MyGauch^TM: a patient-centered digital health app for Gaucher disease

Abstract

Background

Gaucher disease (GD) is a rare genetic disorder caused by variants in the GBA1 gene, leading to a deficiency of β-glucocerebrosidase. This enzyme deficiency results in glucocerebroside accumulation in macrophages, forming “Gaucher” cells and causing symptoms such as hepatosplenomegaly, anemia, thrombocytopenia, and severe bone issues like osteonecrosis. While enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) have improved the management of non-neuronopathic GD, type 1 Gaucher disease (GD1), patients still face significant challenges. Digital health technologies offer potential solutions by enabling continuous patient monitoring, treatment adherence, and patient-reported outcome measures. The aim of this study was to evaluate the use of a GD-specific app in adults with GD1.

Methods

With input from GD experts and patient groups, the INTEGRA^TM platform was customized to meet the needs of patients with GD, resulting in the development of the MyGauch^TM v1.0 app. This app, integrated with the INTEGRA^TM platform, facilitated patient care through the capture of genetic, clinical, laboratory, and biomarker data and secure data transmission. The app included components for tracking pain, fatigue, physical activity, nutrition, and medication adherence. It featured a structured GD-specific patient-reported outcome measurements (PROMs) questionnaire assessing disease burden and treatment satisfaction. Additional tools included medication reminders, communication with the Gaucher clinic, access to lab results, and educational resources. All components were integrated into a centralized dashboard. Adults (≥18 years) with GD1, access to a mobile phone, and receiving ERT or SRT at enrollment were eligible for the study. Improvement in satisfaction with GD treatment was assessed using a question on treatment satisfaction from the electronic PROMs questionnaire.

Results

The study enrolled 90 adults with GD1 who received ERT or SRT and had access to the necessary technology. The improvement in satisfaction with the medical management of the GD with the use of MyGauch^TM was modest and not associated with demographic, disease, or treatment-related factors. The high non-participation rate, limited use of the app’s features, and lack of personalized feedback on physical activity and nutrition were noted as limitations.

Conclusions

Although the development of MyGauch^TM v1.0 represents a novel approach, low user engagement highlights the need for a newer app with improved features and patient education that would enhance patient’s health. Future research should prioritize understanding and overcoming obstacles to successfully adopting digital tools in rare disease management and creating more comprehensive self-management solutions tailored to patient behaviors and needs.

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Key findings

• The digital health platform MyGauchTM v1.0, customized for Gaucher disease (GD), was introduced to 90 adults with type 1 GD (GD1). Participants reported high baseline satisfaction with their GD medical treatment. By using the mobile app, improvement in satisfaction was modest and not associated with demographics, disease severity, or treatment type. Engagement with app features, such as adherence tracking, nutrition, and physical activity tools, was notably low.

What is known, and what is new?

• The health of individuals with GD1 remains suboptimal due to the disease’s overall impact.

• Effective GD management relies on lifelong therapies, multidisciplinary care, and patient-reported outcome measures. Digital health solutions have shown potential in managing chronic diseases but continue to face challenges with usability, engagement, and sustained adoption.

• The study highlights the potential of a customized digital platform for rare disease management while exposing barriers to adoption. Despite app customization, patient engagement was limited, emphasizing the need for improved usability, feedback mechanisms, and intuitive design.

What is the implication, and what should change now?

• Enhance usability by simplifying login, reducing disconnections, and improving user interface clarity.

• Boost patient engagement by providing feedback on nutrition/activity data.

• Provide educational resources and personalized guidance to maximize the benefits of app features and help patients integrate the tools effectively into their daily management routines.

• Engaging caregivers to recognize the value of incorporating digital tools into their repertoire of patient management strategies.

Introduction

Gaucher disease (GD) is a rare autosomal recessive genetic disorder caused by variants in the GBA1 gene, leading to a deficiency in the enzyme β-glucocerebrosidase (1). This deficiency results in the accumulation of glucocerebroside within macrophages, forming “Gaucher” cells, which leads to symptoms such as hepatosplenomegaly, anemia, thrombocytopenia, and significant bone complications like osteonecrosis and bone crises. Without timely intervention, these skeletal issues can severely impact quality of life, highlighting the importance of early and effective therapy. The introduction of enzyme replacement therapy (ERT), followed by substrate reduction therapy (SRT), has significantly improved the management of adults with non-neuropathic, type 1 GD (GD1), offering effective treatment options; however, the disease burden remains a concern (2).

