THOR - Tübingen Choroideremia Gene Therapy Trial

Summary

An open label monocentric phase II trial in adult males with a clinical phenotype of choroideremia and a confirmed molecular diagnosis of a null mutation in the gene encoding REP1 to assess the anatomical and functional outcomes, as well as the safety of a single subretinal injection of rAAV2.REP1 in 6 subjects with genetically confirmed choroideremia for up to 24 months.

Timeline

Start

2016-01

Primary completion

2018-02

Completion

2018-02

Outcome

Missed primary endpoint

paper difference, 3.7; 95% CI, -7.2 to 14.5; P = .43). PMID 31465092 ↗

Publications

• Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt KU, Wilhelm B. Efficacy and Safety of Retinal Gene Therapy Using Adeno-Associated Virus Vector for Patients With Choroideremia: A Randomized Clinical Trial. JAMA Ophthalmol. 2019 Nov 1;137(11):1247-1254. doi: 10.1001/jamaophthalmol.2019.3278.

Drugs

Indications