Study to Evaluate QR-313 in subjects with Recessive Dystrophic Epidermolysis Bullosa (RDEB) due to mutation(s) in exon 73 of the COL7A1 gene

Phase 1

• Conditions: Recessive Dystrophic Epidermolysis Bullosa (RDEB) due to mutation(s) in exon 73 of the COL7A1 gene; MedDRA version: 20.0 Level: PT Classification code 10014989 Term: Epidermolysis bullosa System Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Skin and Connective Tissue Diseases [C17]

• Registration Number: EUCTR2017-004806-17-GB
• Lead Sponsor: Wings Therapeutics Inc.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-01-24
• Last Update Posted: 25 November 2019

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: Not specified
• Target Recruitment: 8

Inclusion Criteria

1. Male or female, = 6 years of age at Screening with a clinical diagnosis of RDEB with confirmation of at least one of the alleles of the COL7A1 gene containing one or more pathogenic mutations in exon 73.
2. Have at least one TWA of 10 x 10 cm that shows dynamic wound healing, no signs of local infection and in which a wound can be selected with the following criteria:
a. a surface area ranging from 5 to 60 cm2
b. open wound that has healing potential
c. exposed sub-epidermal tissue to allow absorption of the IMP
d. no suspicion of current squamous cell carcinoma (SCC) upon visual inspection

Are the trial subjects under 18? yes
Number of subjects for this age range: 4
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 4
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1. Pregnant or breast-feeding female
2. Hemoglobin level at Screening requiring transfusion. The subject may be rescreened when the condition is considered stable
3. Untreated carcinoma of the TWA or history of carcinoma within 5 years prior to Screening, except adequately treated cutaneous squamous or basal cell carcinoma.
4. Life expectancy less than 6 months, as assessed by the Investigator
5. Current or known history of clinically significant hepatic or renal disease, that in the opinion of the Investigator, could impact subject safety or study participation.
6. Treatment with any systemic immunomodulators, immunosuppressants or cytotoxic chemotherapy within 2 months prior to the Baseline visit.
7. Known hypersensitivity to oligonucleotide treatment or any of the excipients of the IMP (see Section 3.1 in the IB).

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified