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

Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months

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.

Study Overview

• Status: Completed
• Conditions: Pompe Disease
• Intervention / Treatment: Drug: glucosidase alfa

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.

• Study Type: Observational
• Enrollment (Actual): 112

Contacts and Locations

Study Locations

• Germany
  • Bavaria
    • Munich, Bavaria, Germany, 80336
      • Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
• Italy
  • Sicily
    • Messina, Sicily, Italy, 98125
      • 5. Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Italy
• Taiwan
  • Taipei, Taiwan
    • National Taiwan University Hospital Taipei

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

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

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
data collection on survival, death and reason of deaths	data collection on survival, death and reason of deaths during the full study period	12 months
changes in forced vital capacity (FVC)	To evaluate the degree of change in lung function over time in patients with Pompe disease by % change of FVC in sitting and supine body position between 0, 6, and 12 months of the study	12 months
changes in minimal inspiratory pressure (MIP)	To evaluate the degree of change in lung function over time in patients with Pompe disease: % change in minimal inspiratory pressure between 0, 6 and 12months of the study	12 months
changes in maximal expiratory pressure (MEP)	To evaluate the degree of change in lung function over time in patients with Pompe disease % change in maximal expiratory pressure between 0, 6 and 12months of the study	12 months
changes in loss of ambulation	% of patients with loss of ambulation at 12 months of the study	12 months
changes in Medical Research Council (MRC) Scale for Muscle Strength	% of patients with changes in 5-point MRC (scale data at 12 months of the study	12 months

Collaborators and Investigators

• Sponsor: LMU Klinikum
• Collaborators: Genzyme, a Sanofi Company
• Investigators: Principal Investigator: Benedikt Schoser, MD, Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2016
• Primary Completion (Actual): December 31, 2019
• Study Completion (Actual): December 31, 2020

Study Registration Dates

• First Submitted: June 20, 2016
• First Submitted That Met QC Criteria: July 5, 2016
• First Posted (Estimate): July 6, 2016

Study Record Updates

• Last Update Posted (Actual): February 10, 2021
• Last Update Submitted That Met QC Criteria: February 5, 2021
• Last Verified: February 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: Po001-STIG

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Patients have the right to get their own data set after the end of the study
• IPD Sharing Time Frame: open access via the publication given link below
• IPD Sharing Access Criteria: open access
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF; CSR

Study Data/Documents

1. Clinical Study Report
   Information comments: Open access of the full study report can be downloaded under above webpage of the Journal of Neurology