A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease

October 27, 2016 updated by: BioMarin Pharmaceutical
Study 701-901, a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 18 years old, diagnosed with late-onset Pompe disease prospectively collects data to understand clinical progression in terms of respiratory function, symptomology, genotype, biochemistry, endurance and selected subject-reported measures for 24 weeks followed by a 240 week additional observation period for up to 100 subjects.

Study Overview

Status

Terminated

Conditions

Study Type

Observational

Enrollment (Actual)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Australia
    • New South Wales
      • Westmead, New South Wales, Australia, 2145
        • Westmead Hospital, Dept. of Genetic Medicine
    • South Australia
      • Adelaide, South Australia, Australia, 5006
        • Women's and Children's Hospital
    • Victoria
      • Clayton, Victoria, Australia, 3168
        • Monash Medical Centre
  • Brazil
      • Porto Alegre, Brazil
      • Recife, Brazil
      • Ribeirao Preto, Brazil
  • Canada
    • Alberta
      • Calgary, Alberta, Canada, T3B 6A8
        • Alberta Children's Hospital
  • Greece
      • Alexandroupolis, Greece
      • Athens, Greece
      • Larissa, Greece
      • Thessalonika, Greece
  • Ireland
      • Dublin, Ireland
        • St. Vincent's University Hospital
  • Korea, Republic of
      • Seoul, Korea, Republic of, 110-744
        • Seoul National University Hospital
  • Poland
      • Gdansk, Poland, 80-462
        • Copernicus, St. Adalbert Hospital
      • Krakow, Poland, 31-011
        • Diamond Clinic
      • Warsaw, Poland, 02-957
        • Insitute of Psychiatry and Neurology
  • Romania
      • Constanta, Romania, 900951
        • Spitalul Clinic Judetean de Urgenta "Sf. Apostol Andrei"
  • Serbia
      • Belgrade, Serbia
  • Singapore
      • Singapore, Singapore, 119074
        • National University Hospital
  • Slovenia
      • Ljubljana, Slovenia
  • Spain
      • Barcelona, Spain, 08041
        • Hospital de la Santa Creu i Sant Pau
      • Madrid, Spain, 28007
        • Hospital General Universitario Gregorio Maranon
      • Valencia, Spain, 46026
        • Hospital Universitari i Politecnic La Fe
  • Taiwan
      • Taipei, Taiwan, 10449
        • Mackay Memorial Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Late-onset Pompe Disease patients untreated or treated with rhGAA

Description

Inclusion Criteria:

  • Willing and able to provide written informed consent after the nature of the study has been explained and prior to any study-related procedure
  • Diagnosed with late-onset Pompe disease based on current or previous genomic testing and/or endogenous GAA activity
  • At least 18 years of age at study entry
  • Willing and able to comply with all study procedures

Exclusion Criteria:

  • Requires non-invasive ventilatory support while awake and in the upright position
  • Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise study completion or data collection
  • Unable to perform baseline efficacy assessments

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Observational
No interventions

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
To evaluate the degree of change in respiratory and endurance endpoints over time in patients with Pompe disease
Time Frame: 264 Weeks
264 Weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

BioMarin Pharmaceutical

Investigators

  • Study Director: Medical Monitor, MD, BioMarin Pharmaceutical

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 2014

Primary Completion (Actual)

September 1, 2016

Study Completion (Actual)

September 1, 2016

Study Registration Dates

First Submitted

August 6, 2014

First Submitted That Met QC Criteria

August 19, 2014

First Posted (Estimate)

August 20, 2014

Study Record Updates

Last Update Posted (Estimate)

October 31, 2016

Last Update Submitted That Met QC Criteria

October 27, 2016

Last Verified

September 1, 2015

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 701-901

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Late-onset Pompe Patients Untreated or Treated With rhGAA

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Poland

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe