Prevalence of TTR Mutations in Cardiac Amyloidosis
Research type
Research Study
Full title
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
IRAS ID
171907
Contact name
Lisa Anderson
Contact email
Sponsor organisation
Alnylam Pharmaceuticals, Inc.
Duration of Study in the UK
1 years, 9 months, 22 days
Research summary
Familial amyloid cardiomyopathy (FAC), results from collection of mutant/wild-type transport protein, called Transthyretin, in the heart.
Eventually, progression of the disease in the heart muscle limits patient capabilities (restrictive cardiomyopathy) and heart failure is seen.
The purpose of this study is to characterise the frequency of the TTR mutation in patients suspected of having cardiac amyloidosis. Patients who are found to be eligible for the study will be consented and DNA blood sample taken for genetic testing for the TTR mutation. All participants will have a follow-up visit scheduled approximately 1-3 months after their initial visit. The follow-up visit should be scheduled no later than 30 days after the site receives the genotyping results from the central laboratory. Participants who are found negative for a TTR mutation will be informed of the results during this visit. No further assessments will be performed. For subjects who are found positive for a TTR mutation, a referral to a genetic counsellor will be offered, further medical information collected and further tests performed.
This is a multicentre, multinational study examining the prevalence of TTR mutations in patients suspected of having cardiac amyloidosis.
Participants who are diagnosed with FAC with a TTR mutation may be eligible for enrolment in future Phase 3 studies.REC name
London - Hampstead Research Ethics Committee
REC reference
15/LO/0208
Date of REC Opinion
12 Mar 2015
REC opinion
Further Information Favourable Opinion