RDEBPhase 1/2NCT07193134
GMEB-SASS: A Gene-Modified Skin Substitute for RDEB Treatment
A Phase 1/2 study testing Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) in people with RDEB and Recessive Dystrophic Epidermolysis Bullosa, run by CHU de Quebec-Universite Laval at 1 site in Canada.
Trial summary
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 (Recessive Dystrophic Epidermolysis Bullosa). The GMEB-SASS graft contains two types of living skin cells: keratinocytes and fibroblasts. Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- RDEB, Recessive Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica, Recessive
- What is being tested?
- Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 1 siteCanada
- Study dates
- 7 Jan 2026to Dec 2035
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Age
- Learning phase:
- Subjects 1 to 3: Eighteen (18) years old or older.
- Subjects 4 to 6: Twelve (12) years old or older.
- Subjects 7 to 9: Seven (7) years old or older.
- Other Inclusion Criteria:
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- Clinical diagnosis of recessive dystrophic epidermolysis bullosa (RDEB) with confirmed biallelic pathogenic variant in the COL7A1 gene.
- Candidates - or their parents/caregivers if the candidates have limited comprehension, who are able to understand the study and to comply with the study procedures.
- On the day of grafting, one or more blistered and/or erosive skin areas on the trunk and/or extremities large enough to graft at least three 25 to 50 cm2 GMEB-SASS grafts.
- Ability to undergo anesthesia.
Who cannot join
- Medical instability limiting the ability to travel to the investigative center.
- Any medical condition or illness that may impact study participation or compromise the safety of the participants, as per the investigator's judgment.
- Evidence of systemic infection.
- Current evidence or a history of non-metastatic or metastatic squamous cell carcinoma at the site to be grafted.
- Any clinically significant abnormal laboratory values or abnormal findings identified during physical examination or through medical history that could compromise participant safety, as per the investigator's judgment.
- History of or known allergy to bovine proteins.
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- Active drug or alcohol addiction.
- Female candidate who are pregnant or breast-feeding.
- Candidate who has received immunotherapy, including oral corticosteroids (Prednisolone > 1 mg/kg), for more than one week, within 2 weeks prior to the study intervention (initial biopsy and GMEB-SASS grafting) (intranasal and topical preparations are permitted).
- Candidate who has received chemotherapy within 60 days prior to the study intervention (initial biopsy and GMEB-SASS grafting).
- Candidate who has received, in the last 6 months prior to the study intervention (initial biopsy and GMEB-SASS grafting), any gene therapy, chemical or biological product modifying collagen 7 expression.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Canada1 site, 1 recruiting
- Recruiting
The Hospital for Sick Children (SickKids)
Toronto, Ontario, M5G 1E8
Hanna Fadzeyeva, 416-813-7835, hanna.fadzeyeva@sickkids.ca
Pope Elena, MD, FRCPC, 416-813-6883, Elena.Pope@sickkids.ca
About this study
Official title: Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) to Treat Patients Suffering From Recessive Dystrophic Epidermolysis Bullosa (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 with RDEB (Recessive Dystrophic Epidermolysis Bullosa).
The GMEB-SASS graft contains two types of living skin cells: keratinocytes and fibroblasts. It is made in a laboratory using a small sample of the patient's own skin.
Read more
To help the patient's skin cells produce a missing protein called type VII collagen, scientists grow the patient's cells in the lab and use a virus-like tool (called a retroviral vector) to give the cells the correct instructions. This allows the cells to make the normal protein that is missing in people with RDEB.
The graft is designed to be permanent, and the goal is to improve wound healing by replacing damaged skin cells with healthy ones.
Read the detailed description
The GMEB-SASS is a skin tissue composed of living cells genetically modified in the laboratory to express a functional form of type VII collagen. The GMEB-SASS integrates with the patient's skin once grafted. The graft is autologous and expected to be permanent.
