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

NCT ID: NCT04942912

Last Updated: 2021-07-07

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 10 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-04-01
• Study Completion Date: 2021-07-30

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.

Conditions

Pompe's Disease Juvenile Onset

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: RETROSPECTIVE

Study Groups

French patients with juvenile Pompe disease

We aim to include all French patients with juvenile Pompe disease (maltase acid deficiency without cardiomyopathy)

No interventions assigned to this group

Eligibility Criteria

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

• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Central Hospital, Nancy, France

OTHER

Sponsor Role: lead

Responsible Party

FEILLET François

Professor

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

François FEILLET, MD, PHD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital - CHRU de Nancy, France

Locations

Children's Hospital - CHRU de Nancy

Nancy, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Qiaoyan HUANG, Resident

Role: CONTACT

Q.HUANG2@chru-nancy.fr

+33 383154541

Facility Contacts

PERRETON, secretary

Role: primary

+33 383154615

Other Identifiers

2020PI280

Identifier Type: -

Identifier Source: org_study_id