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Pompe Disease Registry

This is an observational study, called the Pompe Disease Registry, for people with Pompe disease (Glycogen Storage Disease Type II). It's designed to help doctors better understand how Pompe disease changes over time and how it affects patients, whether they are receiving treatment or not. The main goal is to learn more about the different ways Pompe disease shows up, how it progresses, and its natural course over a maximum of 30 years. You can join if you have a confirmed diagnosis of Pompe disease, meaning you have documented GAA enzyme deficiency and/or two GAA gene mutations. There are no other exclusion criteria.

Study design
This is a global, multicenter, international, longitudinal, observational program. It aims to enroll 2000 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for a maximum of 30 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00231400

Pompe Disease Registry Protocol

Recruiting
Not specifiedAll AgesObservational
Genzyme, a Sanofi Company
~2,000 participants
Updated 2026-06-23 on ClinicalTrials.gov

At a glance

Recruiting sites
220 of 272 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
Measured over maximum 30 years

Conditions

Glycogen Storage Disease Type II
Pompe Disease

Explore related trials

Glycogen Storage Disease Type IIGLUCOSIDASE, ALPHA, ACID

NCT00231400

Where you'd take part

This study runs at 272 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011

    Chicago, Illinoisno site contact published

    Recruiting

  • Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013

    Chicago, Illinoisno site contact published

    Recruiting

  • Arkansas Children's Hospital- Site Number : 840109

    Little Rock, Arkansasno site contact published

    Recruiting

  • Atlantic Health System- Site Number : 840099

    Morristown, New Jerseyno site contact published

    Recruiting

  • Barrow Neurological Institute- Site Number : 840087

    Phoenix, Arizonano site contact published

    Recruiting

  • Baylor Institute of Metabolic Disease- Site Number : 840058

    Dallas, Texasno site contact published

    Recruiting

  • Baystate Medical Center- Site Number : 840002

    Springfield, Massachusettsno site contact published

    Recruiting

  • Boston Children's Hospital- Site Number : 840092

    Boston, Massachusettsno site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Study Director · STUDY_DIRECTOR · Genzyme, a Sanofi Company

Who to contact

Trial Transparency email recommended (Toll free number for US & Canada)
[email protected]
800-633-1610 · ext. option 6
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

What this trial measures

  • Understanding of the variability, progression , identification and natural history of the manifestations of Pompe diseasemaximum 30 years