Pompe Disease Registry. An observational program for patients with Pompe disease that was designed to track the natural history and outcomes of patients.

• Register: CTRI
• Last refreshed on: 24 November 2021
• Main ID: CTRI/2018/03/012267
• Date of registration: 01-03-2018
• Prospective Registration: Yes
• Primary sponsor: Sanofi Synthelabo India Private Limited
• Public title: Pompe Disease Registry. An observational program for patients with Pompe disease that was designed to track the natural history and outcomes of patients.
• Scientific title: Genzyme Rare disease registries (Pompe Disease Registry Protocol)
• Date of first enrolment: 05-03-2018
• Target sample size: 1302
• Recruitment status: Not Yet Recruiting
• URL: http://www.ctri.nic.in/Clinicaltrials/pmaindet2.php?trialid=19576
• Study type: Observational
• Study design: Other; Method of generating randomization sequence:Not Applicable Method of allocation concealment:Not Applicable Blinding and masking:Not Applicable
• Phase: N/A

Countries of recruitment

Argentina, Australia, Belgium, Brazil, Canada, China, Denmark, France, Germany, Greece, India, Ireland, Israel, Italy, Japan, Mexico, Netherlands, Norway, Peru, Republic of Korea, Russian Federation, Singapore, Spain, Taiwan, Turkey, United Kingdom, United States of America

Contacts

• Name: Ms Salini James
• Affiliation: Sanofi Genzyme India

• Name: Dr Ravinder Makkar
• Affiliation: Sanofi Genzyme India

Key inclusion & exclusion criteria

Inclusion criteria: 1.All age group from new born to old age allowed.

2. All patients with a confirmed diagnosis of Pompe disease who are willing and able to provide written informed consent and any additional authorization documents required by local law to send health information to the Registry are eligible for inclusion, regardless of whether they are receiving disease therapy including ERT (such as alglucosidase alfa) and irrespective of the commercial product with which they are being treated.

3. A confirmed diagnosis is defined as documented acid α-glucosidase (GAA) enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.
Exclusion criteria: No Exclusion Criteria

Age minimum:
Age maximum:
Gender:

Health Condition(s) or Problem(s) studied

Health Condition 1: E740- Glycogen storage disease Health Condition 2: null- Pompe Disease

Primary Outcome(s)

- Enhance the understanding of the variability, progression, identification, and natural history of the manifestations of Pompe disease;

- Assist the Pompe medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;

- Characterize and describe the Pompe disease population as a whole.

Timepoint: 15 years

Secondary Outcome(s)

No secondary outcome. Its a disease registry.Timepoint: NA

Secondary ID(s)

NCT00231400

DIREGC07005, Amendment 7: 09 July 2014

Source(s) of Monetary Support

Genzyme Europe B.V., Gooimeer 10, 1411 DD Naarden, the Netherlands (â??Genzymeâ??)

Ethics review

Status: Approved
Approval date: 18/12/2017
Contact:

Institutional Ethics Committee, Institute of Child Health

Status: Not Approved
Approval date:
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Ethics Committee, Rainbow Childrenâ??s Medicare Pvt. Ltd., Hyderabad

Status: Not Approved
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Human Ethics Committee, Government Medical College, Thiruvananthapuram

Status: Not Approved
Approval date:
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Independent Ethics committee Fetal care Research foundation

Status: Not Approved
Approval date:
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Institutional Ethics Committee , Amrita Institute of medical Sciences and Research Centre Ponekkara

Status: Not Approved
Approval date:
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Institutional Ethics committee, Christian Medical College and Hospital

Status: Not Approved
Approval date:
Contact:

Sir Ganga Ram Hospital Ethics Committee