Recessive Dystrophic Epidermolysis BullosaRDEBNCT01874769
Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
An observational study of Recessive Dystrophic Epidermolysis Bullosa, run by Institut National de la Santé Et de la Recherche Médicale, France at 3 sites in 2 countries.
Trial summary
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most severe rare inherited skin disorders affecting children and adults. Current medical care protocols for RDEB patients are limited to palliative procedures to treat blistering and erosive lesions, wounds, and severe local and systemic complications… Read more about this study
- Who is it for?
- Ages 7 to 65 years
- Conditions the study is for
- Recessive Dystrophic Epidermolysis Bullosa
- What is being tested?
- Blood collection and Skin biopsies
- How many people
- 30 participants
- Where
- 3 sitesin 2 countries
- Study dates
- Aug 2013to Aug 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
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 to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Adults and children with RDEB
Who may be able to join
- Confirmed molecular diagnosis of recessive dystrophic epidermolysis bullosa, established for both alleles;
- Non severe generalized clinical form of RDEB;
- Presence of type VII collagen on skin biopsy and/or western-blot analysis detected with a set of specific antibodies;
- Presence of intact skin areas without blisters, infection or erosion;
- Absence of hospitalization related to EB condition;
- Patients and their parents when applicable should be able and willing to return for follow up;
- Patients should be able and willing to give signed informed consent. For patients who are minor, informed consent will be signed by a legally authorized representative, as well as an assent form by the minor patient.
- Ability to undergo local anesthesia.
Who cannot join
- Severity of disease and presence of ill-prognostic features:
- Premature termination codon in the noncollagenous (NC1) domain of COL7A1 on both alleles;
- Absence of detectable type VII collagen expression on skin biopsy and Western blot analysis from cultured cells;
- Underlying conditions, diseases or active infections likely to increase the risk of complications or to interfere with the biological investigations:
- History of current or previous skin cancer (Squamous cell carcinoma or other malignant skin cancer);
- Current infectious diseases, including systemic infections and known positive HIV serology (Kaposi's sarcoma), hepatitis B and C;
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- History of current psychological or psychiatric disease;
- Absence of an adequate familial and social support;
- History of current or previous organ diabetes mellitus;
- Non corrected severe anemia (Hemoglobin level: < 8 g/ml);
- Non corrected iron deficiency;
- History of significant allergy to an anaesthetic procedure
- Patient currently receiving anticoagulant or anti-aggregation treatment;
- Participation in another clinical trial or therapy protocol for RDEB at the time of study inclusion
- Positive pregnancy urinary test or lactating women
- Not affiliated to the national social security/health service beneficiary and families with beneficiary children.
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
France2 sites
Service de dermatologie Necker Hospital for sick children
Paris, 75743 Cedex 15
Inserm U781 Service de Génétique Necker Hospital for sick children
Paris, 75743/ Cedex 15
United Kingdom1 site
Guy's and ST Thomas NHS Foundation trust/Guy's Hospital
London, SE19RT
About this study
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most severe rare inherited skin disorders affecting children and adults. Current medical care protocols for RDEB patients are limited to palliative procedures to treat blistering and erosive lesions, wounds, and severe local and systemic complications such as fusion and contracture of the digits, skin cancer, esophageal stricture, severe anemia, infections, malnutrition and growth retardation. However, current medical treatments still cannot prevent the recurrence of the lesions arising from defective expression of type VII collagen (COL7A1), the main constituent of anchoring fibrils which form essential structures for dermal-epidermal adherence.
The purpose of this study is to investigate the capacity of keratinocytes and fibroblasts to repair skin wounds in patients suffering from Recessive Dystrophic Epidermolysis Bullosa (RDEB).
Read the detailed description
In the perspective of future therapeutic interventions, which could involve protein, cellular and/or gene therapy, it is essential to investigate RDEB patients with regards to their immune tolerance to type VII collagen and their capacity of their cells for tissue reconstruction.
- Being tested
- Blood collection, Skin biopsies
- Keywords
- RDEB, COL7A1, Collagen VII
- Medical subject headings
- Epidermolysis Bullosa Dystrophica
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood collectionOther
- 5 ml of blood on dry tube: Verification of the absence of auto-antibodies to type VII collagen.
- 10 ml of blood sample on heparin: Verification of the absence of circulating reactive T-Lymphocytes clones to type VII collagen
- 5 ml of Blood samples on ethylenediaminetetraacetic acid (EDTA): HLA genotyping of patient selected on the clinical and molecular criteria.
Skin biopsiesOther
- A 5-mm punch skin biopsy in the groin region performed under local anaesthesic will be undertaken during visit 1.
- During the second visit, two additional 5-mm punch skin biopsies will be taken to assess stem cells proliferative capacity in 10 shortlisted patients
| Study group | Role | What they receive |
|---|---|---|
| Blood collection and skin biopsies | Not described Receives: Other: Blood collection; Other: Skin biopsies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients
Populations of keratinocytes and fibroblasts isolated from punch biopsies will be analyzed for their proliferative capacity.
Measured: Month 23
Secondary outcomes (3)
Clinical evaluation and scoring
Clinical evaluation and scoring will be assessed using The Birmingham Epidermolysis Bullosa Severity score.
Measured: Month 9
Identification of COL7A1 mutations
COL7A1 mutations will be screened by direct sequencing of peripheral blood DNA using a set of primers designed to sequence the 118 COL7A1 exons and their intronic junctions.
