 | 40 | 6.81 (0.60) | 43 | 6.24 (0.58) | 0.57 (–1.07 to 2.21) | .49 | 0.13 |
| t2 | 43 | 7.19 (0.58) | 42 | 6.41 (0.58) | 0.78 (–0.85 to 2.40) | .35 | 0.17 |
| GAD-7: anxiety | |||||||
| t0 | 44 | 5.89 (4.27) | 44 | 7.52 (4.63) | NA | NA | NA |
| t1 | 43 | 5.81 (0.52) | 44 | 5.23 (0.52) | 0.58 (–0.87 to 2.03) | .43 | 0.12 |
| t2 | 43 | 6.76 (0.52) | 44 | 5.37 (0.52) | 1.39 (–0.06 to 2.84) | .06 | 0.31 |
| F-SozU: social support | |||||||
| t0 | 44 | 3.05 (0.69) | 45 | 2.84 (0.85) | NA | NA | NA |
| t1 | 43 | 2.91 (0.09) | 44 | 3.16 (0.09) | –0.25 (–0.50 to 0.00) | .05 | 0.32 |
| t2 | 43 | 2.84 (0.09) | 44 | 3.15 (0.09) | –0.31 (–0.56 to –0.06) | .02 | 0.40 |
| SF-12: mental | |||||||
| t0 | 44 | 47.59 (11.41) | 44 | 44.10 (10.26) | NA | NA | NA |
| t1 | 43 | 45.23 (1.39) | 44 | 49.60 (1.38) | –4.37 (–8.25 to –0.49) | .03 | 0.40 |
| t2 | 43 | 44.90 (1.39) | 44 | 48.42 (1.38) | –3.52 (–7.40 to 0.36) | .08 | 0.32 |
| SF-12: physical | |||||||
| t0 | 44 | 42.67 (10.84) | 44 | 40.25 (11.46) | NA | NA | NA |
| t1 | 43 | 41.17 (1.09) | 44 | 41.32 (1.08) | –0.16 (–3.20 to 2.88) | .92 | 0.01 |
| t2 | 43 | 42.28 (1.09) | 44 | 42.74 (1.08) | –0.46 (–3.50 to 2.59) | .77 | 0.04 |
| PHQ-15 | |||||||
| t0 | 39 | 9.48 (4.66) | 41 | 11.22 (4.94) | NA | NA | NA |
| t1 | 37 | 9.15 (0.52) | 41 | 9.29 (0.50) | –0.15 (–1.57 to 1.28) | .84 | 0.03 |
| t2 | 39 | 9.05 (0.51) | 41 | 8.90 (0.50) | 0.16 (–1.26 to 1.58) | .83 | 0.03 |
| ICQ: helplessness | |||||||
| t0 | 42 | 6.07 (4.34) | 44 | 6.96 (4.03) | NA | NA | NA |
| t1 | 42 | 6.26 (0.46) | 43 | 5.66 (0.45) | 0.61 (–0.66 to 1.87) | .35 | 0.14 |
| t2 | 42 | 6.25 (0.46) | 43 | 4.94 (0.45) | 1.32 (0.05 to 2.60) | .04 | 0.32 |
| ICQ: perceived benefits | |||||||
| t0 | 41 | 9.81 (3.94) | 45 | 9.82 (4.57) | NA | NA | NA |
| t1 | 42 | 10.27 (0.44) | 43 | 10.87 (0.42) | –0.60 (–1.81 to 0.61) | .33 | 0.14 |
| t2 | 42 | 10.22 (0.44) | 43 | 11.33 (0.42) | –1.11 (–2.32 to 0.10) | .07 | 0.26 |
Abbreviations: F-SozU, Fragebogen zur sozialen unterstützung (social support questionnaire); GAD-7, 7-item short form of the Generalized Anxiety Disorder Scale; HEIQ, Health Education Impact Questionnaire; ICQ, Illness Cognition Questionnaire; NA, not applicable; PHQ-9, 9-item depression scale of the Patient Health Questionnaire; PHQ-15, 15-item somatic scale of the Patient Health Questionnaire; SF-12 mental, psychological scale of the Short-Form Health Survey; SF-12 physical, physical scale of the Short-Form Health Survey; t0, baseline assessment; t1, postassessment; t2, 6-month follow-up.
