Pompe Disease Registry Protocol

NCT00231400 · tracked via the Priya Life Science UK tracker

Sponsor

Genzyme, a Sanofi Company

Phase

Observational

Started

2004-09-15

Last updated

2026-06-23

Condition(s) studied

Glycogen Storage Disease Type IIPompe Disease

Study summary

The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes.

The objectives of the Registry are:

* To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention.
* To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.
* To characterize the Pompe disease population.
* To evaluate the long-term effectiveness of alglucosidase alfa.

Eligibility

Sex

ALL

Min age

—

Max age

—

Healthy volunteers

Inclusion Criteria: All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations. Exclusion Criteria: There are no exclusion criteria in this Registry

Primary outcome measure(s)

Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease — maximum 30 years

Trial sites (272)

Facility	City	Region	Status
University of Alabama at Birmingham- Site Number : 840106	Birmingham	Alabama	Recruiting
Barrow Neurological Institute- Site Number : 840087	Phoenix	Arizona	Recruiting
Phoenix Children's Hospital- Site Number : 840003	Phoenix	Arizona	Recruiting
University of Arizona- Site Number : 840015	Tucson	Arizona	Recruiting
Arkansas Children's Hospital- Site Number : 840109	Little Rock	Arkansas	Recruiting
University of Arkansas for Medical Sciences- Site Number : 840113	Little Rock	Arkansas	Recruiting
University of California at Irvine- Site Number : 840036	Irvine	California	Recruiting
Loma Linda University- Genetics- Site Number : 840070	Loma Linda	California	Completed
Southern California Permanente Medical Group- Site Number : 840108	Los Angeles	California	Recruiting
USC Health Sciences Center Dept of Genetics- Site Number : 840082	Los Angeles	California	Completed
UCSF Benioff Children's Hospital - Oakland- Site Number : 840029	Oakland	California	Completed
Children's Hospital of Orange County- Site Number : 840074	Orange	California	Recruiting
UC Davis MIND Institute- Site Number : 840010	Sacramento	California	Recruiting
University of California at San Diego- Site Number : 840007	San Diego	California	Completed
University of California San Francisco - Parnassus Campus- Site Number : 840051	San Francisco	California	Recruiting
Stanford University Pediatrics- Site Number : 840021	Stanford	California	Recruiting
Children's Hospital Colorado - Aurora- Site Number : 840069	Aurora	Colorado	Completed
Yale University School of Medicine- Site Number : 840047	New Haven	Connecticut	Recruiting
Children's National Medical Center - Washington- Site Number : 840067	Washington D.C.	District of Columbia	Recruiting
University of Miami- Site Number : 840006	Coral Gables	Florida	Recruiting
University of Florida College of Medicine- Site Number : 840012	Gainesville	Florida	Recruiting
University of Florida Pediatrics Genetics- Site Number : 840121	Jacksonville	Florida	Recruiting
University of Florida-Genetics- Site Number : 840096	Tampa	Florida	Recruiting
Emory University School of Medicine- Human Genetics- Site Number : 840060	Decatur	Georgia	Recruiting
University of Colorado at Denver Genetics- Site Number : 840068	Aurora	Illinois	Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011	Chicago	Illinois	Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013	Chicago	Illinois	Recruiting
Rush University Medical Center Genetics- Site Number : 840079	Chicago	Illinois	Recruiting
Indianapolis University School of Medicine- Site Number : 840027	Indianapolis	Indiana	Recruiting
University of Iowa- Site Number : 840032	Iowa City	Iowa	Recruiting
University of Kansas Medical Center- Site Number : 840020	Kansas City	Kansas	Recruiting
University of Louisville - Health Sciences Center- Site Number : 840030	Louisville	Kentucky	Completed
Maine Medical Partners Pediatric Specialty Care- Site Number : 840064	Portland	Maine	Recruiting
John Hopkins- Site Number : 840044	Baltimore	Maryland	Completed
Massachusetts General Hospital-Genetics- Site Number : 840062	Boston	Massachusetts	Recruiting
Boston Children's Hospital- Site Number : 840092	Boston	Massachusetts	Recruiting
Baystate Medical Center- Site Number : 840002	Springfield	Massachusetts	Recruiting
University of Michigan Pediatrics- Site Number : 840107	Ann Arbor	Michigan	Recruiting
Children's Hospital of Michigan- Site Number : 840066	Detroit	Michigan	Recruiting
Corewell Health - Helen DeVos Children's Hospital (HDVCH)- Site Number : 840019	Grand Rapids	Michigan	Completed

+ 232 more sites — see the full list on the official registry below.

More Genzyme, a Sanofi Company trials in the UK

Fabry Disease Registry & Pregnancy Sub-registry Recruiting

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension Active, not recruiting

A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa Active, not recruiting

International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry Recruiting

Pompe Pregnancy Sub-Registry Recruiting

Other trials for the same condition

Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD) Recruiting

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa Active, not recruiting

A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Active, not recruiting

A Global Prospective Observational Registry of Patients With Pompe Disease Recruiting

A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD) Active, not recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT00231400 on ClinicalTrials.gov ↗ ← All trials in the UK