- ICH GCP
- US Clinical Trials Registry
- Klinisk utprøving NCT04942912
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.
Studieoversikt
Status
Forhold
Detaljert beskrivelse
Studietype
Registrering (Forventet)
Kontakter og plasseringer
Studiekontakt
- Navn: Qiaoyan HUANG, Resident
- Telefonnummer: +33 383154541
- E-post: Q.HUANG2@chru-nancy.fr
Studiesteder
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Nancy, Frankrike, 54000
- Rekruttering
- Children's Hospital - CHRU de Nancy
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Ta kontakt med:
- PERRETON, secretary
- Telefonnummer: +33 383154615
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Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
Tar imot friske frivillige
Kjønn som er kvalifisert for studier
Prøvetakingsmetode
Studiepopulasjon
Beskrivelse
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
Studieplan
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
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French patients with juvenile Pompe disease
We aim to include all French patients with juvenile Pompe disease (maltase acid deficiency without cardiomyopathy)
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Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
---|---|---|
6-min walk test
Tidsramme: Day 1
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Walking distance during 6 minutes
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Day 1
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6-min walk test
Tidsramme: Through study completion, an average of 1 year
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Walking distance during 6 minutes
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Through study completion, an average of 1 year
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Forced vital capacity
Tidsramme: Day 1
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Evaluation of respiratory function test
|
Day 1
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Forced vital capacity
Tidsramme: Through study completion, an average of 1 year
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Evaluation of respiratory function test
|
Through study completion, an average of 1 year
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Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
---|---|---|
Blood creatinine kinase level
Tidsramme: Day 1
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Biological marker of Pompe disease
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Day 1
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Blood creatinine kinase level
Tidsramme: Through study completion, an average of 1 year
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Biological marker of Pompe disease
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Through study completion, an average of 1 year
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ASAT
Tidsramme: Day 1
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Biological markers of tPompe Disease
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Day 1
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ASAT
Tidsramme: Through study completion, an average of 1 year
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Biological markers of tPompe Disease
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Through study completion, an average of 1 year
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ALAT
Tidsramme: Day 1
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Biological markers of tPompe Disease
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Day 1
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ALAT
Tidsramme: Through study completion, an average of 1 year
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Biological markers of tPompe Disease
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Through study completion, an average of 1 year
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Samarbeidspartnere og etterforskere
Sponsor
Etterforskere
- Hovedetterforsker: François FEILLET, MD, PHD, Children's Hospital - CHRU de Nancy, France
Studierekorddatoer
Studer hoveddatoer
Studiestart (Faktiske)
Primær fullføring (Faktiske)
Studiet fullført (Forventet)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
- Metabolske sykdommer
- Hjernesykdommer
- Sykdommer i sentralnervesystemet
- Sykdommer i nervesystemet
- Genetiske sykdommer, medfødte
- Karbohydratmetabolisme, medfødte feil
- Metabolisme, medfødte feil
- Lysosomale lagringssykdommer
- Hjernesykdommer, metabolske
- Hjernesykdommer, metabolske, medfødte
- Lysosomale lagringssykdommer, nervesystemet
- Glykogenlagringssykdom
- Glykogenlagringssykdom Type II
Andre studie-ID-numre
- 2020PI280
Legemiddel- og utstyrsinformasjon, studiedokumenter
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