The t0 values represent observed mean (SD) scores with standard deviation; t1 and t2 scores represent model-based mean (SE) estimates.
Figure 3. Baseline-Adjusted Trajectories of Acceptance of the Disease.
Baseline values represent observed mean values; postassessment and follow-up values represent model-based estimates. Acceptance was assessed with the Illness Cognition Questionnaire. Error bars indicate SEs.
Secondary Outcomes
At baseline, there were no differences between the intervention and the control group in the assessed secondary outcomes (Table 2). After the program, the intervention group had significantly higher mean (SE) scores than the control group regarding different coping strategies: health-directed activities both directly after the intervention (2.52 [0.13] vs 2.06 [0.13]; P = .01) and at 6-month follow-up assessment (2.55 [0.13] vs 2.18 [0.13]; P = .04), skill and technique acquisition directly after the intervention (2.83 [0.08] vs 2.48 [0.08]; P = .003) and at 6-month follow-up (2.83 [0.08] vs 2.45 [0.08]; P = .001), self-monitoring and insight directly after the intervention (3.09 [0.07] vs 2.79 [0.07]; P = .004) and at 6-month follow-up assessment (3.07 [0.07] vs 2.68 [0.07]; P < .001), constructive attitudes and approaches directly after the intervention (3.09 [0.09] vs 2.75 [0.09]; P = .01), and health service navigation at 6-month follow-up (3.20 [0.10] vs 2.80 [0.10]; P = .004). Moreover, the intervention group showed higher social support (mean [SE], 3.15 [0.09] vs 2.84 [0.09]; P = .02) and less helplessness at the 6-month follow-up (mean [SE], 4.94 [0.45] vs 6.25 [0.46]; P = .04) as well as higher mental quality of life directly after the intervention (mean [SE], 49.60 [1.38] vs 45.23 [1.39]; P = .03). We found no significant group differences regarding depression, anxiety, somatic symptom severity, physical quality of life, perceived benefits of the disease, and the subscales of the Illness Perception Questionnaire (eTable 1 in Supplement 2). The number of physician visits within the past 4 weeks and the number of days with limited functioning within the past 2 weeks also did not differ significantly between the groups directly after the intervention and at the 6-month follow-up assessment.
Discussion
To our knowledge, this study was the first randomized clinical trial evaluating a self-management intervention for patients with a range of rare chronic diseases. The intervention group showed a significantly better acceptance of the disease compared with the control group 6 months after completing the program, in support of the primary hypothesis. Several coping strategies were more pronounced among participants in the intervention group; these patients showed higher perceived social support and mental quality of life and lower helplessness compared with those in the CAU group. The finding that all patients completed the intervention demonstrates high acceptance and feasibility of the program for patients with rare diseases.
Acceptance-based treatment for patients with chronic conditions has been empirically supported.21 In the present study, the group differences in acceptance of the disease evolved during the 6 months after the intervention. We had anticipated that developing acceptance toward a chronic condition is a protracted process. The intervention targeted acceptance by introducing the distinction of things that can and cannot be changed, while illustrating the costs of the latter. This perspective of experiential acceptance may have been used and transfered over time, leading to the delayed effect. Fostering meaningful activity in the presence of distress has been argued as a key feature that makes ACT a suitable, transdiagnostic approach for patients with chronic conditions.21 Studies in different patient samples showed that acceptance can lead to better mental health and increased quality of life.6,7,8 Immediately after the intervention, experience of social support, several coping strategies, and mental health were more pronounced in the intervention group, indicating the efficacy of the intervention in further ways. The intervention and CAU groups did not differ after the intervention regarding depression or anxiety. The baseline PHQ-9 score for depressive symptoms and Generalized Anxiety Disorder Scale total scores for anxiety symptoms were below the respective cutoff values that indicate clinically relevant symptom burden.29,30 These low depression and anxiety scores at baseline make change in these variables unlikely.