Measured: Month 9
Assessment of type VII collagen expression and anchoring fibrils formation in the skin
Punch biopsies of the patient skin will be taken and processed for cell culture (keratinocytes and fibroblasts) and for histological and ultrastructural analyses.
Measured: Month 9
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jun 2013 (estimated)
- Study startAug 2013
- Primary completionAug 2017
- Study completionAug 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Recessive Dystrophic Epidermolysis BullosaStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Alain Hovnanian, Prof, Principal investigator, National Institut of health and medical research
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01874769
- Sponsor's protocol ID
- C12-22
- Other IDs
- 2012-A01051-42
- Acronym
- RDEB
- Status last verified
- Jan 2025
- First submitted
- 3 Apr 2013
- Last updated
- 3 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Gaucher S, Lwin SM, Titeux M, Abdul-Wahab A, Pironon N, Izmiryan A, Miskinyte S, Ganier C, Duchatelet S, Mellerio JE, Bourrat E, McGrath JA, Hovnanian A. EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):794-797. doi: 10.1111/bjd.18559. Epub 2019 Nov 27. No abstract available.
PubMed 31557321
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
- ClinicalTrials.gov ID
- NCT01874769
- Acronym / sponsor ID
- RDEB / C12-22
- Keywords
- RDEB, COL7A1, Collagen VII
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- Aug 2013 (actual)
- Primary completion
- Aug 2017 (actual)
- Study completion
- Aug 2017 (actual)
- First posted
- 11 Jun 2013 (estimated)
- 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.
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most severe rare inherited skin disorders affecting children and adults. Current medical care protocols for RDEB patients are limited to palliative procedures to treat blistering and erosive lesions, wounds, and severe local and systemic complications such as fusion and contracture of the digits, skin cancer, esophageal stricture, severe anemia, infections, malnutrition and growth retardation. However, current medical treatments still cannot prevent the recurrence of the lesions arising from defective expression of type VII collagen (COL7A1), the main constituent of anchoring fibrils which form essential structures for dermal-epidermal adherence.
The purpose of this study is to investigate the capacity of keratinocytes and fibroblasts to repair skin wounds in patients suffering from Recessive Dystrophic Epidermolysis Bullosa (RDEB).
Detailed description
In the perspective of future therapeutic interventions, which could involve protein, cellular and/or gene therapy, it is essential to investigate RDEB patients with regards to their immune tolerance to type VII collagen and their capacity of their cells for tissue reconstruction.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Blood collection and skin biopsies | – | Other: Blood collection, Other: Skin biopsies |
Who may qualify
- Ages
- 7 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Adults and children with RDEB
Key inclusion criteria (8 listed)
- Confirmed molecular diagnosis of recessive dystrophic epidermolysis bullosa, established for both alleles;
- Non severe generalized clinical form of RDEB;
- Presence of type VII collagen on skin biopsy and/or western-blot analysis detected with a set of specific antibodies;
- Presence of intact skin areas without blisters, infection or erosion;
- Absence of hospitalization related to EB condition;
Key exclusion criteria (16 listed)
- Severity of disease and presence of ill-prognostic features:
- Underlying conditions, diseases or active infections likely to increase the risk of complications or to interfere with the biological investigations:
- Not affiliated to the national social security/health service beneficiary and families with beneficiary children.
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 |
|---|---|---|
| Blood collection* 5 ml of blood on dry tube: Verification of the absence of auto-antibodies to type VII collagen. * 10 ml of blood sample on heparin: Verification of the absence of circulating reactive T-Lymphocytes clones to type VII collagen * 5 ml of Blood samples on ethylenediaminetetraacetic acid (EDTA): HLA genotyping of patient selected on the clinical and molecular criteria. | Other | Blood collection and skin biopsies |
| Skin biopsies* A 5-mm punch skin biopsy in the groin region performed under local anaesthesic will be undertaken during visit 1. * During the second visit, two additional 5-mm punch skin biopsies will be taken to assess stem cells proliferative capacity in 10 shortlisted patients | Other | Blood collection and skin biopsies |
Primary outcome
Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients
Time frame: Month 23
Populations of keratinocytes and fibroblasts isolated from punch biopsies will be analyzed for their proliferative capacity.
3 secondary outcomes
Clinical evaluation and scoring
Time frame: Month 9
Identification of COL7A1 mutations
Time frame: Month 9
Assessment of type VII collagen expression and anchoring fibrils formation in the skin
Time frame: Month 9
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Mar 2026.
- Results publication: PubMed 31557321Gaucher S, Lwin SM, Titeux M, Abdul-Wahab A, Pironon N, Izmiryan A, Miskinyte S, Ganier C, Duchatelet S, Mellerio JE, Bourrat E, McGrath JA, Hovnanian A. EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):794-797. doi: 10.1111/bjd.18559. Epub 2019 Nov 27. No abstract available.
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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. This study is not recruiting at the moment.
Alain Hovnanian, Prof principal investigator
National Institut of health and medical research
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Recessive Dystrophic Epidermolysis Bullosa, run by Institut National de la Santé Et de la Recherche Médicale, France at 3 sites in 2 countries.
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 8 inclusion and 16 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: finished, as of the sponsor's last update on 3 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 3 sites in France, United Kingdom. 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.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determination of the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients (time frame: Month 23). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01874769, which also lists 1 linked publication.
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 3 Mar 2026.