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

NCT04942912 | Unknown

• 1 other identifier: 2020PI280
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

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.

Conditions

Pompe's Disease Juvenile Onset

Keywords

no cardiomyopathy at diagnosis

Outcome Measures

Primary Outcomes (4)

• 6-min walk test

  Walking distance during 6 minutes

  Day 1

• 6-min walk test

  Walking distance during 6 minutes

  Through study completion, an average of 1 year

• Forced vital capacity

  Evaluation of respiratory function test

  Day 1

• Forced vital capacity

  Evaluation of respiratory function test

  Through study completion, an average of 1 year

Secondary Outcomes (6)

• Blood creatinine kinase level

  Day 1

• Blood creatinine kinase level

  Through study completion, an average of 1 year

• ASAT

  Day 1

• ASAT

  Through study completion, an average of 1 year

• ALAT

  Day 1

Study Arms (1)

French patients with juvenile Pompe disease

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

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study includes the patients who have Pompe disease documented by deficient alpha-glucosidase activity and/or DNA analysis and follow-up in the French referral centers. These patients must be younger than 18 years at diagnosis and not have the infantile form of Pompe disease. The children who have cardiomyopathy at diagnosis are excluded in order to take only juvenile form.

You may qualify if:

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

You may not qualify if:

• infantile Pompe disease
• cardiomyopathy at diagnosis

Sponsors & Collaborators

• Central Hospital, Nancy, France: lead

Study Sites (1)

Children's Hospital - CHRU de Nancy

Nancy, 54000, France

RECRUITING

Study Officials

• François FEILLET, MD, PHD

  Children's Hospital - CHRU de Nancy, France

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Qiaoyan HUANG, Resident

CONTACT

+33 383154541; Q.HUANG2@chru-nancy.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: April 17, 2021
• First Posted: June 29, 2021
• Study Start: April 1, 2021
• Primary Completion: June 30, 2021
• Study Completion: July 30, 2021
• Last Updated: July 7, 2021

Record last verified: 2021-07

Locations

FR (1)