This is a first-in-human trial aiming to explore indications of the safety and efficacy of the GMEB-SASS skin graft in healing skin wounds in RDEB patients. Adults and children are included. However, a risk mitigation measure was added in order that at least some safety data from adults be available before the pediatric population is treated. Therefore, the study design is adaptative and divided into two phases: a learning phase (phase A) and a confirmatory phase (phase B).
In the present trial, the investigators hypothesize that retroviral transfer of the COL7A1 gene, combined with the use of the self-inactivated (SIN) COL7A1 vector, will restore a functional dermo-epidermal junction in the bilayer tissue-engineered skin produced at the LOEX research center by the self-assembly method. The method for the production of substitutes is similar to the one used in the ongoing clinical trial for the treatment of burn patients (ClinicalTrials.gov Identifier: NCT02350205) using SASS, with the exception of gene modification.
An important issue in RDEB patients is that their skin is colonized by bacteria due to the continuous presence of wounds. The method used to decontaminate the graft bed is crucial to ensure proper integration of the GMEB-SASS. The proposed intervention in this trial involves two surgical steps: the use of allografts to prepare the graft bed in a first step, followed by the application of the GMEB-SASS a few days later. This approach will be applied to at least participants enrolled in Phase A of the study.
The maximum daily dose per grafting session is the number of GMEB-SASS covering a maximum of 9% of the total body surface area. The number will be calculated based on the participant's height, weight, and age.
- Conditions
- RDEB, Recessive Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica, Recessive
- Being tested
- Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)
- Keywords
- Skin Abnormalities, Congenital Abnormalities, Epidermolysis Bullosa, Skin Diseases, Genetic, Genetic Diseases, Inborn, Collagen Diseases, Connective Tissue Diseases, Skin and Connective Tissue Diseases, Skin Diseases, Skin Diseases, Vesiculobullous, Epidermolysis Bullosa Dystrophica, Genetic therapy, Autologous Skin Graft, SIN Retroviral Vector, Type VII Collagen, COL7A1
- Medical subject headings
- Epidermolysis Bullosa Dystrophica, Skin Abnormalities, Congenital Abnormalities, Epidermolysis Bullosa, Skin Diseases, Genetic, Genetic Diseases, Inborn, Collagen Diseases, Connective Tissue Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)Drug
Wound debridement will be performed, followed by the application of temporary allogeneic skin grafts for 3-5 days. The allografts will then be removed, and the GMEB-SASS grafts will be applied.
| Study group | Role | What they receive |
|---|---|---|
| GMEB-SASS | Experimental | All patients will receive GMEB-SASS Receives: Drug: Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Adverse events
Record of Adverse Events (AE), Serious Adverse Events (SAEs), Adverse Reactions (ARs) and Serious Adverse Reactions (SARs).
Measured: Up to 12 months
Pain score changes using a Visual Analogue Scale (VAS)
Pain score of the grafted wounds for the past 7 days. Horizontal line, typically 10 centimeters in length, anchored by two verbal descriptors: 0 = No pain; 10 = Worst pain possible.
Measured: Baseline, week 2, months 1, 3, 6 and 12
Itch score changes using a Visual Analogue Scale (VAS)
Itch score of the grafted wounds for the past 7 days (100-point visual analog scale). Horizontal line, typically 10 centimeters in length, anchored by two verbal descriptors: 0 = No itch, 100 = Worst itch Time Frame: Baseline, week 2, months 1, 3, 6 and 12
Measured: Baseline, week 2, months 1, 3, 6 and 12 post intervention
Secondary outcomes (3)
Percentage of the grafted GMEB-SASS surface area that has healed
Percentage of epithelialization
Measured: Week 2, months 1, 3, 6 and 12 post intervention
iscorEB questionnaire - clinician portion
Instrument for scoring clinical severity outcomes for research of EB. iscorEB is a measurement tool for evaluating the disease severity in EB patient. It evaluates the cutaneous, mucosal and other organ impact of EB and includes clinician and patient reported outcomes in a single instrument. Score ranges between 0-138 for the clinician subscore.
