AGLU07310 Amend 2:Exploratory Muscle Biopsy Assessment Study (EMBASSY)
Research type
Research Study
Full title
A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker and Imaging Assessment Study in Patients with Late-onset Pompe Disease treated with Algucosidase Alfa
IRAS ID
83011
Contact name
Volker Straub
Sponsor organisation
Genzyme Corporation BV
Eudract number
2010-020611-36
ISRCTN Number
N/a
Clinicaltrials.gov Identifier
Research summary
This is an exploratory muscle biopsy study in patients with Late-onset Pompe disease treated with Alglucosidase Alfa.The objectives of the study are to assess the effects of Alglucosidase Alfa (AA), to charactarise the disease and its effects on patients and to look for useful biomarkers.Pompe is a rare, genetic disease caused by deficiency of an enzyme which breaks down glycogen. The glycogen then accumulates in body tissues, especially cardiac and respiratory muscles as well as other major skeletal muscles. There are two classes of Pompe disease ?? infantile and late-onset, with varying rates of progression. Most late-onset patients become wheelchair bound, and both classes result in premature death.AA is an enzyme replacement therapy (ERT) licensed for patients with Pompe disease, which has shown a positive effect, and the additional information to be gathered from this study is intended to be used in the development of improved treatments and less invasive methods of diagnosis.To be eligible for the study, patients would need to be aged 18 or over, with confirmed Pompe disease and no previous treatment with an ERT, and their disease should not be in the later stages of progression.The study will recruit a total of 15 subjects, with participating (hospital) sites in Europe and the USA. It will be funded by the Genzyme Corporation. Patients will have 17 study visits over a 6-month period, at approximately 2-weekly intervals when they will be given AA treatment by infusion (slowly into a vein, taking approximately 4 hours). MRI scans, electrocardiograms (ECGs) and biopsies (samples) of muscle will be taken at the start and end of the study. Some physical assessments will be done at the start, middle and end of the study and blood and urine samples will be taken at most visits.
REC name
North East - Tyne & Wear South Research Ethics Committee
REC reference
11/NE/0161
Date of REC Opinion
12 Oct 2011
REC opinion
Further Information Favourable Opinion