A study to evaluate changes in function such as walking and/or breathing in subjects taking enzyme replacement therapy (ERT) for late-onset Pompe disease

Phase 1

Conditions: ate-onset Pompe disease (LOPD) in subjects receiving standard-of-care enzyme replacement therapy (ERT)
MedDRA version: 20.0Level: LLTClassification code 10075702Term: Pompe's disease late onsetSystem Organ Class: 100000004850
Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

Registration Number: EUCTR2017-004370-34-BE

Lead Sponsor: Amicus Therapeutics, Inc.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 125

Inclusion Criteria

1. Subject has a diagnosis of Pompe disease based on documented deficiency of acid a-glucosidase (GAA) activity and a documented GAA mutation(s) (the gene that encodes GAA).
2. Male and female subjects between 18 years and 75 years, inclusive and >= 50 kg.
3. Subject or legally authorized representative must provide signed informed consent (and assent, if applicable) prior to performing any study-related procedures.
4. Subject must be currently receiving standard-of-care ERT (alglucosidase alfa) at the recommended dose (approximately 20 mg/kg dose) every other week and for the past 2 years or more.
5. Subject must be able to perform pulmonary testing and muscle function testing in a seated position.
6. Subjects must have an upright forced vital capacity (FVC) within 35 to 90% of predicted normal (NHANES III reference values), based on the higher of the screening or baseline value, if their 6-minute walk distance (6MWD) is > 200 m. Subject must have an upright FVC within 40 to 90% of predicted normal (NHANES III reference values), based on the higher of the screening or baseline value, if their 6MWD is
= 200 m. If FVC is between 80 and 90% of predicted normal, the subject may enter the
study if the percent predicted FVC value drops by 10% predicted or more in supine position.
7. Subject is able to walk at least 100 m in the 6MWT and the assessment is noted as valid.
Are the trial subjects under 18? no
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 90
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 35

Exclusion Criteria

1. Subject has received any investigational therapy or pharmacological treatment for Pompe disease, other than alglucosidase alfa, within 30 days or 5 half lives, whichever is shorter, 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 or 5 half lives, whichever is shorter, prior to baseline, or is anticipated to do so during the course of the study:
• 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. This includes clinical depression
(as diagnosed by a psychiatrist or other mental health professional) with uncontrolled
or poorly controlled symptoms.
5. Subject is breastfeeding, or is pregnant or planning to become pregnant within the next
2 years.
6. Other exclusion criteria according to the Lumizyme/Myozyme instructions for use.

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in adult subjects with late-onset Pompe disease (LOPD) 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;Secondary Objective: Not Applicable;Primary end point(s): Evaluation of changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in adult late-onset Pompe disease (LOPD) subjects receiving standard-of-care enzyme replacement therapy (ERT). ;Timepoint(s) of evaluation of this end point: Parameters throughout the study. Historical data for these parameters will also be collected.

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): Gained information gained may be used in the design and conduct of future studies in LOPD subjects. ;Timepoint(s) of evaluation of this end point: Parameters throughout the study. Historical data for these parameters will also be collected.

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