These findings support the reasoning that a focus on common experiences and emotional consequences can help to improve care for a large group of patients that consists of many often-overlooked subgroups. In line with previous research that proved cross-diagnostic self-management programs to be helpful for patients with common chronic conditions,11,16 the cross-diagnostic approach has helped patients with different rare diseases. This study is also a proof of concept, exemplifying that peer support and telephone-based delivery of the intervention helped patients with rare diseases. The results are in line with the proposal of peer support for hard-to-reach patients.18 Connecting patients and peer counselors with similar experiences appears to answer a need of the geographically widespread group of patients; it may have fostered the increase in experienced social support after the intervention in our study.
Strengths and Limitations
This study has some strengths. The cross-diagnostic approach is a major strength of the program because it addresses a gap in care. Aside from the first chapter, patients with 4 heterogeneous conditions received the same program. Owing to the small subgroups, we did not examine whether there were any diagnosis-specific differences in response to the program.
This study also has some limitations. A major limitation is that, because we did not reach our originally planned sample size of 128 patients, type II error may be moderately higher, which may have led to overlooking relevant intervention effects. It remains to be further investigated whether the results are generalizable to patients with other rare chronic conditions. A source of bias could be that neither research team nor patients were blinded to the group allocation. Patients’ expectations may have influenced the effect of the program. However, since outcomes were assessed via self-report, no observer bias could have been introduced. To assess treatment fidelity, we relied on self-reporting by the peer counselor; we did not record sessions to ensure delivery of key session components, appropriate use of time in session, or counseling competence. Based on the design of the randomized clinical trial, we cannot dismantle the effects of the elements of the intervention (ie, peer support, information, and ACT modules) or the effect of time and attention provided to the intervention group compared with a CAU control group.
Conclusions
This randomized clinical trial found that a brief, peer-delivered intervention led to more acceptance by patients of their rare diseases. Peer-to-peer approaches can be a valuable component of comprehensive health care by integrating patients’ expertise. The novel intervention targets the shared needs of a large group of patients, thereby presenting a promising and feasible approach to improve care for patients with rare chronic conditions.
eAppendix 1. Model Coefficients
eAppendix 2. Handling of Missing Data
eTable 1. Results of the Hierarchical Linear Model Showing the Estimated Mean Group Difference for Additional Secondary Outcomes
eTable 2. Model Coefficients of the Hierarchical Linear Model
eTable 3. Model Coefficients of the Hierarchical Linear Model for Secondary Outcomes
eTable 4. Model Coefficients of the Hierarchical Linear Model for Additional Secondary Outcomes
eFigure. Handling of Missing Data
eReferences.
References
- 1.EURORDIS. What is a rare disease? Published 2017. Accessed March 4, 2019. https://www.eurordis.org/content/what-rare-disease
- 2.EURORDIS . The Voice of Rare Disease Patients: Experiences and Expectations of Over 3,000 Patients on Rare Disease Patient Registries in Europe. European Organization for Rare Diseases;2013. [Google Scholar]
