A Study in Subjects With LOPD Who Are Currently Being Treated With ERT

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03347253
Recruitment Status : Recruiting
First Posted : November 20, 2017
Last Update Posted : May 1, 2018
Information provided by (Responsible Party):
Amicus Therapeutics

Brief Summary:
The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in late-onset Pompe disease (LOPD) subjects receiving standard-of-care enzyme replacement therapy (ERT). Additionally, information gained may be used in the design and conduct of future studies in LOPD subjects.

Condition or disease
Late-onset Pompe Disease

Detailed Description:
The objective of this study is to evaluate the baseline characteristics and degree of change over time in clinical outcome measures commonly used to evaluate patients with LOPD.

Study Type : Observational
Estimated Enrollment : 125 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Prospective Non-interventional Study in Subjects With Late Onset Pompe Disease Who Are Currently Being Treated With Enzyme Replacement Therapy
Actual Study Start Date : December 8, 2017
Estimated Primary Completion Date : March 2019
Estimated Study Completion Date : August 2019

Primary Outcome Measures :
  1. Evaluate degree of change in muscle function and respiratory endpoints over time [ Time Frame: 7-15 month ]
    To evaluate the degree of change in muscle function and respiratory endpoints over time in patients with Late Onset Pompe disease

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 75 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
LOPD patients between the age of 18 to 75 years, male and female.

Inclusion Criteria:

  1. Subject has a diagnosis of Pompe disease based on documented deficiency of GAA activity and a documented GAA mutation.
  2. Male and female subjects between 7 years and 75 years, inclusive.
  3. Subject must be currently receiving standard-of-care ERT (alglucosidase alfa) at a dose of 20 mg/kg dose every other week.
  4. Subject must have been on ERT for the preceding 2 years or more.
  5. Subject must have an upright FVC that is within 33 to 80% of predicted normal, based on the higher of the screening or baseline value.
  6. Subject is able to walk at least 200 m in the 6MWT.

Exclusion Criteria:

  1. Subject has received any investigational therapy or pharmacological treatment for Pompe disease, other than alglucosidase alfa within 30 days prior to the Baseline Visit or is anticipated to do so during the course of the study
  2. Subject is on any of the following prohibited medications within 30 days of baseline:

    • miglitol (eg, Glyset)
    • miglustat (eg, Zavesca)
    • acarbose (eg, Precose, Glucobay)
    • voglibose (eg, Volix, Vocarb, Volibo)
  3. Subject requires use of invasive or non-invasive ventilatory support for > 6 hours a day while awake.
  4. Subject has a medical or any other extenuating condition or circumstance that may, in the opinion of the investigator, pose an undue safety risk to the subject or compromise his/her ability to comply with protocol requirements.
  5. Subject is pregnant.

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 identifier (NCT number): NCT03347253

United States, California
Investigational Site Number 2030 Recruiting
Irvine, California, United States, 92868
Contact: Marie Wencel    714-456-2525   
United States, Georgia
Investigational Site 2016 Recruiting
Decatur, Georgia, United States, 30033
Contact: Val Long    404-778-8618   
United States, Kansas
Investigational Site 2037 Recruiting
Kansas City, Kansas, United States, 66160
Contact: Andrew Heim    913-945-9926   
United States, North Carolina
Investigational site 2029 Recruiting
Durham, North Carolina, United States, 27710
Contact: Ela Stefanescu    919-681-4026   
United States, Oregon
Investigational Site 2047 Recruiting
Portland, Oregon, United States, 97239
Contact: Diana Dimitrova    503-494-7269   
United States, Pennsylvania
Investigational Site 2045 Recruiting
Hershey, Pennsylvania, United States, 17033
Contact: Matt Bankert    717-531-0003 ext 323351   
Investigational Site 2036 Recruiting
Pittsburgh, Pennsylvania, United States, 15261
Contact: Gabriela Niizawa    412-383-9775   
Sponsors and Collaborators
Amicus Therapeutics

Responsible Party: Amicus Therapeutics Identifier: NCT03347253     History of Changes
Other Study ID Numbers: POM-003
First Posted: November 20, 2017    Key Record Dates
Last Update Posted: May 1, 2018
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Not available.

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No

Additional relevant MeSH terms:
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
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases