Pompe Disease Registry.An observational program for patients with Pompe disease that was designed to track the natural history and outcomes of patients.
Not Applicable
- Conditions
- Health Condition 1: E740- Glycogen storage diseaseHealth Condition 2: null- Pompe Disease
- Registration Number
- CTRI/2018/03/012267
- Lead Sponsor
- Sanofi Synthelabo India Private Limited
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
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
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method - Enhance the understanding of the variability, progression, identification, and natural history of the manifestations of Pompe disease; <br/ ><br>- Assist the Pompe medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; <br/ ><br>- Characterize and describe the Pompe disease population as a whole. <br/ ><br>Timepoint: 15 years
- Secondary Outcome Measures
Name Time Method o secondary outcome. Its a disease registry.Timepoint: NA