- 3.Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173. doi: 10.1038/s41431-019-0508-0 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 4.Uhlenbusch N, Löwe B, Depping MK. Perceived burden in dealing with different rare diseases: a qualitative focus group study. BMJ Open. 2019;9(12):e033353. doi: 10.1136/bmjopen-2019-033353 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 5.Helgeson VS, Zajdel M. Adjusting to chronic health conditions. Annu Rev Psychol. 2017;68:545-571. doi: 10.1146/annurev-psych-010416-044014 [DOI] [PubMed] [Google Scholar]
- 6.Van Damme S, Crombez G, Van Houdenhove B, Mariman A, Michielsen W. Well-being in patients with chronic fatigue syndrome: the role of acceptance. J Psychosom Res. 2006;61(5):595-599. doi: 10.1016/j.jpsychores.2006.04.015 [DOI] [PubMed] [Google Scholar]
- 7.Viane I, Crombez G, Eccleston C, et al. Acceptance of pain is an independent predictor of mental well-being in patients with chronic pain: empirical evidence and reappraisal. Pain. 2003;106(1-2):65-72. doi: 10.1016/S0304-3959(03)00291-4 [DOI] [PubMed] [Google Scholar]
- 8.Poppe C, Crombez G, Hanoulle I, Vogelaers D, Petrovic M. Improving quality of life in patients with chronic kidney disease: influence of acceptance and personality. Nephrol Dial Transplant. 2013;28(1):116-121. doi: 10.1093/ndt/gfs151 [DOI] [PubMed] [Google Scholar]
- 9.Uhlenbusch N, Löwe B, Härter M, Schramm C, Weiler-Normann C, Depping MK. Depression and anxiety in patients with different rare chronic diseases: a cross-sectional study. PLoS One. 2019;14(2):e0211343. doi: 10.1371/journal.pone.0211343 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 10.Barlow J, Wright C, Sheasby J, Turner A, Hainsworth J. Self-management approaches for people with chronic conditions: a review. Patient Educ Couns. 2002;48(2):177-187. doi: 10.1016/S0738-3991(02)00032-0 [DOI] [PubMed] [Google Scholar]
- 11.Lorig KR, Holman H. Self-management education: history, definition, outcomes, and mechanisms. Ann Behav Med. 2003;26(1):1-7. doi: 10.1207/S15324796ABM2601_01 [DOI] [PubMed] [Google Scholar]
- 12.Smalley KR, Aufegger L, Flott K, Mayer EK, Darzi A. Can self-management programmes change healthcare utilisation in COPD?: a systematic review and framework analysis. Patient Educ Couns. 2021;104(1):50-63. doi: 10.1016/j.pec.2020.08.015 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 13.Peytremann-Bridevaux I, Staeger P, Bridevaux PO, Ghali WA, Burnand B. Effectiveness of chronic obstructive pulmonary disease-management programs: systematic review and meta-analysis. Am J Med. 2008;121(5):433-443. doi: 10.1016/j.amjmed.2008.02.009 [DOI] [PubMed] [Google Scholar]
- 14.Werfalli M, Raubenheimer PJ, Engel M, et al. The effectiveness of peer and community health worker–led self-management support programs for improving diabetes health-related outcomes in adults in low- and-middle-income countries: a systematic review. Syst Rev. 2020;9(1):133. doi: 10.1186/s13643-020-01377-8 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 15.Pimouguet C, Le Goff M, Thiébaut R, Dartigues JF, Helmer C. Effectiveness of disease-management programs for improving diabetes care: a meta-analysis. CMAJ. 2011;183(2):E115-E127. doi: 10.1503/cmaj.091786 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 16.Bodenheimer T, Lorig K, Holman H, Grumbach K. Patient self-management of chronic disease in primary care. JAMA. 2002;288(19):2469-2475. doi: 10.1001/jama.288.19.2469 [DOI] [PubMed] [Google Scholar]
- 17.Depping MK, Uhlenbusch N, von Kodolitsch Y, Klose HFE, Mautner VF, Löwe B. Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study. Orphanet J Rare Dis. 2021;16(1):44. doi: 10.1186/s13023-020-01660-w [DOI] [PMC free article] [PubMed] [Google Scholar]
- 18.Sokol R, Fisher E. Peer support for the hardly reached: a systematic review. Am J Public Health. 2016;106(7):e1-e8. doi: 10.2105/AJPH.2016.303180 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 19.Hayes SC. Get Out of Your Mind and Into Your Life: The New Acceptance and Commitment Therapy. New Harbinger Publications; 2005. [Google Scholar]
- 20.Hayes SC, Luoma JB, Bond FW, Masuda A, Lillis J. Acceptance and commitment therapy: model, processes and outcomes. Behav Res Ther. 2006;44(1):1-25. doi: 10.1016/j.brat.2005.06.006 [DOI] [PubMed] [Google Scholar]
