Natural History Study of CBSDH
Research type
Research Study
Full title
A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cytathionine Beat-synthase Deficiency in Pediatric and Adult Patients
IRAS ID
216679
Contact name
Reena Sharma
Contact email
Sponsor organisation
Orphan Technologies
Duration of Study in the UK
4 years, 1 months, 22 days
Research summary
This is an observational, prospective, Natural History Study to learn more about homocystinuria and the course of the disease.
The purpose of the study is to document current patient management strategies and the rate of disease progression. About 100 people will participate in the study. Patients will remain in the study for 3 years.
A number of assessments and procedures will be performed during the study including physical examinations, blood sample assessments, bone density scans and patient questionnaires to assess the participants’ ongoing health.
The study will be run at 2 centres in the UK and is sponsored by Orphan Technologies Ltd.
REC name
North West - Greater Manchester Central Research Ethics Committee
REC reference
17/NW/0008
Date of REC Opinion
9 Mar 2017
REC opinion
Further Information Favourable Opinion