Gene-Modified Skin Substitute for Dystrophic Epidermolysis Bullosa

Overseen By Lucie Germain, PhD

Age: Any Age

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: CHU de Quebec-Universite Laval

Must not be taking: Immunotherapy, Chemotherapy

Disqualifiers: Systemic infection, Squamous cell carcinoma, Allergy to bovine, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 2

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a new type of skin graft called Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) to assist individuals with Recessive Dystrophic Epidermolysis Bullosa (RDEB). RDEB causes painful skin wounds due to a missing protein that holds skin layers together. The trial seeks to determine if the graft, made from the patient's own skin cells and modified to produce the missing protein, is safe and effective in healing these wounds. Individuals with RDEB who have skin areas large enough for grafting and can tolerate anesthesia may be suitable candidates for this trial. As a Phase 1, Phase 2 trial, this research focuses on understanding the treatment's effects in people and measuring its effectiveness in an initial, smaller group, offering participants the chance to be among the first to benefit from this innovative approach.

Will I have to stop taking my current medications?

The trial requires that you stop taking certain medications before participating. If you've been on oral corticosteroids for more than a week, you need to stop them at least 2 weeks before the study. Also, you must not have had chemotherapy within 60 days or any gene therapy affecting collagen 7 in the last 6 months before the study.

What prior data suggests that this skin graft is safe for use in people with RDEB?

Research has shown that the GMEB-SASS skin graft is usually well-tolerated. In earlier studies, no serious side effects occurred with gene-corrected skin grafts in individuals with conditions like RDEB. Some grafts improved wound healing and increased the production of type VII collagen, the missing protein in RDEB. This suggests that GMEB-SASS is likely safe, as it relies on similar methods that have not caused major issues in humans. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Unlike the standard care for dystrophic epidermolysis bullosa, which typically involves wound care and pain management, the Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) introduces a groundbreaking approach by using gene-modified skin cells. This treatment is unique because it incorporates genetic modifications directly into the skin substitute, potentially addressing the root genetic cause of the disease rather than just managing symptoms. Researchers are excited about GMEB-SASS because it offers the potential for longer-lasting relief and improved skin integrity, going beyond symptom control to possibly offer a more permanent solution for patients.

What evidence suggests that this skin substitute is effective for RDEB?

Research has shown that gene-modified skin substitutes like GMEB-SASS can help heal wounds in people with Recessive Dystrophic Epidermolysis Bullosa (RDEB). In this trial, all participants will receive GMEB-SASS, which uses the patient's own skin cells, modified in a lab to produce a missing protein called type VII collagen. This protein is essential for healthy skin, and its absence leads to the wounds seen in RDEB. Studies have demonstrated that similar gene therapies have improved wound healing, reduced pain, and decreased itching in patients. The goal of GMEB-SASS is to permanently replace damaged skin cells with healthy ones, potentially offering a lasting solution for those with RDEB. ^{1 2 4 5 6}

Who Is on the Research Team?

Elena Pope, MD, FRCPC

Principal Investigator

The Hospital for Sick Children (SickKids)

Lucie Germain, PhD

Principal Investigator

CHU de Québec-Université Laval

Are You a Good Fit for This Trial?

This trial is for individuals with Recessive Dystrophic Epidermolysis Bullosa (RDEB), a genetic skin condition causing fragile skin and blisters. Participants must have wounds that could benefit from the treatment. Specific eligibility criteria are not provided, but typically include factors like age, overall health, and severity of the condition.

Inclusion Criteria

I can safely undergo anesthesia.

I (or my caregiver) understand the study and can follow its procedures.

I have large enough skin areas for at least three grafts.

Exclusion Criteria

Active drug or alcohol addiction

I am too unwell to travel to the research site.

Any medical condition or illness that may impact study participation or compromise the safety of the participants, as per the investigator's judgment

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Learning Phase (Phase A)

Initial phase to gather safety data from adult participants before including pediatric population

Up to 12 months

Multiple visits as per outcome measure timeframes

Confirmatory Phase (Phase B)

Phase to confirm safety and efficacy of GMEB-SASS in a broader population

Up to 12 months

Multiple visits as per outcome measure timeframes

Follow-up

Participants are monitored for safety and effectiveness after treatment

12 months

Visits at baseline, week 2, months 1, 3, 6, and 12

What Are the Treatments Tested in This Trial?

Interventions

• Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)

Trial Overview The study tests GMEB-SASS, a new type of gene-modified skin graft made from the patient's own cells. It aims to help heal wounds by producing a protein called type VII collagen that's missing in RDEB patients.

How Is the Trial Designed?

Group I: GMEB-SASS Experimental Treatment 1 Intervention

All patients will receive GMEB-SASS

Who Is Running the Clinical Trial?

CHU de Quebec-Universite Laval

Lead Sponsor

Trials

177

Recruited

110,000+

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT07193134

GMEB-SASS: A Gene-Modified Skin Substitute for RDEB ... This study is being done to find out if a new type of skin graft, called GMEB-SASS, is safe and effective for helping wounds heal in people ...

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11333680/

Treatment of Epidermolysis Bullosa and Future Directions Multiple human clinical trials have investigated the efficacy of intradermal injections of allogeneic fibroblasts into chronic RDEB wounds.

3. withpower.com withpower.com/trial/phase-2-skin-abnormalities-9-2025-5120c

Gene-Modified Skin Substitute for Dystrophic ... This study is being done to find out if a new type of skin graft, called GMEB-SASS, is safe and effective for helping wounds heal in people with RDEB ...

4. clinicaltrials.gov clinicaltrials.gov/study/NCT04171661

NCT04171661 | Self-Assembled Skin Substitute for the ... Single patient study. Patient diagnosed with dystrophic epidermolysis bullosa presenting chronic open wounds that are not responding to dressings, topical ...

5. med.stanford.edu med.stanford.edu/news/all-news/2025/06/epidermolysis-bullosa.html

Stanford Medicine-led phase 3 trial shows gene therapy ... A phase 3 clinical trial showed that EB patients experienced significantly better healing, less pain and less itching from wounds treated with the genetically ...

6. jamanetwork.com jamanetwork.com/journals/jama/fullarticle/2576610

Outcomes of Gene-Corrected Grafts in Recessive ... All grafts were well tolerated without serious adverse events. Some but not all grafts showed improved wound healing as well as type VII collagen expression.