Retro LOPD
Research type
Research Study
Full title
A Retrospective Characterization of Response to Enzyme Replacement Therapy in Late-onset Pompe Disease
IRAS ID
242752
Contact name
Mark Roberts
Contact email
Sponsor organisation
Amicus Therapeutics, Inc
Clinicaltrials.gov Identifier
37197, CPMS ID
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
This is a retrospective, non-interventional, multi-center study. The purpose of the study is to characterize the natural history of late-onset Pompe disease (LOPD) in patients treated with approved enzyme replacement therapy (ERT) and to examine the potential predictors of response to ERT in patients with LOPD.
Enzyme replacement therapy (alglucosidase alfa) was approved for LOPD in 2010. Analysis of the existing clinical outcomes data on ERT reveals significant variability in response to ERT without any specific factors that predict efficacy of ERT in a given patient. The variable nature of the response to current standard of care ERT and lack of knowledge regarding the predictors of this response in a population treated with ERT poses a challenge for endpoint development for evaluation of a next-generation therapy. An analysis of the available retrospective data regarding the effects of ERT on changes in key functional endpoints over several years provides critical data with which to generate sample and effect sizes for a study evaluating a new therapy. Developing these insights also will facilitate the development of an appropriate study design to evaluate the impact of new therapies in LOPD.
This study will also quantify the magnitude of response to ERT and thus delineate the course of progression, improvement and/or stabilization in the treated LOPD population.
Medical charts for approximately 75 to 125 ambulatory and non-ambulatory LOPD patients, male and female between 3 and 75 years old, who have been on ERT treatment for at least 2 years will be reviewed retrospectively at global centers of Pompe disease evaluation and treatment. The elements of interest will be collected from investigators’ medical records and/or query of an existing database. Patients or legally authorized representative must provide signed, informed consent/assent authorizing data collection prior to the review of any medical records.REC name
East Midlands - Leicester South Research Ethics Committee
REC reference
18/EM/0082
Date of REC Opinion
5 Apr 2018
REC opinion
Further Information Favourable Opinion