NCT00478244

Brief Summary

RATIONALE: In animal models, stem cells have been shown to home to the skin and repair the biochemical and structural abnormalities associated with recessive dystrophic epidermolysis bullosa (RDEB) (collagen 7 deficiency). PURPOSE: To determine the safety and effectiveness of stem cell infusion in the treatment of RDEB.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
7

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Apr 2007

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2007

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

May 23, 2007

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 24, 2007

Completed
4.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2011

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2011

Completed
1.5 years until next milestone

Results Posted

Study results publicly available

February 11, 2013

Completed
Last Updated

December 28, 2017

Status Verified

December 1, 2017

Enrollment Period

4.3 years

First QC Date

May 23, 2007

Results QC Date

July 17, 2012

Last Update Submit

December 3, 2017

Conditions

Keywords

epidermolysis bullosadystrophic epidermolysis bullosa

Outcome Measures

Primary Outcomes (1)

  • Number of Patients With Detectable Collagen Type VII

    Number of patients with epidermolysis bullosa who had collagen type VII. Type VII collagen defects cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder often accompanied by epidermal cancers.

    Day 100 Post Transplant

Secondary Outcomes (9)

  • Number of Patients With >70% Donor Chimerism

    Days 21, 100, 180, 365 and 730 Post Transplant

  • Number of Patients With Transplant-Related Mortality

    Day 180 Post Transplant

  • Number of Patients With Platelet Engraftment

    Day 180 Post Transplant

  • Number of Patients With Acute Graft-Versus-Host Disease (GVHD)

    Day 100 Post Transplant

  • Number of Patients With Chronic Graft-Versus-Host Disease (cGVHD)

    Day 365 Post Transplant

  • +4 more secondary outcomes

Study Arms (1)

Epidermolysis Bullosa (EB) Patients

EXPERIMENTAL

Epidermolysis bullosa patients treated per study regimen with chemotherapy and stem cell transplant.

Drug: busulfanDrug: cyclophosphamideDrug: fludarabine phosphateProcedure: hematopoietic bone marrow transplantation

Interventions

Day -9 through Day -6: 1.1 mg/kg if \< 12 kg IV every 6 hours; 0.8 mg/kg if \> 12 kg.

Also known as: Bulsulfex
Epidermolysis Bullosa (EB) Patients

Day -5 through Day -2: 50 mg/kg IV over 120 min.

Also known as: Cytoxan
Epidermolysis Bullosa (EB) Patients

Day -5 through Day -3: 25 mg/m2 IV over 60 min.

Also known as: Fludarabine, Fludara
Epidermolysis Bullosa (EB) Patients

allogeneic bone marrow, peripheral stem cell or umbilical cord blood transplantation

Also known as: Bone marrow transplant
Epidermolysis Bullosa (EB) Patients

Eligibility Criteria

AgeUp to 25 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Diagnosis of epidermolysis bullosa (EB)
  • Documented collagen type VII deficiency by:
  • Antigenic mapping (LH7.2 antibody)
  • Ultrastructure analysis of anchoring fibrils
  • DNA mutation analysis
  • Performance status: \>50% Lansky; \>50% Karnofsky
  • Adequate organ function
  • Renal: glomerular filtration rate \> 60ml/min/1.73m2 patients aged ≤ 10 years
  • Hepatic: bilirubin, aspartate aminotransferase/alanine aminotransferase (AST/ALT), Alkaline phosphatase (ALP) \< 5 x upper limit of normal 4.2.3 Pulmonary: oxygen saturation \>92% 4.2.4 Cardiac: left ventricular ejection fraction \> 45%.
  • Healthy related hematopoietic stem cell donor available and meeting 1 of the following criteria:
  • HLA-A, B, DRB1-identical sibling bone marrow and/or umbilical cord blood donor (first priority)
  • HLA-A, B, DRB1-matched or partially matched related donor (second priority)
  • Donor may be a carrier but must be unaffected by EB
  • /8 HLA A, B, C, DRB1 allele level matched unrelated marrow donor (third priority)
  • /8 HLA-A, B, C, DRB1 allele level matched unrelated marrow donor or 4/6 HLA-A, B (antigen level), DRB1 (allele level) matched unrelated cord blood donor (fourth priority)

You may not qualify if:

  • Active infection at time of transplantation (including active infection with Aspergillus or other mold within 30 days)
  • Squamous cell carcinoma of the skin
  • History of human immunodeficiency virus (HIV) infection
  • Prior transplantation with donor skin

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Masonic Cancer Center, University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Related Publications (1)

  • Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, Dolan M, Blazar BR, Tolar J. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med. 2010 Aug 12;363(7):629-39. doi: 10.1056/NEJMoa0910501.

MeSH Terms

Conditions

Epidermolysis BullosaEpidermolysis Bullosa Dystrophica

Interventions

BusulfanCyclophosphamidefludarabine phosphatefludarabineBone Marrow Transplantation

Condition Hierarchy (Ancestors)

Skin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornSkin DiseasesSkin and Connective Tissue DiseasesSkin Diseases, VesiculobullousCollagen DiseasesConnective Tissue Diseases

Intervention Hierarchy (Ancestors)

Butylene GlycolsGlycolsAlcoholsOrganic ChemicalsMesylatesAlkanesulfonatesAlkanesulfonic AcidsAlkanesHydrocarbons, AcyclicHydrocarbonsSulfonic AcidsSulfur AcidsSulfur CompoundsPhosphoramide MustardsNitrogen Mustard CompoundsMustard CompoundsHydrocarbons, HalogenatedPhosphoramidesOrganophosphorus CompoundsTissue TransplantationCell- and Tissue-Based TherapyBiological TherapyTherapeuticsTransplantationSurgical Procedures, Operative

Results Point of Contact

Title
John E. Wagner, M.D.
Organization
Masonic Cancer Center, University of Minnesota

Study Officials

  • John E. Wagner, MD

    Masonic Cancer Center, University of Minnesota

    STUDY CHAIR

Publication Agreements

PI is Sponsor Employee
Yes

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 23, 2007

First Posted

May 24, 2007

Study Start

April 1, 2007

Primary Completion

August 1, 2011

Study Completion

August 1, 2011

Last Updated

December 28, 2017

Results First Posted

February 11, 2013

Record last verified: 2017-12

Locations