eoGAA Extension Study

Conditions: Pompe disease (acid alpha-glucosidase deficiency)
MedDRA version: 18.0Level: LLTClassification code 10036143Term: Pompe's diseaseSystem Organ Class: 100000004850
Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

Registration Number: EUCTR2013-003321-28-FR

Lead Sponsor: Genzyme Corporation

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: All

Target Recruitment: 18

Inclusion Criteria

Patients with Pompe disease who previously completed a neoGAA study.
The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if <18 years of age, is willing to provide assent if deemed able to do so.
The patient (and patient’s legal guardian if patient is <18 years of age) must have the ability to comply with the clinical protocol.
The patient, if female and of childbearing potential, must have a negative pregnancy test [urine beta-human chorionic gonadotropin] at baseline

Are the trial subjects under 18? no
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 16
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 2

Exclusion Criteria

The patient is concurrently participating in another clinical study using investigational treatment.
The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.
The patient has clinically significant organic disease (with the exception of symptoms relating to Pompe disease), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the Investigator, precludes participation in the study or potentially decreases survival.

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: Long-term safety and pharmacokinetics (PK) of neoGAA;Secondary Objective: Long-term effect of neo-GAA on pharmacodynamic and exploratory efficacy variables ;Primary end point(s): Assessment of adverse events (AEs) and treatment-emergent adverse events (TEAEs)<br>Laboratory assessments including hematology, biochemistry and urinalysis<br>Vital signs;Timepoint(s) of evaluation of this end point: Assessment of adverse events (AEs) and treatment-emergent adverse events (TEAEs) : screening/baseline until study end<br><br>Laboratory assessments including hematology, biochemistry and urinalysis : Monthly, from baseline until study end<br><br>Vital signs : screening/baseline until study end

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): Electrocardiogram, Immunogenicity assessments<br><br>Cmax, AUC, t1/2<br><br>Skeletal muscle glycogen content, Skeletal muscle magnetic resonance images for qualitative and quantitative muscle degenerative assessments, serum analyses of skeletal muscle RNA expression<br><br>Urinary Hex4, plasma analyses of circulating mRNA and micro RNA;Timepoint(s) of evaluation of this end point: Every 6 months, from baseline until study end :<br>Electrocardiogram, Immunogenicity assessments<br><br>At 6 months, then yearly until study end :<br>Cmax, AUC, t1/2<br><br>Every 2 years, from baseline until study end :<br>Skeletal muscle glycogen content, Skeletal muscle magnetic resonance images for qualitative and quantitative muscle degenerative assessments, serum analyses of skeletal muscle RNA expression<br><br>Every 6 months, from baseline until study end :<br>Urinary Hex4, plasma analyses of circulating mRNA and micro RNA