TABLE 1.
Summary of large single or multicenter studies comparing survival and morbidities in SCID following HCT
| Study | Mazzolari et al. JACI, 2007 |
Neven et al. Blood, 2009 |
Railey et al. J Pediatrics, 2009 |
Pai et al. NEJM, 2014 |
|---|---|---|---|---|
| Number of Patients | 58 treated 40 in late analysis |
149 treated 90 in late analysis |
161 treated 111 in late analysis |
240 treated and analyzed |
| Date of HCT, Single vs Multicenter | 1991–2002 Single Center |
1972–2004 Single Center |
1982–2008 Single Center |
2000–2009 North American multicenter |
| Donor Sources (Survival by Source) | MRD 12 (90%) MMRD 33 (61%) MUD 10 (83%) UCB 0 (n/a) Other Related 3 (100%) |
MRD 22 (nr) MMRD 51 (nr) MUD 15 (nr) UCB 0 (nr) Other Related 15 (nr) |
MRD 16 (100%) MMRD 145 (75%) |
MRD 32 (97%) MMRD 138 (79% no conditioning; 66% w/conditioning) MUD 19 (74%) UCB 43 (58%) |
| Conditioning Use | None 13 IS 2 MAC* 43 |
None 46 IS 5 RIC 22 MAC 17 |
None 161 | None 120 IS 39 RIC 35 MAC 46 |
| Median Follow up (range in years) | 11y (5.6–16.3) |
14 y (2–34) |
8.7y (0.5–26) |
nr |
| Overall survival (% at x years) | 72.4% at 5 years | 63% at 2 years; 9% late-mortality (> 2y post- HCT) |
77% overall | 74% at 5 years |
| Infectious Complications | HPV 17.5% Bacterial PNA 7.5% Pneumocystis 2.5% |
HPV 25% Sinopulm 5.5% OI 3.3% PNA 2.2% Viral Encephalitis 1.1% |
Sinopulm 20% HPV 12% PNA 8% Otitis Media 5% |
nr |
| cGVHD | None | 11% | Skin 3.6% | 15% at 2y |
| Autoimmunity | 12.5% (AIHA, hypothyroidism, hyperthyroidism) |
AIHA 6.6% Fever/cytopenia 3.3% Myositis 2.2% Psoriasis/Alopecia/Vitelligo 1.1% CD8 Granulomas 1.1% |
AIHA 1.8% | nr |
| Neurocognitive Function | In school 100% School support 7.5% Severe neurologic dysfunction 10%: -ADA SCID w/hypotonia/cognitive impairment -Artemis SCID w/impairments secondary to post HCT encephalitis -JAK3 SCID w/impairments secondary to pre-HCT anoxic brain damage associated with PNA -RAG Omenn SCID w/paraplegia |
>10y/o and normal 93% Psychotherapy 3.3% Developmental Delay/Seizure 1.1% ADHA 1.1% Schizophrenia 1.1% |
School Support 3% ADHD 21% CP 2% Seizure Disorder 2% 66% (10/15) College aged & attend college |
nr |
| Growth | Weight <3rd %tile 17.5% Height <3rd %tile 12.5% |
Growth Failure 17.7% | Growth Failure 12% | nr |
| Other Medical Issues | IVIG/Antibiotic PPX/both 15% Dental Issues 7.5% |
IVIG 21% Diarrhea/Poor oral feeding 20% All patients >15y/o completed puberty –2 patients have children following unconditioned HCT –1 patient achieved pregnancy post RIC |
IVIG 58% Antibiotic PPX 27% Chronic Diarrhea 14% Poor oral feeding 5% Rashes 25% Asthma 14% |
nr |
nr= not reported, IS= Immunosuppression, AIHA=Auto Immune Hemolytic Anemia, PNA= Pneumonia, OI= Opportunistic Infection, PPX=prophylaxis, CP= Cerebral Palsy
*
MAC with Busulfan/Cytoxan