Patients with Pompe Disease (Type II Glycogenosis) on therapy with Enzyme Replacement Therapy (ERT) for at least 6 months MedDRA version: 13.1 Level: LLT Classification code 10036143 Term: Pompe's disease System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Sponsors
UNIVERSITA` DEGLI STUDI DI NAPOLI FEDERICO II
Eligibility
Sex/Gender
All
Inclusion criteria
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
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 | — |
Countries
Italy
Outcome results
None listed