Biochemical Correction of Severe EB by Allo HSCT and "Off-the-shelf" MSCs

NCT ID: NCT01033552

Last Updated: 2024-04-03

Study Results

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE1/PHASE2

Total Enrollment

32 participants

Study Classification

INTERVENTIONAL

Study Start Date

2010-01-31

Study Completion Date

2021-08-12

Brief Summary

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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.

Detailed Description

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The primary objective of this study is to estimate the event-free survival rate by 1 year post-transplant with an event defined as a death or failure to have a demonstrable increase in collagen, laminin, integrin, keratin or plakin deposition by 1 year post-transplant or other biochemical, structural or physical measure of improvement.

The secondary objectives of this study are to i) determine the incidence of transplant-related mortality (TRM) at 180 days; ii) describe the pattern of biochemical improvement as measured by an increase in protein expression (collagen, laminin, integrin, keratin or plakin) and related structural and physical changes; iii) describe health quality of life at day 365 and 730 as compared to pretreatment results; iv) describe the pattern and durability of HSC and third party MSC engraftment in the skin; v) determine the probability of survival at 1 year.

Patients with severe epidermolysis bullosa will be screened to meet the eligibility requirements, related or unrelated donor marrow or UCB will be infused, and subjects will be followed for a minimum of 5 years after stem cell transplant. A target accrual of 75 subjects over 5 years will be recruited to the study.

Conditions

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Epidermolysis Bullosa

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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RDEB Mac

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

Group Type EXPERIMENTAL

Cyclophosphamide

Intervention Type DRUG

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

Fludarabine

Intervention Type DRUG

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

Myeloablative Busulfan

Intervention Type DRUG

Targeting AUC 1000 umol/min

Mesenchymal stem cell transplantation

Intervention Type PROCEDURE

infused via intravenous drip on Day 0

Bone marrow or umbilical cord blood (UCG) stem cell transplantation

Intervention Type PROCEDURE

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.

RDEB RIC

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)

Group Type EXPERIMENTAL

Cyclophosphamide

Intervention Type DRUG

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

Fludarabine

Intervention Type DRUG

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

Anti-thymocyte globulin

Intervention Type DRUG

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

Mesenchymal stem cell transplantation

Intervention Type PROCEDURE

infused via intravenous drip on Day 0

Total body irradiation

Intervention Type RADIATION

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.

Bone marrow or umbilical cord blood (UCG) stem cell transplantation

Intervention Type PROCEDURE

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.

JEB MAC

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

Group Type EXPERIMENTAL

Cyclophosphamide

Intervention Type DRUG

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

Fludarabine

Intervention Type DRUG

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

Myeloablative Busulfan

Intervention Type DRUG

Targeting AUC 1000 umol/min

Mesenchymal stem cell transplantation

Intervention Type PROCEDURE

infused via intravenous drip on Day 0

Bone marrow or umbilical cord blood (UCG) stem cell transplantation

Intervention Type PROCEDURE

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.

JEB RIC

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)

Group Type EXPERIMENTAL

Cyclophosphamide

Intervention Type DRUG

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

Fludarabine

Intervention Type DRUG

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

Anti-thymocyte globulin

Intervention Type DRUG

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

Mesenchymal stem cell transplantation

Intervention Type PROCEDURE

infused via intravenous drip on Day 0

Total body irradiation

Intervention Type RADIATION

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.

Bone marrow or umbilical cord blood (UCG) stem cell transplantation

Intervention Type PROCEDURE

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.

Interventions

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Cyclophosphamide

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

Intervention Type DRUG

Fludarabine

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

Intervention Type DRUG

Anti-thymocyte globulin

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

Intervention Type DRUG

Myeloablative Busulfan

Targeting AUC 1000 umol/min

Intervention Type DRUG

Mesenchymal stem cell transplantation

infused via intravenous drip on Day 0

Intervention Type PROCEDURE

Total body irradiation

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.

Intervention Type RADIATION

Bone marrow or umbilical cord blood (UCG) stem cell transplantation

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.

Intervention Type PROCEDURE

Other Intervention Names

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Cytoxan Fludara ATG MSCT UCBSCT

Eligibility Criteria

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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

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.
Maximum Eligible Age

25 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Masonic Cancer Center, University of Minnesota

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jakub Tolar, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Masonic Cancer Center, University of Minnesota

Locations

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University of Minnesota Masonic Cancer Center and Medical Center

Minneapolis, Minnesota, United States

Site Status

Countries

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United States

Provided Documents

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Document Type: Study Protocol and Statistical Analysis Plan

View Document

Document Type: Informed Consent Form

View Document

Other Identifiers

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0911M74035

Identifier Type: OTHER

Identifier Source: secondary_id

MT2009-09

Identifier Type: -

Identifier Source: org_study_id

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