Digital transformation in healthcare aims to enhance health and well-being management by supporting patient participation and facilitating the shift towards more digitized, person-centered, and community-based care models (3). Digital biomarkers, collected through wearable devices like smartwatches and sensors, transform healthcare by enabling continuous patient monitoring outside clinical settings. This integration offers a comprehensive view of health, creating a unique digital biomarker “fingerprint” that enhances the diagnosis, monitoring, and treatment of various conditions (4).

Integrating digital technology for rare diseases like GD can be particularly valuable in several ways. First, patient-reported outcome measures (PROMs) are increasingly recognized as essential in research and clinical practice, particularly for monitoring the effectiveness of healthcare services and developing new emerging therapies for rare diseases, including gene therapy (5-7). Developing and validating a GD-specific PROM have underscored the importance of capturing patient experiences reliably and responsively (8-10). A digital Gaucher platform could be a valuable tool for collecting GD-specific PROMs, ensuring that patient-centered outcomes are integral to disease management. Second, managing patients with GD typically requires a multidisciplinary team with expertise in various clinical presentations and co-morbidities (11). Regular follow-up visits, typically annual or semi-annual, are recommended for clinical and laboratory disease monitoring, such as glucosylsphingosine (lyso-Gb1) (12). However, disease-related events can arise between these visits, some of which may require urgent attention. A digital platform for GD could facilitate continuous monitoring by enabling updates on medical events and allowing specialists to provide timely consultations to both the patient and their local physician. Finally, adherence to life-long therapies such as ERT and SRT is crucial for achieving normalization in patients with GD (13). Monitoring adherence can be challenging, with clinic follow-up typically limited to a few times yearly. A digital Gaucher platform could offer tools for self-management and improve adherence to therapy by providing ongoing support.

In 2022, we developed a digital platform for GD called MyGauch^TM, built upon the INTEGRA^TM framework (14). This study aims to evaluate the use of MyGauch^TM in adults with GD1. Our hypothesis was that integrating the mobile app into patient care would enhance their satisfaction with medical management. We present this article in accordance with the TREND reporting checklist (available at https://mhealth.amegroups.com/article/view/10.21037/mhealth-24-100/rc).

Methods

Customization of the INTEGRA

The INTEGRA^TM platform comprises five core modules: communication, connect, brain, mobile, and research. Data security within the platform adheres strictly to European Union guidelines and complies with the Health Insurance Portability and Accountability Act (HIPAA). The platform employs Secure Sockets Layer (SSL) technology, providing 256-bit encryption for all data transfers between servers, ensuring the secure transmission of sensitive information. To enhance security, a firewall physically segregates the server containing personal details from those housing medical data. The connection between personal data and medical information is established solely through a virtual code application, thereby minimizing the risk of exposure to sensitive medical data. The entire personal system is fully encrypted, and no identifying patient features were entered into the platform. The INTEGRA^TM platform has been previously validated in patients with heart failure (15).

Insights from GD specialists and patient groups, including the International Gaucher Alliance (IGA) and the Israeli Gaucher Association, guided the customization of the platform and its components to address the specific needs of patients with GD. Based on this input, the MyGauch^TM v1.0 application was developed (Figure 1). The MyGauch^TM v1.0 mobile application included key components designed to support self-monitoring and management of GD1. The Pain Monitoring component allowed patients to select specific anatomical regions using a visual body diagram and rate pain severity on a scale from 1 to 10, enabling both localization and longitudinal tracking of bone pain. Fatigue Monitoring component prompted users to indicate whether they feel fatigued and, if affirmative, to quantify its intensity using the same 10-point scale. The PROM component incorporated a structured, two parts GD-specific questionnaire (9). The GD-PROM includes 12 items that assess limitations in work and education, social and intimate relationships, emotional burden, and concerns about long-term complications such as bone disease, cancer, Parkinson disease, financial strain, and access to expert care. Responses to the first 9 items are recorded on a 6-point Likert scale ranging from “None of the time” to “All of the time”, with an additional option of “Not applicable/prefer not to say”. The remaining 3 items use a 5-point Likert scale ranging from “Strongly agree” to “Strongly disagree”. In addition, the questionnaire includes 9 single-item questions rated on a 0–10 numerical scale, assessing recent experiences of dependency, abdominal swelling, fatigue, physical weakness, bone pain, depression, worry, outlook on the future, and satisfaction with medical treatment. The Wellness component enables users to log time spent on physical activities (e.g., walking, yoga, or aerobic exercise), differentiated by intensity, to monitor lifestyle behaviors potentially impacting health outcomes. Nutrition Tracking component collects information on food group consumption using frequency-based sliders and includes an optional input field for dietary supplement use. The Compliance Monitoring component recorded prescribed medications, dosage, and frequency, and provides automated reminders to support adherence to GD-specific therapies. Additional features included a secure messaging tool for direct communication with the Gaucher clinic, access to laboratory test results, and a curated list of educational articles related to GD. All components were integrated within a centralized dashboard, enabling seamless navigation and promoting sustained user engagement. The integration of MyGauch^TM with the GD-customized INTEGRA^TM platform enabled the capture of data entered to perform the analysis.

