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

NCT ID: NCT02824068

Last Updated: 2021-02-10

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 112 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-06-01
• Study Completion Date: 2020-12-31

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.

Detailed Description

The presentation and course of late-onset Pompe disease is much less foreseeable than the classic infantile form. Some patients experience a rapid worsening in skeletal muscle function leading to loss of ambulation and respiratory failure, while others progress less rapidly. So there is a more inconstant response to treatment in skeletal muscle and lung function in the long-term. Therefore, an unmet clinical need is the collection and analysis of long-term data of rhGAA enzyme replacement therapy (ERT) in late-onset Pompe disease patient aged 8 years and older. The principal goal of our investigator driven study is to gain conclusive insight in long-term outcome data beyond 36 months up to 10 years of ERT treatment. In addition we will collect biological samples from all patients for a future biomarker study including gene modifier search by genome and RNA seq (not part of this proposal). This study may provide clinicians and researchers with a better understanding of late-onset Pompe disease under long-term treatment, to the benefit of all patients affected with late-onset Pompe disease, as well as, individuals and families with related diseases.

Conditions

Pompe Disease

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: RETROSPECTIVE

Interventions

glucosidase alfa

Long-term use in an observational study of licenced drug

Intervention Type: DRUG

Other Intervention Names

Myozyme

Eligibility Criteria

Inclusion Criteria

• 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).

Exclusion Criteria

• - 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.

• Minimum Eligible Age: 8 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: collaborator

LMU Klinikum

OTHER

Sponsor Role: lead

Responsible Party

Prof. Dr. Benedikt Schoser

Head of the interdisciplinar neuromuscular unit

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Benedikt Schoser, MD

Role: PRINCIPAL_INVESTIGATOR

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

Locations

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

Munich, Bavaria, Germany

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

Messina, Sicily, Italy

National Taiwan University Hospital Taipei

Taipei, , Taiwan

Countries

Germany; Italy; Taiwan

Study Documents

Document Type: Clinical Study Report

Open access of the full study report can be downloaded under above webpage of the Journal of Neurology

View Document

Other Identifiers

Po001-STIG

Identifier Type: -

Identifier Source: org_study_id