Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease

• Conditions: Pompe's Disease Juvenile Onset

• Registration Number: NCT04942912
• Lead Sponsor: Central Hospital, Nancy, France

Brief Summary

Pompe disease is known as glycogen storage disease type II, an autosomal recessive disease that results from acid alpha-glucosidase (GAA) deficiency leading to lysosomal glycogen accumulation. Patients with classic infantile form have less than 1% of enzyme activity, which explains severe impairment before one year with rapid death without treatment, while later-onset form shows progressive symptoms later in childhood (juvenile form) or adulthood (adult form).

Enzyme replacement therapy (ERT) consists of periodic intravenous infusion of missing GAA produced by the recombinant method. ERT improves significantly the cardiac function and the children's survival in classic infantile form. This therapy has been approved for all patients with Pompe's disease in the United States and the European Union since 2006, but its efficacy was not clear for patients with later-onset form. Recent studies show motor improvement in adult patients, but there is little published data for the juvenile form disease. A separate analysis of juvenile form is justified as patients are still in a developmental stage and show clinical symptoms early in life, may have more severe disease and a different response to ERT. The recommendation is no treatment in the absence of clinical symptoms, but the consensus does not stratify patients into juvenile- or adult-onset form. ERT is an expensive long-term therapy, and its administration every 2 weeks in the hospital is a great limitation for patients. Therefore, an evaluation of the treatment effect in patients with the juvenile form is necessary.

Detailed Description

This study includes patients from several hospitals in france. The parameters allowing the evaluation of the respiratory and muscular function are collected.

Study Timeline

• Study Start: 2021-04-01
• Study First Submitted: 2021-04-17
• Study First Submitted QC: 2021-06-20
• Study First Posted: 2021-06-29
• Primary Completion: 2021-06-30
• Status Verified: 2021-07
• Last Update Submitted: 2021-07-02
• Last Update Posted: 2021-07-07
• Study Completion: 2021-07-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• childhood Pompe disease (the first symptoms appear before 18 years old)
• follow-up in France

Exclusion Criteria

• infantile Pompe disease
• cardiomyopathy at diagnosis

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
6-min walk test	Through study completion, an average of 1 year	Walking distance during 6 minutes
Forced vital capacity	Through study completion, an average of 1 year	Evaluation of respiratory function test

Secondary Outcome Measures

Name	Time	Method
ASAT	Through study completion, an average of 1 year	Biological markers of tPompe Disease
Blood creatinine kinase level	Through study completion, an average of 1 year	Biological marker of Pompe disease
ALAT	Through study completion, an average of 1 year	Biological markers of tPompe Disease

Trial Locations

Locations (1)

Children's Hospital - CHRU de Nancy; 🇫🇷 Nancy, France