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En studie om antistoffnivåer og biomarkører i blodet hos personer med sent oppstått Pompe-sykdom

7. oktober 2026 oppdatert av: Astellas Gene Therapies

En studie for å evaluere seroprevalens av antistoffer mot AAV8 og vurdering av biomarkører hos pasienter med sent oppstått Pompe-sykdom

Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA). This enzyme breaks down a type of sugar called glycogen. Without this enzyme, there is a build-up of glycogen in the cells of the body. This causes muscle weakness and other symptoms. Pompe disease can happen at any age, but in late-onset Pompe disease, symptoms generally start from 12 months old onwards.

The standard treatment for people with Pompe disease is to receive regular infusions of the GAA enzyme. This is known as enzyme replacement therapy. However, people can build up antibodies against the GAA enzyme over time.

Gene therapy is used to treat conditions caused by a faulty gene. It works by replacing the faulty gene with a working gene inside the cells of the body. The working gene is delivered into the cells using certain viruses as carriers (vectors). Viruses are often used as carriers as they can easily get inside cells. The genetic material of the original virus is replaced with the working gene, so only the working gene gets inside the cells. A common virus used as a carrier in gene therapy is the adeno-associated virus (or AAV). This is like an adenovirus, which causes the common cold.

The original type of AAV does not cause any harm to humans. However, people that have previously been infected with the original type of AAV may have built up antibodies against AAV. These antibodies may stop the AAV carrier with the working gene getting inside the cells.

Researchers want to learn more about antibody levels against AAV and the GAA enzyme in people with late-onset Pompe disease. They also want to learn about other substances in the blood that provide more information about late-onset Pompe disease. These are known as biomarkers.

In this study, older teenagers and adults with late-onset Pompe disease will take part. They will not have had gene therapy using AAV. There will be 2 groups - those who have never had enzyme replacement therapy, and those who have had enzyme replacement therapy for 6 months or more. No study treatment will be given during the study, but blood and urine samples will be taken for testing.

The main aims of the study are to check antibody levels against AAV8 (a type of AAV) in people with late-onset Pompe disease who had not received any treatment using AAV, to check antibody levels against the GAA enzyme in people previously treated with GAA as part of enzyme replacement therapy, to check levels of biomarkers for Pompe disease, and to check for medical problems.

In the study, people will visit the study clinic several times. Some visits may be in the person's home. The first visit is to check if they can take part. Those who can take part will have a medical examination, and have their vital signs checked. Vital signs include blood pressure, heart rate, breathing rate and temperature. Blood samples will be taken to check antibody levels against the GAA enzyme and against AAV8. Blood and urine samples will also be taken to check for biomarkers for Pompe disease. Blood and urine samples will be taken about every 4 months for up to 2 years.

Studieoversikt

Status

Aktiv, ikke rekrutterende

Forhold

Intervensjon / Behandling

Detaljert beskrivelse

No investigational drug will be administered to participants in this study. Blood and urine will be collected as part of the study. The duration of the study is approximately 2 years, participants may withdraw at any time.

Studietype

Intervensjonell

Registrering (Faktiske)

119

Fase

  • Ikke aktuelt

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiesteder

  • Australia
      • Adelaide, Australia
        • AU61003
      • Herston, Australia
        • AU61001
  • Brasil
      • Flamengo, Brasil
        • BR55003
      • Porto Alegre, Brasil
        • BR55002
      • São Paulo, Brasil
        • BR55001
  • Canada
      • Edmonton, Canada
        • CN15003
      • Montreal, Canada
        • CA15001
  • Forente stater
    • Georgia
      • Atlanta, Georgia, Forente stater, 30322
        • Emory Clinic
    • Kansas
      • Kansas City, Kansas, Forente stater, 66160
        • University of Kansas Medical Center
    • Michigan
      • Ann Arbor, Michigan, Forente stater, 48109
        • University of Michigan
    • Minnesota
      • Minneapolis, Minnesota, Forente stater, 55404
        • Children's Hospitals and Clinics of Minnesota
    • New Jersey
      • Hackensack, New Jersey, Forente stater, 07601
        • Hackensack University Medical Center
    • Ohio
      • Cincinnati, Ohio, Forente stater, 45221
        • University of Cincinnati
    • Pennsylvania
      • Philadelphia, Pennsylvania, Forente stater, 19104
        • University of Pennsylvania
      • Pittsburgh, Pennsylvania, Forente stater, 15213
        • University of Pittsburgh Medical Center
    • Utah
      • Salt Lake City, Utah, Forente stater, 84132
        • University of UTAH - PPDS
    • Virginia
      • Fairfax, Virginia, Forente stater, 22030
        • Lysosomal and Rare Diseases Research and Treatment Center, Inc.
  • Frankrike
      • Angers, Frankrike
        • FR33006
      • Garches, Frankrike
        • FR33009
      • Lille, Frankrike
        • FR33005
      • Limoges, Frankrike
        • FR33007
      • Marseille, Frankrike
        • FR33002
      • Nantes, Frankrike
        • FR33003
      • Nice, Frankrike
        • FR33004
      • Strasbourg, Frankrike
        • FR33001
  • Italia
      • Florence, Italia
        • IT39002
      • Gussago, Italia
        • IT39005
      • Messina, Italia
        • IT39012
      • Milan, Italia
        • IT39009
      • Milan, Italia
        • IT39011
      • Pavia, Italia
        • IT39008
      • Pisa, Italia
        • IT39006
      • Roma, Italia
        • IT39004
      • Udine, Italia
        • IT39003
  • Japan
      • Kodaira-Shi, Japan
        • National Center of Neurology and Psychiatry
      • Shinjuku-Ku, Japan
        • Tokyo Women's Medical University Hospital
  • Spania
      • Albacete, Spania
        • ES34003
      • Barcelona, Spania
        • ES34004
      • Donostia / San Sebastian, Spania
        • ES34009
      • L'Hospitalet de Llobregat, Spania
        • ES34007
      • Madrid, Spania
        • ES34001
      • Madrid, Spania
        • ES34005
      • Valencia, Spania
        • ES34002
  • Storbritannia
      • Cambridge, Storbritannia
        • UK44003
      • Newcastle upon Tyne, Storbritannia
        • UK44001
      • Salford, Storbritannia
        • UK44004
  • Taiwan
      • Taipei, Taiwan
        • TW88601
      • Taipei, Taiwan
        • TW88602
      • Taoyuan City, Taiwan
        • TW88603
  • Tyskland
      • Bonn, Tyskland
        • DT49005
      • Essen, Tyskland
        • DT49004
      • Höchheim, Tyskland
        • DT49003
      • Münster, Tyskland
        • DT49006

