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Completed

NCT Number: NCT03893240

Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.

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Key information

Conditions

Pompe Disease Acid Maltase Deficiency Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type 2 Glycogen Storage Disease Type II LOPD Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Pompe Disease (Late-onset)

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Raymond-Poincaré, