NCT01033552

Brief 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.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
32

participants targeted

Target at P50-P75 for phase_1

Timeline
Completed

Started Jan 2010

Longer than P75 for phase_1

Geographic Reach
1 country

1 active site

Status
completed

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

First Submitted

Initial submission to the registry

December 14, 2009

Completed
2 days until next milestone

First Posted

Study publicly available on registry

December 16, 2009

Completed
16 days until next milestone

Study Start

First participant enrolled

January 1, 2010

Completed
11.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 12, 2021

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 12, 2021

Completed
2.6 years until next milestone

Results Posted

Study results publicly available

April 3, 2024

Completed
Last Updated

April 3, 2024

Status Verified

March 1, 2024

Enrollment Period

11.6 years

First QC Date

December 14, 2009

Results QC Date

December 5, 2023

Last Update Submit

March 6, 2024

Conditions

Outcome Measures

Primary Outcomes (1)

  • Percentage of Participants With Event-free Survival

    Event-free survival rate, with an event defined as death or failure to have a demonstrable increase in collagen, laminin, intergrin, keratin or plakin deposition. Assessed at follow up appointments through questionnaire and patient samples.

    1 year and 2 Years Post-transplant

Secondary Outcomes (6)

  • Percentage of Participants Transplant-related Mortality (TRM)

    180 Days Post Transplant

  • Average Biochemical Improvement

    1 Year Post-Transplant

  • Measure Patients Quality of Life Using a Questionnaire

    Pretreatment and 1 year

  • Durability of HSC Donor Engraftment in the Skin

    100 Days

  • Probability of Survival

    1 Year

  • +1 more secondary outcomes

Study Arms (4)

RDEB Mac

EXPERIMENTAL

Recessive Dystrophic EB (RDEB) - Myeloablative conditioning (MAC) Participants receive Myeloablative Busulfan (targeting AUC 1000 umol/min), Fludarabine 75 mg/m2, and Cyclophosphamide 200 mg/kg

Drug: CyclophosphamideDrug: FludarabineDrug: Myeloablative BusulfanProcedure: Mesenchymal stem cell transplantationProcedure: Bone marrow or umbilical cord blood (UCG) stem cell transplantation

RDEB RIC

EXPERIMENTAL

Recessive Dystrophic EB (RDEB) - Reduced Intensity Condition Participants received Fludarabine 500 mg/m2, Cyclosphosphamide 50 mg/kg, equine Anti-thymocyte globulin 90 mg/kg, and low dose total body irradiation (either 200 or 300 cGy)

Drug: CyclophosphamideDrug: FludarabineDrug: Anti-thymocyte globulinProcedure: Mesenchymal stem cell transplantationRadiation: Total body irradiationProcedure: Bone marrow or umbilical cord blood (UCG) stem cell transplantation

JEB MAC

EXPERIMENTAL

Junctional EB (JEB) - Myeloablative conditioning (MAC) Participants receive Myeloablative Busulfan (targeting AUC 1000 umol/min), Fludarabine 75 mg/m2, and Cyclophosphamide 200 mg/kg

Drug: CyclophosphamideDrug: FludarabineDrug: Myeloablative BusulfanProcedure: Mesenchymal stem cell transplantationProcedure: Bone marrow or umbilical cord blood (UCG) stem cell transplantation

JEB RIC

EXPERIMENTAL

Junctional EB (JEB) - Reduced Intensity Condition Participants received Fludarabine 500 mg/m2, Cyclosphosphamide 50 mg/kg, equine Anti-thymocyte globulin 90 mg/kg, and low dose total body irradiation (either 200 or 300 cGy)

Drug: CyclophosphamideDrug: FludarabineDrug: Anti-thymocyte globulinProcedure: Mesenchymal stem cell transplantationRadiation: Total body irradiationProcedure: Bone marrow or umbilical cord blood (UCG) stem cell transplantation

Interventions

Cyclophosphamide 50 mg/kg/day IV over 2 hours x 1 day, total dose 50 mg/kg will be administered on Day -6.

Also known as: Cytoxan
JEB MACJEB RICRDEB MacRDEB RIC

40 mg/m\^2/day intravenously on Days -6, -5, -4, -3 and -2.

Also known as: Fludara
JEB MACJEB RICRDEB MacRDEB RIC

30 mg/kg on Days -4, -3 and -2.

Also known as: ATG
JEB RICRDEB RIC

Targeting AUC 1000 umol/min

JEB MACRDEB Mac

infused via intravenous drip on Day 0

Also known as: MSCT
JEB MACJEB RICRDEB MacRDEB RIC

300 cGY on Day -1 administered in a single fraction at a dose rate of 10-19 cGy/minute prescribed to the midplane of the patient at the level of the umbilicus.

JEB RICRDEB RIC

Bone marrow or UCB products will be infused as soon as the product arrives and within 30 minutes. The product is infused via IV drip.

Also known as: UCBSCT
JEB MACJEB RICRDEB MacRDEB RIC

Eligibility Criteria

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

You may qualify if:

  • 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
  • /8 HLA matched donor at HLA-A, B, C, DRB1
  • Unrelated Donor
  • Marrow
  • HLA-A, B, C, DRB1 phenotypic identical donor
  • +6 more criteria

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Minnesota Masonic Cancer Center and Medical Center

Minneapolis, Minnesota, 55455, United States

Location

MeSH Terms

Conditions

Epidermolysis Bullosa

Interventions

Cyclophosphamidefludarabinefludarabine phosphateAntilymphocyte SerumMesenchymal Stem Cell TransplantationWhole-Body IrradiationStem Cell Transplantation

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Phosphoramide MustardsNitrogen Mustard CompoundsMustard CompoundsHydrocarbons, HalogenatedHydrocarbonsOrganic ChemicalsPhosphoramidesOrganophosphorus CompoundsImmune SeraAntibodiesImmunoglobulinsImmunoproteinsBlood ProteinsProteinsAmino Acids, Peptides, and ProteinsSerum GlobulinsGlobulinsBiological ProductsComplex MixturesCell TransplantationCell- and Tissue-Based TherapyBiological TherapyTherapeuticsTransplantationSurgical Procedures, OperativeRadiotherapyInvestigative Techniques

Results Point of Contact

Title
Dr. Jakub Tolar
Organization
University of Minnesota, Masonic Cancer Center

Study Officials

  • Jakub Tolar, MD, PhD

    Masonic Cancer Center, University of Minnesota

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
Yes

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
TREATMENT
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 14, 2009

First Posted

December 16, 2009

Study Start

January 1, 2010

Primary Completion

August 12, 2021

Study Completion

August 12, 2021

Last Updated

April 3, 2024

Results First Posted

April 3, 2024

Record last verified: 2024-03

Locations