Protocolised follow-up of Pompe patients receiving enzyme replacement therapy on a compassionate use basis

Not Applicable

Recruiting

• Conditions: Pompe Disease; Nutritional, Metabolic, Endocrine; Glycogen storage disease

• Registration Number: ISRCTN72578000
• Lead Sponsor: Erasmus Medical Centre (Netherlands)

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2007-02-23
• Last Update Posted: 17 October 2016

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 12

Inclusion Criteria

1. Confirmed diagnosis of Pompe Disease
2. Infantile-onset:
2.1. Age less than one year
2.2. Delayed motor milestones, and/or
2.3. Hypertrophic cardiomyopathy
3. Late-onset:
3.1. 24 hour/day artificial ventilation
3.2. Wheelchair bound
3.3. Previously enrolled in AGLU 1202 study

Exclusion Criteria

1. Infantile-onset:
1.1. congenital abnormalities
1.2. allergy to food and/or proteins
1.3. ventilator dependency
2. Late-onset:
2.1. developmental delays not explained by Pompe's Disease
2.2. allergies
2.3. severe co-morbidity

Study & Design

• Study Type: Observational
• Study Design: Not specified