Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study)

NCT02824068 | Completed

• 1 other identifier: Po001-STIG
• Study Type: observational
• Target: 112
• Locations: 3 countries
• Sites: 3

Brief Summary

Long-term outcome in late-onset Pompe disease treated beyond 36 months (ATBIG-Pompe-Study), a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 8 years old, diagnosed with late-onset Pompe disease retrospectively and prospectively collects data to understand clinical progression in terms of muscle and respiratory function, and clinical symptomology treated with alglucosidase alfa more than 36 months in 100 subjects.

Conditions

Pompe Disease

Outcome Measures

Primary Outcomes (1)

• change in muscle function

  To evaluate the degree of change in muscle function over time in patients with Pompe disease. % change in the 6-minute walking test (normal 600m in six minutes) between 0, 6 and 12 months of the study

  12 months

Secondary Outcomes (6)

• data collection on survival, death and reason of deaths

  12 months

• changes in forced vital capacity (FVC)

  12 months

• changes in minimal inspiratory pressure (MIP)

  12 months

• changes in maximal expiratory pressure (MEP)

  12 months

• changes in loss of ambulation

  12 months

Interventions

glucosidase alfa DRUG

Long-term use in an observational study of licenced drug

Also known as: Myozyme

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Late-onset Pompe patients, aged over 8 years with at least 36 months of glucosiase alfa treatment

You may qualify if:

• Late-onset Pompe patients, aged over 8 years.
• The patient is willing and able to provide signed informed consent.
• The patient (and patient's legal guardian if patient is under 18 years of age) must have the ability to comply with the clinical protocol.
• Long-term Myozyme treatment beyond 36 months.
• Known GAA genotype.
• GAA activity (Dried blood spot testing, or other methods).

You may not qualify if:

• \- The patient is concurrently participating in another clinical study using Myozyme or other 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.

Sponsors & Collaborators

• LMU Klinikum: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (3)

Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

Munich, Bavaria, 80336, Germany

Location

5. Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Italy

Messina, Sicily, 98125, Italy

Location

National Taiwan University Hospital Taipei

Taipei, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood and urine samples to be collected for exploratory research, Genetic/Genomic testing is optional requiring specific consent

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Benedikt Schoser, MD

  Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of the interdisciplinar neuromuscular unit

Study Record Dates

• First Submitted: June 20, 2016
• First Posted: July 6, 2016
• Study Start: June 1, 2016
• Primary Completion: December 31, 2019
• Study Completion: December 31, 2020
• Last Updated: February 10, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF, CSR
• Time Frame: open access via the publication given link below
• Access Criteria: open access

Locations

DE (1); TW (1); IT (1)