butterfly child disease congenital bullous disease
Conditions
Interventions
Reduced toxicity chemotherapy conditioning followed by cord blood
transplantation with co-infusion of mesenchymal stromal cells for severe
generalized recessive dystrophic EB
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: (1) Diagnosed genetically & molecularly Epidermolysis Bullosa type recessive dystrofische severe generalized 2) having a single matching (* 5/6) umbilical CB unit available with sufficient cell count total NC count > 3 * E7/kg for the 8-10/10 matched units and >5*10e7/kg for the 6-7/10 matched units (3)Lansky,Karnofsky >40 (4)Age
Exclusion criteria
Exclusion criteria: (1) Creatinine clearance
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Safety: Transplantation related mortality (TRM). Efficacy/Biology: Investigation of phenotype status post-transplantation by clinical assessment of chronic wound healing, blister provocation testing, and photographic documentation. We aim to use diagnostic laboratory techniques in order to assess presence of missing proteins at the dermal-epidermal junction after transplantation. | — |
Secondary
| Measure | Time frame |
|---|---|
| * Disease specific outcomes: Clinical blister assessment: Suction test (Electronic Diversities. U.S.A) & Rub test (Kiritsi et al, personal communication) * Acute GVHD ( Grade II-IV: Gluckberg Criteria) * Engraftment: Neutrophils > 500K/uL for 3 consecutive days and Platelet (day 180 > 50 K) engraftment. * Loss of CB chimerism (6 mths follow up). Event defined as: death, graft-failure ( | — |
Countries
Netherlands
Outcome results
None listed