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

16 år til 69 år (Barn, Voksen, Eldre voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Beskrivelse

Inclusion Criteria:

  • Participant has a documented clinical diagnosis of LOPD.
  • Participant is enzyme replacement therapy ERT-naïve (ERT-N) or if the participant is currently taking an approved ERT treatment or is participating in an ERT-interventional study, the ERT must have been received for at least 6 months or more (ERT-experienced [ERT-E]).
  • Participant is willing and able to comply with study visits and procedures.
  • Participant agrees to not start participating in any other clinical study involving an investigational study treatment, including ERT, while participating in this study.

Exclusion Criteria:

  • Participant previously received an AAV-related product (any serotype).
  • Participant is currently participating in a Pompe-related interventional study (other than ERT-interventional studies) or has received gene or cell therapy.
  • Participant requires any invasive or noninvasive ventilation support while awake and upright (non-invasive support while sleeping with either continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) is acceptable for eligibility).
  • Participant is unable to ambulate (assistive devices [e.g., cane or walker] are acceptable for eligibility).
  • Participants who have received any ERT for less than 6 months as of the Baseline visit are not eligible.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

  • Primært formål: Annen
  • Tildeling: N/A
  • Intervensjonsmodell: Enkeltgruppeoppdrag
  • Masking: Ingen (Open Label)

Våpen og intervensjoner

Deltakergruppe / Arm
Intervensjon / Behandling
Annen: Participants with Late-Onset Pompe Disease

Adolescent or adult participants with LOPD.
Annen: No Intervention

No investigational drug will be administered to participants in this study.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Occurrence of total antibodies to AAV8
Tidsramme: Up to 2 years

Antibodies to AAV8 will be recorded from serum blood samples collected.
Up to 2 years
Occurrence of neutralizing antibodies to AAV8
Tidsramme: Up to 2 years

Antibodies to AAV8 will be recorded from serum blood samples collected.
Up to 2 years

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Seroconversion of antibodies to AAV8 over time
Tidsramme: Up to 2 years

Seroconversion of antibodies to AAV8 will be recorded from serum blood samples collected.
Up to 2 years
Creatine kinase [CK] levels
Tidsramme: Up to 2 years

CK levels will be recorded from blood plasma samples collected.
Up to 2 years
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time
Tidsramme: Up to 2 years

Glc4/Hex4 will be recorded from urine samples collected.
Up to 2 years
Occurrence of anti-GAA antibodies in participants on ERT
Tidsramme: Up to 2 years

Anti-GAA antibodies will be recorded from serum blood samples collected.
Up to 2 years

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

Astellas Gene Therapies

Etterforskere

  • Studieleder: Medical Director, Astellas Gene Therapies

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

1. februar 2024

Primær fullføring (Antatt)

30. juni 2027

Studiet fullført (Antatt)

30. juni 2027

Datoer for studieregistrering

Først innsendt

21. november 2023

Først innsendt som oppfylte QC-kriteriene

21. november 2023

Først lagt ut (Faktiske)

29. november 2023

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

8. oktober 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

7. oktober 2026

Sist bekreftet

1. oktober 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • AT845-02

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

NEI

IPD-planbeskrivelse

Access to anonymized individual participant level data will not be provided for this trial. Further details on Astellas' data sharing policy can be found at https://www.clinicaltrials.astellas.com/transparency/.

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

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