Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa
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ClinicalTrials.gov Identifier: NCT02493816 |
Recruitment Status :
Completed
First Posted : July 10, 2015
Last Update Posted : September 24, 2019
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Condition or disease | Intervention/treatment | Phase |
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Recessive Dystrophic Epidermolysis Bullosa | Drug: Gene-modified autologous fibroblasts | Phase 1 |
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of blistering skin disease caused by mutations in COL7A1 gene. This study aims to assess the safety of intradermal injections of gene-modified autologous fibroblasts in 5-10 adults with RDEB.
This is an open-label single-centre phase I study with primary objective to evaluate the adverse and serious adverse events over 12 months' follow-up period. Secondary objectives include (1) analysis of type VII collagen (C7) expression and morphology of anchoring fibrils in the injected areas of the skin; (2) analysis of immune response to newly expressed C7.
Each study participant will receive three intradermal injections of COL7A1 gene-modified autologous fibroblasts on Day 0 only. Each subject will undergo an initial screening including a physical examination and assessment of disease severity. Blood analyses and skin biopsies will be performed at various time points as per the monitoring schedule over 12 months.
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 5 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | Phase I Study of Lentiviral-mediated COL7A1 Gene-modified Autologous Fibroblasts in Adults With Recessive Dystrophic Epidermolysis Bullosa. |
Actual Study Start Date : | September 2015 |
Actual Primary Completion Date : | March 2018 |
Actual Study Completion Date : | March 2018 |

Arm | Intervention/treatment |
---|---|
Experimental: Gene-modified autologous fibroblasts
3 intradermal injections of COL7A1 gene-modified autologous fibroblasts will be administered on day 0 only.
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Drug: Gene-modified autologous fibroblasts
3 intradermal injections of COL7A1 gene-modified autologous fibroblasts will be administered on day 0 only.
Other Name: COL7A1 gene-modified autologous fibroblasts |
- Adverse events (AEs), Serious Adverse Events (SAEs), Adverse Reactions (ARs) and Serious Adverse Reactions (SARs) at each visit over 12 months' follow up period. [ Time Frame: 12 months ]
- Type VII collagen protein expression, measured by direct immunofluorescence, in the treated and untreated skin [ Time Frame: Week 2, Month 3 and Month 12 ]
- Morphology of anchoring fibrils, measured by transmission electron microscopy, in the treated and untreated skin [ Time Frame: Week 2, Month 3 and Month 12 ]
- Vector copy number, measured by q-PCR, in the treated and untreated skin [ Time Frame: Week 2, Month 3 and Month 12 ]
- Anti-type VII collagen antibodies measured by ELISA and indirect immunofluorescence [ Time Frame: Week 2, Month 1, Month 3, Month 6 and Month 12 ]
- T-cell responses to full length type VII collagen measured by ELISPOT [ Time Frame: Week 2, Month 1, Month 3, Month 6 and Month 12 ]

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Ages Eligible for Study: | 17 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Clinical and genetic diagnosis of RDEB with confirmed bi-allelic COL7A1 mutations.
- A reduced number or morphologically abnormal anchoring fibrils confirmed by TEM.
- At least 5x8cm of intact skin on the trunk and/or extremities that is suitable for cell injections.
- Able to undergo local anaesthesia.
- Subjects aged ≥ 17 years and able to give informed consent prior to the first study intervention.
Exclusion Criteria:
- Subjects who received other investigational medicinal products within 6 months prior to enrolment into this study.
- Past medical history of biopsy proven skin malignancy.
- Subjects who have received 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.
- Known allergy to any of the constituents of the investigational medicinal product (IMP).
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Subjects with BOTH:
- positive serum antibodies to C7 confirmed by ELISA and
- positive IIF with binding to the base of salt split skin.
- Subjects who are pregnant or of child-bearing potential who are neither abstinent nor practising 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 12 months after the cell injections.
- Subjects with positive results for HIV, Hepatitis B, Hepatitis C, HTLV or Syphilis.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02493816
United Kingdom | |
Guy's and St Thomas' NHS Foundation Trust | |
London, United Kingdom, SE1 9RT |
Principal Investigator: | John A McGrath, FRCP | King's College London |
Documents provided by King's College London:
Other Publications:
Responsible Party: | King's College London |
ClinicalTrials.gov Identifier: | NCT02493816 |
Other Study ID Numbers: |
LENTICOL-F |
First Posted: | July 10, 2015 Key Record Dates |
Last Update Posted: | September 24, 2019 |
Last Verified: | August 2018 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica Skin Abnormalities Congenital Abnormalities Skin Diseases, Genetic |
Genetic Diseases, Inborn Skin Diseases Skin Diseases, Vesiculobullous Collagen Diseases Connective Tissue Diseases |