Amicus - POM-003
Research type
Research Study
Full title
A Prospective Non-interventional Study in Subjects with Late-onset Pompe Disease who are Currently Being Treated with Enzyme Replacement Therapy
IRAS ID
235807
Contact name
Mark Roberts
Contact email
Sponsor organisation
Amicus Therapeutics, Inc.
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
This study is a prospective study where participants with Late-onset Pompe disease (LOPD) will be monitored over a period of up to 66 weeks to see how effective their current standard of care enzyme replacement therapy (ERT) is.
Pompe-disease is a genetic disease people are born with caused by change in the genetic material resulting in lower levels of an enzyme called acid alpha-glucosidase (GAA). The GAA enzyme helps the body to break down glycogen, a type of stored sugar. When glycogen is not broken down properly, it builds up in the muscle cells and they are not able to function normally. This causes symptoms of Pompe disease.
This study does not involve testing a new type of drug. The study will collect information about disease-related traits in patients with Pompe disease who take enzyme replacement therapy to understand how ERT impacts their day to day lives.
Data collected during the study will include clinical laboratory tests (via blood samples), and specific tests that you will be asked to perform to assess how strong a participant is.
Additionally, the study will involve completing questionnaires about the patients health, Lung Function Tests (i.e. breathing capacity), Motor Function (i.e. ability to move), Muscle Strength, endurance (exercise tolerance) and biochemistry (levels of certain chemicals in the blood).
The data from this study is intended to help develop research studies of study drugs in the future for LOPD.REC name
London - Surrey Research Ethics Committee
REC reference
18/LO/0427
Date of REC Opinion
20 Mar 2018
REC opinion
Unfavourable Opinion