- 21.Graham CD, Gouick J, Krahé C, Gillanders D. A systematic review of the use of Acceptance and Commitment Therapy (ACT) in chronic disease and long-term conditions. Clin Psychol Rev. 2016;46:46-58. doi: 10.1016/j.cpr.2016.04.009 [DOI] [PubMed] [Google Scholar]
- 22.Evers AW, Kraaimaat FW, van Lankveld W, Jongen PJ, Jacobs JW, Bijlsma JW. Beyond unfavorable thinking: the Illness Cognition Questionnaire for chronic diseases. J Consult Clin Psychol. 2001;69(6):1026-1036. doi: 10.1037/0022-006X.69.6.1026 [DOI] [PubMed] [Google Scholar]
- 23.Lauwerier E, Crombez G, Van Damme S, Goubert L, Vogelaers D, Evers AWM. The construct validity of the Illness Cognition Questionnaire: the robustness of the three-factor structure across patients with chronic pain and chronic fatigue. Int J Behav Med. 2010;17(2):90-96. doi: 10.1007/s12529-009-9059-z [DOI] [PubMed] [Google Scholar]
- 24.Osborne RH, Elsworth GR, Whitfield K. The Health Education Impact Questionnaire (heiQ): an outcomes and evaluation measure for patient education and self-management interventions for people with chronic conditions. Patient Educ Couns. 2007;66(2):192-201. doi: 10.1016/j.pec.2006.12.002 [DOI] [PubMed] [Google Scholar]
- 25.Schuler M, Musekamp G, Faller H, et al. Assessment of proximal outcomes of self-management programs: translation and psychometric evaluation of a German version of the Health Education Impact Questionnaire (heiQ). Qual Life Res. 2013;22(6):1391-1403. doi: 10.1007/s11136-012-0268-6 [DOI] [PubMed] [Google Scholar]
- 26.Ware J Jr, Kosinski M, Keller SDA. A 12-Item Short-Form Health Survey: construction of scales and preliminary tests of reliability and validity. Med Care. 1996;34(3):220-233. doi: 10.1097/00005650-199603000-00003 [DOI] [PubMed] [Google Scholar]
- 27.Glattacker M, Bengel J, Jäckel WH. German version of the Illness Perception Questionnaire-Revised (IPQ-R): psychometric evaluation in patients with chronic somatic illness. Z Gesundheitspsychol. 2009;17(4):158-169. doi: 10.1026/0943-8149.17.4.158 [DOI] [Google Scholar]
- 28.Kroenke K, Spitzer RL. The PHQ-9: a new depression diagnostic and severity measure. Psychiatr Ann. 2002;32(9):509-515. doi: 10.3928/0048-5713-20020901-06 [DOI] [Google Scholar]
- 29.Löwe B, Gräfe K, Zipfel S, Witte S, Loerch B, Herzog W. Diagnosing ICD-10 depressive episodes: superior criterion validity of the Patient Health Questionnaire. Psychother Psychosom. 2004;73(6):386-390. doi: 10.1159/000080393 [DOI] [PubMed] [Google Scholar]
- 30.Spitzer RL, Kroenke K, Williams JBW, Löwe B. A brief measure for assessing generalized anxiety disorder: the GAD-7. Arch Intern Med. 2006;166(10):1092-1097. doi: 10.1001/archinte.166.10.1092 [DOI] [PubMed] [Google Scholar]
- 31.Löwe B, Decker O, Müller S, et al. Validation and standardization of the Generalized Anxiety Disorder Screener (GAD-7) in the general population. Med Care. 2008;46(3):266-274. doi: 10.1097/MLR.0b013e318160d093 [DOI] [PubMed] [Google Scholar]
- 32.Kroenke K, Spitzer RL, Williams JBW. The PHQ-15: validity of a new measure for evaluating the severity of somatic symptoms. Psychosom Med. 2002;64(2):258-266. doi: 10.1097/00006842-200203000-00008 [DOI] [PubMed] [Google Scholar]
- 33.Fydrich T, Sommer G, Tydecks S, Brähler E. Fragebogen zur sozialen unterstützung (F-SozU): Normierung der Kurzform (K-14). Z Medizinische Psychol. 2009;18(1):43-48. [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
eAppendix 1. Model Coefficients
eAppendix 2. Handling of Missing Data
eTable 1. Results of the Hierarchical Linear Model Showing the Estimated Mean Group Difference for Additional Secondary Outcomes
eTable 2. Model Coefficients of the Hierarchical Linear Model
eTable 3. Model Coefficients of the Hierarchical Linear Model for Secondary Outcomes
eTable 4. Model Coefficients of the Hierarchical Linear Model for Additional Secondary Outcomes
eFigure. Handling of Missing Data
eReferences.