Phase 2
Completed N=32
Biochemical Correction of Severe EB by Allo HSCT and "Off-the-shelf" MSCs
Epidermolysis Bullosa
Source: ClinicalTrials.gov NCT01033552 ↗
Enrolled (actual)
32
Serious AEs
100.0%
Results posted
Apr 2024
Primary outcomePrimary: Percentage of Participants With Event-free Survival — 67; 80; 50; 29 Percentage of participants
Summary
This is an open-label, single institution, phase II study in patients with epidermolysis bullosa (EB). The underlying hypothesis is that the infusion of bone marrow or umbilical cord blood from a healthy unaffected donor will correct the collagen, laminin, integrin, or plakin deficiency and reduce the skin fragility characteristic of severe forms of EB. A secondary hypothesis is that mesenchymal stem cells from a healthy donor will enhance the safety and efficacy of the allogeneic hematopoietic stem cell transplant as well as serve as a source of renewable cells for the treatment of focal areas of residual blistering.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Percentage of Participants With Event-free Survival |
67; 80; 50; 29; 44; 80 | — |
| SECONDARY Percentage of Participants Transplant-related Mortality (TRM) |
43; 19; 50; 86 | — |
| SECONDARY Average Biochemical Improvement |
29; 31; 0; 0 | — |
| SECONDARY Measure Patients Quality of Life Using a Questionnaire |
43; 17; 1; 37; 68 | — |
| SECONDARY Durability of HSC Donor Engraftment in the Skin |
11; 7; 0; 9 | — |
| SECONDARY Probability of Survival |
71; 81; 50; 29 | — |
| SECONDARY Percentage of Participants Who Experienced Acute GVHD |
14; 19; 0; 29 | — |
Eligibility Criteria
Inclusion Criteria
- Diagnosis of severe form of epidermolysis bullosa (EB) characterized by collagen, laminin, integrin, keratin or plakin deficiency. Assessment criteria for severe EB:
- Documented collagen, laminin, integrin, keratin or plakin deficiency (by immunofluorescence staining with protein specific antibodies or Western blotting and by mutation analysis)
- Adequate Organ Function Criteria
- Renal: glomerular filtration rate within normal range for age
- Hepatic: bilirubin, aspartate aminotransferase/alanine aminotransferase (AST/ALT), Alkaline phosphatase (ALP) < 5 x upper limit of normal
- Pulmonary: adequate pulmonary function in the opinion of the enrolling investigator
- Cardiac: left ventricular ejection fraction ≥ 45%, normal electrocardiogram (EKG) or approved by Cardiology for transplant.
- Available Healthy HSC Donor (order of preference)
- Related Donor (marrow or UCB)
- HLA-A, B, C, DRB1 genotypic identical (sibling) donor
- HLA-A, B, C, DRB1 phenotypic identical donor
- 7/8 HLA matched donor at HLA-A, B, C, DRB1
- Unrelated Donor
- Marrow
- HLA-A, B, C, DRB1 phenotypic identical donor
- 7/8 HLA matched donor at HLA-A, B, C, DRB1
- UCB
- HLA-A, B (antigen level) and DRB1 (allele level) matched donor
- 5/6 HLA matched donor at HLA-A, B, DRB1
- 4/6 HLA matched donor at HLA-A, B, DRB1
- Voluntary written consent
Absence of Exclusion Criteria:
- Active systemic infection at time of transplantation (including active infection with Aspergillus or other mold within 30 days).
- History of human immunodeficiency virus (HIV) infection
- Evidence of squamous cell carcinoma
- Donor has EB
- Pregnancy females of child-bearing age must have a documented negative pregnancy test and agree to use contraception as a condition for enrollment.
Data sourced from ClinicalTrials.gov (NCT01033552). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.