Measured: Baseline, months 3 and 12 post intervention
Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI)
Instrument for scoring clinical severity outcomes for research of EB. Total EBDASI activity score ranges of 0-42 (mild), 43-106 (moderate) and 107-506 (severe).
Measured: Time Frame: Baseline, months 3 and 12 post intervention
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Sep 2025
- Study start7 Jan 2026
- Primary completionDec 2030 (estimated)
- Study completionDec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RDEBStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 9 participants (estimated)
Sponsor and investigators
- Lead sponsor
- CHU de Quebec-Universite Laval
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Lucie Germain, PhD, Study director, CHU de Québec-Université LavalElena Pope, MD, FRCPC, Principal investigator, The Hospital for Sick Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07193134
- Sponsor's protocol ID
- LOEX 020
- Other IDs
- 291541
- Status last verified
- Mar 2026
- First submitted
- 16 Sep 2025
- Last updated
- 18 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) to Treat Patients Suffering From Recessive Dystrophic Epidermolysis Bullosa (RDEB)
- ClinicalTrials.gov ID
- NCT07193134
- Acronym / sponsor ID
- LOEX 020
- Conditions
- RDEB, Recessive Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica, Recessive
- Keywords
- Skin Abnormalities, Congenital Abnormalities, Epidermolysis Bullosa, Skin Diseases, Genetic, Genetic Diseases, Inborn, Collagen Diseases, Connective Tissue Diseases, Skin and Connective Tissue Diseases
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 9 participants (estimated)
- Lead sponsor
- CHU de Quebec-Universite LavalUniversity, hospital or other
- Study start
- 7 Jan 2026 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2035 (estimated)
- First posted
- 25 Sep 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 (Recessive Dystrophic Epidermolysis Bullosa).
The GMEB-SASS graft contains two types of living skin cells: keratinocytes and fibroblasts. It is made in a laboratory using a small sample of the patient's own skin.
To help the patient's skin cells produce a missing protein called type VII collagen, scientists grow the patient's cells in the lab and use a virus-like tool (called a retroviral vector) to give the cells the correct instructions. This allows the cells to make the normal protein that is missing in people with RDEB.
The graft is designed to be permanent, and the goal is to improve wound healing by replacing damaged skin cells with healthy ones.
Detailed description
The GMEB-SASS is a skin tissue composed of living cells genetically modified in the laboratory to express a functional form of type VII collagen. The GMEB-SASS integrates with the patient's skin once grafted. The graft is autologous and expected to be permanent.
This is a first-in-human trial aiming to explore indications of the safety and efficacy of the GMEB-SASS skin graft in healing skin wounds in RDEB patients. Adults and children are included. However, a risk mitigation measure was added in order that at least some safety data from adults be available before the pediatric population is treated. Therefore, the study design is adaptative and divided into two phases: a learning phase (phase A) and a confirmatory phase (phase B).
In the present trial, the investigators hypothesize that retroviral transfer of the COL7A1 gene, combined with the use of the self-inactivated (SIN) COL7A1 vector, will restore a functional dermo-epidermal junction in the bilayer tissue-engineered skin produced at the LOEX research center by the self-assembly method. The method for the production of substitutes is similar to the one used in the ongoing clinical trial for the treatment of burn patients (ClinicalTrials.gov Identifier: NCT02350205) using SASS, with the exception of gene modification.
An important issue in RDEB patients is that their skin is colonized by bacteria due to the continuous presence of wounds. The method used to decontaminate the graft bed is crucial to ensure proper integration of the GMEB-SASS. The proposed intervention in this trial involves two surgical steps: the use of allografts to prepare the graft bed in a first step, followed by the application of the GMEB-SASS a few days later. This approach will be applied to at least participants enrolled in Phase A of the study.
The maximum daily dose per grafting session is the number of GMEB-SASS covering a maximum of 9% of the total body surface area. The number will be calculated based on the participant's height, weight, and age.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GMEB-SASS | Experimental | Drug: Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)All patients will receive GMEB-SASS |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (10 listed)
- Age
- Subjects 1 to 3: Eighteen (18) years old or older.
- Subjects 4 to 6: Twelve (12) years old or older.
- Subjects 7 to 9: Seven (7) years old or older.
- Clinical diagnosis of recessive dystrophic epidermolysis bullosa (RDEB) with confirmed biallelic pathogenic variant in the COL7A1 gene.
Key exclusion criteria (11 listed)
- Medical instability limiting the ability to travel to the investigative center.
- Any medical condition or illness that may impact study participation or compromise the safety of the participants, as per the investigator's judgment.
- Evidence of systemic infection.
- Current evidence or a history of non-metastatic or metastatic squamous cell carcinoma at the site to be grafted.
- Any clinically significant abnormal laboratory values or abnormal findings identified during physical examination or through medical history that could compromise participant safety, as per the investigator's judgment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS)Wound debridement will be performed, followed by the application of temporary allogeneic skin grafts for 3-5 days. The allografts will then be removed, and the GMEB-SASS grafts will be applied. | Drug | GMEB-SASS |
Primary outcome
Adverse events
Time frame: Up to 12 months
Record of Adverse Events (AE), Serious Adverse Events (SAEs), Adverse Reactions (ARs) and Serious Adverse Reactions (SARs).
Pain score changes using a Visual Analogue Scale (VAS)
Time frame: Baseline, week 2, months 1, 3, 6 and 12
Pain score of the grafted wounds for the past 7 days. Horizontal line, typically 10 centimeters in length, anchored by two verbal descriptors: 0 = No pain; 10 = Worst pain possible.
Itch score changes using a Visual Analogue Scale (VAS)
Time frame: Baseline, week 2, months 1, 3, 6 and 12 post intervention
Itch score of the grafted wounds for the past 7 days (100-point visual analog scale). Horizontal line, typically 10 centimeters in length, anchored by two verbal descriptors: 0 = No itch, 100 = Worst itch Time Frame: Baseline, week 2, months 1, 3, 6 and 12
3 secondary outcomes
Percentage of the grafted GMEB-SASS surface area that has healed
Time frame: Week 2, months 1, 3, 6 and 12 post intervention
iscorEB questionnaire - clinician portion
Time frame: Baseline, months 3 and 12 post intervention
Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI)
Time frame: Time Frame: Baseline, months 3 and 12 post intervention
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for RDEB
Not yet recruitingPhase 4
Phase 4 Master Protocol for Patients Prescribed Prademagene Zamikeracel for the Treatment of Wounds
Epidermolysis Bullosa (EB), Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Enrolling by invitationObservational study
A Long-Term Extension Study for Participants Previously Treated With EB-101 for the Treatment of RDEB
RDEB
RecruitingObservational study
A Long-Term Safety Follow-up Registry for Patients Who Received Treatment With Prademagene Zamikeracel for Recessive Dystrophic Epidermolysis Bullosa (RDEB) in the Post-Marketing Setting
Recessive Dystrophic Epidermolysis Bullosa
Not yet recruiting
Treatment of Dysphagia in Patients With Dystrophic Epidermolysis Bullosa With Budesonide: a Retrospective Bicentric Study Nice - Paris St Louis / Necker (EBUDE Study)
Recessive Dystrophic Epidermolysis Bullosa, Dysphagia
Not yet recruitingPhase 1/2
Targeting Collagen VII Antibodies in Bullous Diseases Using Efgartigimod IV (VYVGART)
Epidermolysis Bullosa (EB), Epidermolysis Bullosa Acquisita
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Lucie Germain, PhD study director
CHU de Québec-Université Laval
Elena Pope, MD, FRCPC principal investigator
The Hospital for Sick Children
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Genetically Modified Epidermolysis Bullosa Self-Assembled Skin Substitute (GMEB-SASS) in people with RDEB and Recessive Dystrophic Epidermolysis Bullosa, run by CHU de Quebec-Universite Laval at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Lucie Germain, PhD (418-525-4444 ext. 61696, lucie.germain@fmed.ulaval.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Adverse events (time frame: Up to 12 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Mar 2026.