Clinical trial NCT04942912: Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease
Official title: Effect of Enzyme Replacement Therapy in Patients With Juvenile-Onset Pompe Disease: a Long-term Observational Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Pompe's Disease Juvenile Onset
Keywords: no cardiomyopathy at diagnosis
Lead sponsor: Central Hospital, Nancy, France
Sponsor class: OTHER
First posted: 2021-06-29
Enrollment: 10
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
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.

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.

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

Primary outcomes:
measure: 6-min walk test
timeFrame: Day 1
measure: 6-min walk test
timeFrame: Through study completion, an average of 1 year
measure: Forced vital capacity
timeFrame: Day 1
measure: Forced vital capacity
timeFrame: Through study completion, an average of 1 year
Secondary outcomes:
measure: Blood creatinine kinase level
timeFrame: Day 1
measure: Blood creatinine kinase level
timeFrame: Through study completion, an average of 1 year
measure: ASAT
timeFrame: Day 1
measure: ASAT
timeFrame: Through study completion, an average of 1 year
measure: ALAT
timeFrame: Day 1
measure: ALAT
timeFrame: Through study completion, an average of 1 year
Other outcomes:
Locations:
city: Nancy
country: France
facility: Children's Hospital - CHRU de Nancy
Study officials:
affiliation: Children's Hospital - CHRU de Nancy, France
name: François FEILLET, MD, PHD
role: PRINCIPAL_INVESTIGATOR
References: