Combined enzyme enhancement therapy (EET) and enzyme replacement therapy (ERT) in patients with Pompe disease - ND

• Conditions: Patients with Pompe Disease (Type II Glycogenosis) on therapy with Enzyme Replacement Therapy (ERT) for at least 6 months; MedDRA version: 13.1Level: LLTClassification code 10036143Term: Pompe's diseaseSystem Organ Class: 10010331 - Congenital, familial and genetic disorders

• Registration Number: EUCTR2010-024647-32-IT
• Lead Sponsor: IVERSITA` DEGLI STUDI DI NAPOLI FEDERICO II

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2011-05-09
• Last Update Posted: 19 March 2012

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

-The patient and / or parents / legal tutors signed informed consent -Patients of both sex younger than 65 years - The patient has a diagnosis of Pompe Disease confirmed by analysis of acid a-glucosidase enzyme activity (determined on leukocytes, muscle, or fibroblasts) and molecular analysis of the GAA gene. - The patient is on enzyme replacement therapy (ERT) for at least 6 months -Fertile female with negative BhCG -Use of contraception in fertile male patients until 3 months after the last administration of investigational drug
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

- The patient has major congenital anomalies - The patient has comorbidities (excluding symptoms related to Pompe disease) involving organs and systems, which in the opinion of the investigator would preclude their inclusion in the study and potentially reduce their survival -Female patients during pregnancy -Non compliant patients

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: Evaluation of efficacy of therapy with Miglustat in co-administration with ERT considering: increase in the peak of activity of acid glucosidase (GAA) e/o slowing of the decline of levels of activity of GAA; decrease in serum levels of CPK;Secondary Objective: -Evaluation of stabilization and/or improvement in muscular efficiency -Evaluation of safety of Miglustat in patients with Pompe disease in co-administration with ERT;Primary end point(s): -Increase in the peak of activity of GAA and / or slowing of the decline in levels of activity of GAA -reduction in serum CPK