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Trial record 17 of 103 for:    Pompe Disease

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

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ClinicalTrials.gov Identifier: NCT02824068
Recruitment Status : Enrolling by invitation
First Posted : July 6, 2016
Last Update Posted : February 28, 2019
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Prof. Dr. Benedikt Schoser, Klinikum der Universitaet Muenchen

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.

Condition or disease Intervention/treatment
Pompe Disease 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.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Case-Control
Time Perspective: Retrospective
Official Title: Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months
Actual Study Start Date : June 2016
Estimated Primary Completion Date : June 2019
Estimated Study Completion Date : March 2020



Intervention Details:
  • Drug: glucosidase alfa
    Long-term use in an observational study of licenced drug
    Other Name: Myozyme


Primary Outcome Measures :
  1. change in muscle function [ Time Frame: 12 months ]
    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


Secondary Outcome Measures :
  1. data collection on survival, death and reason of deaths [ Time Frame: 12 months ]
    data collection on survival, death and reason of deaths during the full study period

  2. changes in forced vital capacity (FVC) [ Time Frame: 12 months ]
    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

  3. changes in minimal inspiratory pressure (MIP) [ Time Frame: 12 months ]
    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

  4. changes in maximal expiratory pressure (MEP) [ Time Frame: 12 months ]
    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

  5. changes in loss of ambulation [ Time Frame: 12 months ]
    % of patients with loss of ambulation at 12 months of the study

  6. changes in Medical Research Council (MRC) Scale for Muscle Strength [ Time Frame: 12 months ]
    % of patients with changes in 5-point MRC (scale data at 12 months of the study


Biospecimen Retention:   Samples With DNA
Blood and urine samples to be collected for exploratory research, Genetic/Genomic testing is optional requiring specific consent


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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Late-onset Pompe patients, aged over 8 years with at least 36 months of glucosiase alfa treatment
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02824068


Locations
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Argentina
Instituto de Neurociencias - Fundacion Favaloro
Buenos Aires, Argentina, 1078
Brazil
Centro de Genetica Medica, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ,
Rio de Janeiro, Brazil
Germany
Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Munich, Bavaria, Germany, 80336
Italy
5. Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Italy
Messina, Sicily, Italy, 98125
Taiwan
National Taiwan University Hospital Taipei
Taipei, Taiwan
Sponsors and Collaborators
Klinikum der Universitaet Muenchen
Genzyme, a Sanofi Company
Investigators
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Principal Investigator: Benedikt Schoser, MD Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany

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Responsible Party: Prof. Dr. Benedikt Schoser, Head of the interdisciplinar neuromuscular unit, Klinikum der Universitaet Muenchen
ClinicalTrials.gov Identifier: NCT02824068     History of Changes
Other Study ID Numbers: Po001-ATBIG
First Posted: July 6, 2016    Key Record Dates
Last Update Posted: February 28, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Patients have the right to get their own data set after the end of the study
Supporting Materials: Study Protocol
Informed Consent Form (ICF)
Clinical Study Report (CSR)

Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors