Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen

Study on Efficacy and Safety of Investigational Treatment for Late Onset Pompe Disease

Not Recruiting
3 years or above
All
Phase 4
41 participants needed

Study Overview

Primary Objective:

To evaluate the effect of one-year Alglucosidase alfa treatment on motor function [Six-minute walk test (6MWT) and lung function predicted Forced vital capacity (FVC)] among Chinese Late Onset Pompe Disease patients above 5 years old.

To evaluate the safety of Myozyme 20mg/kg, IV biweekly in Chinese LOPD patients above 3 years old.

Secondary Objective:

To evaluate the effect of one-year treatment with Alglucosidase alfa on improvement of manual muscle test (MMT), Maximal inspiratory and expiratory pressure (MIP and MEP)], Quick Motor Function Test scores, and health-related quality of life (SF-12) among LOPD patients over 5 years old.

Study Details

Study duration per participants is approximatively 56 weeks including a 52-week treatment period.

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Pompe's Disease
  • Age: 3 years or above
  • Gender: All

Inclusion criteria :

  • Patients (or and patient's legal guardian) must provide written informed consent prior to any study-related procedures
  • The patient must be ≥ 3 years of age at the time of enrollment.
    1. For patient ≥ 3-year and < 5-year old: must be able to walk 10 meters or climb 4-step stairs independently.
    2. For patients ≥5-year old
    3. Must be able to ambulate 40 meters in 6 minutes without assistance ii. Must be able to successfully perform repeated forced vital capacity (VC) measurements in upright position of ≥ 30% predicted and ≤85% predicted.
  • The patient has confirmed Pompe's Disease with at least 2 of the following

    condition,

    1. GAA enzyme deficiency from any tissue source.
    2. 2 confirmed GAA gene mutations.
    3. muscle pathology meet the diagnosis of Pompe disease.
  • The patient (and patient's legal guardian if patient is legally minor as defined by

    local regulation) must have the ability to comply with the clinical protocol.

  • The patient, if female and of childbearing potential, must have a negative pregnancy test (beta-human chorionic gonadotropin) at baseline.

Exclusion criteria:

  • Use of invasive ventilatory support (Invasive ventilation is defined as any form of ventilatory support applied with the use of an endotracheal tube.)
  • Use of non-invasive ventilatory support while awake and in an upright position. (Non-invasive ventilation is defined as any form of ventilatory support applied without the use of an endotracheal tube.)
  • Previously treated with Enzyme Replacement Treatment.
  • A Female patient of childbearing potential with a positive pregnancy test.
  • Wheelchair dependent.
  • The patient has a major congenital anomaly.
  • The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance, in the opinion of the Investigator, may significantly interfere with study compliance, including all prescribed evaluations and follow-up activities.
  • The patients with ≥5-year old are unable to ambulate 40 meters without assistance or unable to successfully perform repeated FVC of >30% and <85% predicted (upright).

The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.

This study investigates the effects of an investigational treatment on motor and lung function in Chinese patients with Late Onset Pompe Disease (LOPD). The purpose of this study is to evaluate how a one-year treatment impacts the ability to walk and breathe, using tests like the Six-minute Walk Test (6MWT) and Forced Vital Capacity (FVC).

Participants will undergo various evaluations, including manual muscle tests and assessments of respiratory pressures. The study will also measure health-related quality of life using the SF-12 survey. Participants will receive the investigational treatment intravenously every two weeks, and their progress will be monitored closely to ensure safety and effectiveness.

  • Who can participate: Participants must be 3 years or older with confirmed Pompe Disease and specific genetic or enzyme markers. They must walk certain distances or perform specific tests based on age. Pregnant females or those using ventilatory support are excluded.
  • Study details: Participants will receive the investigational treatment intravenously every two weeks and undergo regular assessments of muscle and lung function. A placebo will not be used in this study.
  • Study timelines: The study will last 56 weeks.
Updated on 25 Mar 2025. Study ID: NCT04676373