Figure 1.

MyGauch^TM v1.0 mobile application interface. PRO, patient-reported outcome.

Patient enrollment

Consecutive adults (>18 years) with GD1 who are followed at SZMC Gaucher Unit who had access to a mobile phone and were receiving ERT or SRT at enrollment qualified for inclusion in the study. For this pilot study, patients with inadequate Hebrew or English language skills were not eligible for inclusion.

Participants who met the eligibility criteria were invited to participate in the study during their half-yearly or yearly appointment at the Gaucher Unit. Upon informed consent, participants were instructed to download the MyGauch^TM mobile app from the App Store or Google Play Store. Afterward, they were given a user code and oral instructions on navigating the digital platform. Two-level identification was used to log in via user code and mobile phone number. Follow-up appointments were arranged for 6 months and 1 year later. Participation in this study did not alter the patients’ standard care regimen. Issues arising from the application’s alert dashboard were addressed according to the Gaucher Unit standard of care. Medication-related adverse events, if they occurred, were to be documented and reported to pharmacovigilance as necessary. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The Institutional Review Board of Shaare Zedek Medical Center approved the study design (No. 0380-20-SZMC), and the study was registered on clinicalTrials.gov (NCT04997772). All study participants signed informed consent.

Study endpoints

The primary endpoint was satisfaction from Gaucher treatment at baseline compared to the end of the study (EOS) [Gaucher disease-patient-reported outcome measurements (GD-PROMs): Part 2, question 9 (Appendix 1)]. Secondary endpoints included other GD-PROMs questions at baseline compared to the EOS, treatment adherence based on participant reports in the app, and achievement of treatment goals based on Gaucher consensus paper (16).

Sample size

The primary endpoint determined the sample size. Our previous work found that the mean ± standard deviation (SD) answer to question 9 was 2.27±2.52 (9). It was calculated that 102 participants would allow for the detection of an average difference of 1, with a significance level of 0.05 and a power of 80%. To compensate for 10% of potential missing data due to dropouts or invalid questionnaires, we aimed to enroll 115 patients. The study began on February 15, 2022, with the enrollment period extending over 1 year. By the end of this period, 169 patients were approached. However, the consent rate, which remained consistent over time, was only 50%. Consequently, the decision was made to conclude enrollment on February 15, 2023, having successfully enrolled 90 patients. A sample size of 90 participants was determined to be sufficient to detect a mean difference of 1.1 between the EOS and baseline, achieving a significance level of 0.05 and a power of 80%.

Statistical analysis

We used median (range) for continuous variables to report summary descriptive statistics. For nominal data, we report the absolute and relative frequencies. A paired analysis test was used to study statistically significant differences in continuous or ordinal dependent variables between the baseline and EOS. A Chi-squared test was used to compare categorical data.

A generalized linear model (GLM) was used to assess the association between the change in satisfaction scores (difference between baseline and EOS) and laboratory values and potential predictors, including age, sex, GD severity (based on variant analysis, i.e., N370S homozygous vs. heterozygous, and biomarkers, i.e., lyso-Gb1 levels), type of treatment (ERT or SRT) and time on treatment. The GLM was used since the change distribution did not meet the normality assumption required for linear regression. Analysis was done using R programming.

Results

Of the 173 patients invited to participate in the study, 90 patients (52%) consented to join the study and use the MyGauch^TM v1.0 app (Table 1). The primary reasons for non-participation included patient refusal and insufficient access to the required technology (Table 2).

Table 1. Study cohort characteristics.

Characteristics	Value (N=90)
Age (years)	47.5 (18–79)
Male	49 [54]
Genotype, severe	38 [42]
Enzyme replacement therapy	83 [92]
Time on treatment (years)	16.2 (0–34)
Platelet count (×109/L)
Baseline	185 (21–512)
End of study	195 (66–808)
Hemoglobin (g/dL)
Baseline	13.7 (8.9–17.9)
End of study	13.8 (8.8–17.4)
Lyso-Gb1 (ng/mL)
Baseline	60 (10.5–699)
End of study	60 (3.9–377)

Data are expressed as median (range) or n [%]. dL, deciliter; g, gram; lyso-Gb1, glucosylsphingosine; mL, milliliter; ng, nanogram.

Table 2. Reasons for non-participation in the study.

Reason	Number
Not interested	35
No specific reason	30
Doesn’t want to be reminded about Gaucher	3
Too many applications	1
Concern from data protection	1
Barriers	48
No access to smart phone/computer	26
Language (Russian/Arabic)	10
Older age (not good with technologies)	11
Parkinson disease (cannot use the phone)	1

The study cohort represented a diverse adult population with mild and severe genotypes. There was a notable variability in disease status among participants, as shown by the wide range of platelet counts, hemoglobin and lyso-Gb1 levels, and time on therapy (Table 1). Most patients were on ERT twice monthly. Seven patients were receiving daily oral SRT.

The primary endpoint, question 9 from the PROM questionnaire, received 82 responses at the study’s entry and 62 at its conclusion. A lower score indicates higher satisfaction. The mean (95% confidence interval for mean) at baseline was 2.2 (1.6–2.8), and at EOS, it was 1.5 (1.2–1.8). Although the score remained consistent across both time points, demonstrating excellent satisfaction with the GD treatment of all participants, improvement in satisfaction between baseline and EOS was found (Figure 2). The change in satisfaction between baseline and EOS was not associated with age, sex, GD severity, type of treatment, or time on treatment. As expected for a cohort with a median time on treatment of 15 years, no significant change was seen in laboratory parameters between baseline and EOS (Table 1).

Figure 2.

Comparison of patient satisfaction scores with Gaucher medical management at baseline (first) and the end of the study (last). The box plots indicate the median, interquartile range, and range of scores, with outliers depicted as individual points.

Only two participants used the adherence function, one completing it once and the other three times. Nine participants completed the fatigue scale, with six reporting fatigue scores of 6 or higher. Six participants completed the pain scale, with three reporting pain scores of 6 or higher. Twenty-seven participants completed the nutrition questionnaire at least once, and 28 participants completed the physical activity questionnaire at least once, and some completed both. Additionally, only two participants contacted the Gaucher unit through the app.

Discussion

This pilot study reports using a novel digital health platform, MyGauch^TM v1.0, in adult patients with GD1. Participants reported excellent satisfaction levels with their GD medical treatment. However, the anticipated improvement in satisfaction with the use of MyGauch^TM was only modest and not related to demographic, disease, or treatment-related factors.

The impact of MyGauch^TM on overall satisfaction might be limited by factors beyond the app’s functionalities, possibly due to the already high baseline satisfaction in a well-managed cohort with a median of 15 years on treatment. A similar level of satisfaction from medical treatment was found in the previous study from our center, which included 124 treated patients (9). The lack of significant differences in laboratory values between baseline and EOS also supports the notion that the cohort in our study was well-managed and satisfied.

Patients with GD often face nutritional challenges, including a hypermetabolic state and peripheral insulin resistance (17). These metabolic disturbances can significantly affect the patient’s quality of life. In addition, patients with GD also have a risk for reduced bone density, bone infarctions, and other skeletal complications (18). To maintain bone health and prevent metabolic disturbances, a panel of GD experts has provided guidelines on the International Working Group for Gaucher Disease (IWGGD) website, recommending that patients with GD adopt a healthy lifestyle with a focus on regular exercise, a balanced diet, and adequate calcium and vitamin D intake (19). The panel considered good practice to include data on the patient’s diet, exercise, and lifestyle during each GD clinic visit. With this in mind, we designed MyGauch^TM v1.0 to allow participants to follow their nutrition and physical activity. However, only a third of the participants completed the questionnaire related to these aspects. The low engagement rate may be attributed to the app’s failure to provide users with feedback on whether their physical activity or nutrition levels meet the recommended guidelines.

