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

Effect of Enzyme Replacement Therapy in Patients With Juvenile-Onset Pompe Disease: a Long-term Observational Study

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.

Study Overview

• Status: Recruiting
• Conditions: Pompe's Disease Juvenile Onset

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 Type: Observational
• Enrollment (Anticipated): 10

Contacts and Locations

• Study Contact: Name: Qiaoyan HUANG, Resident; Phone Number: +33 383154541; Email: Q.HUANG2@chru-nancy.fr

Study Locations

• France
  • Nancy, France, 54000
    • Recruiting
    • Children's Hospital - CHRU de Nancy
    • Contact: PERRETON, secretary; Phone Number: +33 383154615

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Blood creatinine kinase level	Biological marker of Pompe disease	Day 1
Blood creatinine kinase level	Biological marker of Pompe disease	Through study completion, an average of 1 year
ASAT	Biological markers of tPompe Disease	Day 1
ASAT	Biological markers of tPompe Disease	Through study completion, an average of 1 year
ALAT	Biological markers of tPompe Disease	Day 1
ALAT	Biological markers of tPompe Disease	Through study completion, an average of 1 year

Collaborators and Investigators

• Sponsor: Central Hospital, Nancy, France
• Investigators: Principal Investigator: François FEILLET, MD, PHD, Children's Hospital - CHRU de Nancy, France

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2021
• Primary Completion (Actual): June 30, 2021
• Study Completion (Anticipated): July 30, 2021

Study Registration Dates

• First Submitted: April 17, 2021
• First Submitted That Met QC Criteria: June 20, 2021
• First Posted (Actual): June 29, 2021

Study Record Updates

• Last Update Posted (Actual): July 7, 2021
• Last Update Submitted That Met QC Criteria: July 2, 2021
• Last Verified: July 1, 2021

More Information

Terms related to this study

• Keywords: no cardiomyopathy at diagnosis
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: 2020PI280

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No