Ex Vivo Gene Therapy Clinical Trial for RDEB Using Genetically Corrected Autologous Skin Equivalent Grafts

Plain-language summary

This study looks at an ex vivo gene therapy for recessive dystrophic epidermolysis bullosa (RDEB), an inherited skin disease, using skin grafts made from the patient's own cells that have been genetically corrected. It enrolled patients aged 18 and over with confirmed bi-allelic COL7A1 mutations who had wound areas suitable for skin grafting. The study is in Phase 1/Phase 2 and is currently not recruiting but is still ongoing (active, not recruiting).

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

PHASE1/PHASE2

Status

Active, not recruiting

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Intervention

COL7A1-SIN retroviral vector engineered autologous tissue-engineered skin

Start date

1/10/2020

Estimated completion

6/9/2027

Countries

France

Related genes

Locations

• Paris, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. Clinical and molecular diagnosis of RDEB with confirmed bi-allelic COL7A1 mutations
2. Reduced staining of C7 on skin biopsy, measured by immunofluorescence microscopy (IF)
3. A reduced number of/or morphologically abnormal anchoring fibrils confirmed by TEM
4. Detection of non-collagenous-1 domain (NC-1) of C7 on skin biopsy, measured by immunofluorescence microscopy (IF) and/or Western blot (WB) analysis
5. Presence of ≥100cm2 of blistered and/or erosive skin areas including chronic wounds suitable for skin grafting
6. Ability to undergo anaesthesia for skin grafting procedures
7. Subjects aged 18 years, willing and able to give informed consent

Exclusion Criteria:

1. Recipients of other investigational medicinal products within 6 months prior to enrolment into this study
2. Past medical history of biopsy proven skin malignancy
3. Immunotherapy including oral corticosteroids (Prednisolone \>1mg/kg) for more than one week (intranasal and topical preparations are permitted) or chemotherapy within 60 days of enrolment into this study
4. Known allergy to any of the constituents of the investigational medicinal product (IMP) including Penicillin
5. Subjects with BOTH:

   * positive serum antibodies to C7 confirmed by ELISA and
   * positive IIF with binding to the base of salt split skin and/or
   * positive Western blot
6. Positive results for HIV, Hepatitis BsAg, Hepatitis BcAb, Hepatitis C IgG, HTLV1\&2 or Syphilis serology
7. Clinically significant medical, psychological or laboratory abnormalities limiting the ability of the subject to travel to the trial site(s) and to undergo grafting and follow-up procedures, as determined by the Investigator
8. Absence of adequate social support
9. Subjects who are pregnant, breast-feeding or of child-bearing potential who are neither abstinent nor practicing an acceptable means of contraception when this is in line with the usual and preferred lifestyle of the subject, as determined by the Investigator, for the duration of the trial