NCT00231400

Pompe Disease Registry Protocol

Recruiting now Last updated 9 April 2026

What this trial tests

trial in Glycogen Storage Disease Type II in 2,000 participants. Currently enrolling.

Timeline

15 September 2004

Primary endpoint
31 January 2034

31 January 2034

Quick facts

Lead sponsor	Genzyme, a Sanofi Company
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	2,000
Start date	15 September 2004
Primary completion	31 January 2034
Estimated completion	31 January 2034
Sites	271 locations across Hong Kong, Colombia, Italy, Japan, Jordan, Malaysia, Taiwan, Vietnam

Conditions studied

• Glycogen Storage Disease Type II — all drugs for Glycogen Storage Disease Type II →
• Pompe Disease — all drugs for Pompe Disease →

Sponsor

Genzyme, a Sanofi Company — full company profile →

Who can join

Eligibility, any sex, with Glycogen Storage Disease Type II or Pompe Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
   Scalco RS, Lucia A, Santalla A, Martinuzzi A, et al · · 2020 · cited 30× · PMID 33234167 · DOI 10.1186/s13023-020-01562-x
2. Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
   Stockton DW, Kishnani P, van der Ploeg A, Llerena J, et al · · 2020 · cited 27× · PMID 32524257 · DOI 10.1007/s00415-020-09936-8
3. Characteristics of Pompe disease in China: a report from the Pompe registry.
   Zhao Y, Wang Z, Lu J, Gu X, et al · · 2019 · cited 18× · PMID 30943998 · DOI 10.1186/s13023-019-1054-0
4. Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.
   Mistry PK, Kishnani P, Wanner C, Dong D, et al · · 2022 · cited 17× · PMID 36244992 · DOI 10.1186/s13023-022-02517-0
5. Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
   Kishnani PS, Kronn D, Suwazono S, Broomfield A, et al · · 2023 · cited 12× · PMID 38057861 · DOI 10.1186/s13023-023-02981-2
6. Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
   Berger KI, Chien YH, Dubrovsky A, Kishnani PS, et al · · 2024 · cited 9× · PMID 38896264 · DOI 10.1007/s00415-024-12489-9
7. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
   Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, et al · · 2020 · cited 7× · PMID 33054807 · DOI 10.1186/s13023-020-01455-z
8. Protecting essential information about genetic variants as trade secrets: a problem for public policy?
   Juergens AK, Francis LP. · · 2018 · cited 3× · PMID 31143458 · DOI 10.1093/jlb/lsz004