Smartphone health apps are increasingly used to assist in chronic diseases with similar functionalities, such as the use of reminders and medical monitoring. In a systemic review of apps used in diabetes, hypertension, cardiovascular diseases, asthma, neoplasms, and chronic conditions in general, apps were mainly effective in reducing body weight, promoting healthy eating, and adhering to the regular practice of physical exercises (20). A review of studies on apps for 11 chronic diseases revealed consistent clinical benefits only for diabetes apps, with no significant evidence of benefit for other conditions like chronic obstructive lung disease, cognitive impairment, or chronic kidney disease (21). Even in cases where benefits were observed, they were often clinically marginal and did not substantially impact serious health outcomes like mortality or hospitalization. The authors identified 12 design features that can enhance app usability, including the availability of versions for different disease severities, ease of navigation, intuitive interfaces, engaging and relatable content, practical self-management tips, real-time feedback, and access to expert advice and social support, along with universal self-management tasks, easy data entry and analysis, compatibility across devices, and seamless data sharing (21).

The limited use of the MyGauch^TM app’s features could reflect several underlying issues. For instance, patients may prefer traditional in-person consultations, or there could be barriers related to technology use, such as comfort with digital platforms, perceived value of the app, or ease of use. The findings also underscore the importance of patient-centered design in digital health tools. While the platform was customized based on insights from GD specialists and patient groups, further refinement is needed to enhance usability and engagement. Future iterations of the platform should consider incorporating more intuitive interfaces, better patient education on the benefits of digital tools, and perhaps incentives for regular use.

If we were to develop version 2.0 of the app, several additional improvements would be necessary based on user feedback to enhance both the user experience and the utility of the app. Users have reported difficulties with the login process, noting that the username and password setup is not user-friendly. Additionally, many have experienced frequent disconnections, requiring them to log in repeatedly. Another issue is that the language can only be switched between English and Hebrew before logging in, but not afterward. The questionnaire was also found to be confusing, particularly regarding the steps needed to complete it properly. Furthermore, users noted that the app currently only displays blood test results without providing a summary of the entire visit. While many users expressed dissatisfaction with the app’s lack of integration with their healthcare provider’s systems, such as their health maintenance organization or hospital records, addressing this may not be feasible due to the need to maintain the high level of patient data security that MyGauch^TM currently upholds.

The main advantage of MyGauch^TM is that it is part of the INTEGRA^TM platform, so all patient entries in the app are stored anonymously, enabling long-term research. This means that when a new version of MyGauch^TM is developed, all past data entries will be available for comparison.

Our study had several limitations. First, there was a high non-participation rate due to both unwillingness and various barriers, potentially affecting the generalizability of our findings. Since non-participants did not consent to the study, we were unable to compare their underlying characteristics with those of the participants. Additionally, despite efforts to recruit an adequate sample, the final participant count was lower than anticipated, limiting the study’s power to detect smaller, clinically meaningful differences. The relatively short follow-up period of 1 year may not have been sufficient to capture the long-term effects of the MyGauch^TM platform, particularly in a chronic condition where management changes may take longer to manifest. The cohort represented a relatively stable population with long-term disease management, which may limit the generalizability of these findings to newly diagnosed patients or those with more severe disease phenotypes. While changes in GD-PROMs at baseline compared to the EOS were an important secondary outcome, unfortunately, follow-up completion rates were low, and we were unable to include these findings in the current analysis. Finally, the absence of a control group that did not use the MyGauch^TM platform limits our ability to conclusively attribute any improvements in patient satisfaction or outcomes directly to the platform.

Conclusions

The introduction of MyGauch^TM v1.0, which was tailored specifically to the needs of patients with GD, represents a novel approach to addressing these challenges through digital means. However, the low engagement suggests that further development and patient education are necessary to fully realize the potential of digital health interventions in this context. Future research should focus on identifying and overcoming barriers to the effective use of digital tools in managing rare diseases like GD and developing comprehensive tools for self-management that will align with patient needs or behaviors and for capturing PROMs that could help in the development of new therapeutic methods.

Supplementary

The article’s supplementary files as

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments, and approved by the Institutional Review Board of Shaare Zedek Medical Center (No. 0380-20-SZMC). All study participants signed informed consent.

Data Sharing Statement

Available at https://mhealth.amegroups.com/article/view/10.21037/mhealth-24-100/dss

mh-11-24-100-dss.pdf ^{(66.3KB, pdf)}

DOI: 10.21037/mhealth-24-100