NCT04942912

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

Status unknown Last updated 7 July 2021

What this trial tests

trial in Pompe's Disease Juvenile Onset in 10 participants. Status unknown.

Timeline

1 April 2021

Primary endpoint
30 June 2021

30 July 2021

Quick facts

Lead sponsor	Central Hospital, Nancy, France
Status	Status unknown
Study type	OBSERVATIONAL
Enrollment	10
Start date	1 April 2021
Primary completion	30 June 2021
Estimated completion	30 July 2021
Sites	1 location across France

Conditions studied

• Pompe's Disease Juvenile Onset — all drugs for Pompe's Disease Juvenile Onset →

Sponsor

Central Hospital, Nancy, France

Who can join

Under 18, any sex, with Pompe's Disease Juvenile Onset. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.