Homocystinuria v1.0
Research type
Research Study
Full title
A Phase 1/2 Multiple Ascending-Dose Study in Subjects With Homocystinuria Due to Cystathionine β-Synthase (CBS) Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of ACN00177
IRAS ID
277929
Contact name
Peter Parsonson
Contact email
Sponsor organisation
Aeglea Biotherapeutics, Inc.
Eudract number
2019-004791-19
Duration of Study in the UK
1 years, 0 months, 15 days
Research summary
The study Sponsor, Aeglea Biotherapeutics, Inc., is developing a drug, ACN00177, a recombinant human enzyme to treat Subjects with homocystinuria due to cystathionine-β-synthase (CBS) deficiency.
Homocystinuria is a rare disease caused by a defect in a specific gene that causes a deficiency in an enzyme CBS in the body. This enzyme helps to break down two components of proteins, homocysteine and homocystine. When CBS is not working properly, homocysteine can build up in the blood. This can cause serious effects on growth, learning ability, and health.
ACN00177 is a pegylated, engineered human enzyme designed to degrade homocysteine and homocystine. ACN00177 was developed by direct mutagenesis of the active site of human cystathionine gamma lyase (CBL), which resulted in a molecule that has high substrate specificity for homocysteine and homocystine but not for the native substrate, cystathionine.
This Phase 1/2 study is an open label trial designed to evaluate the safety, pharmacokinetics and pharmacodynamics of multiple ascending doses of ACN00177 in patients with homocystinuria due to CBS deficiency. The study is composed of 2 parts: a single IV (intravenous) cohort of 4 patients in Part 1 who will receive 4 once-weekly (QW) doses of study drug followed by 3 planned SC (subcutaneous) cohorts of 4 patients each in Part 2 who will receive 4 QW doses of study drug.
The study will enroll approximately 25 adult or paediatric patients with homocystinuria with CBS deficiency, at 4 or 5 sites in the UK.REC name
London - London Bridge Research Ethics Committee
REC reference
20/LO/0229
Date of REC Opinion
11 May 2020
REC opinion
Further Information Favourable Opinion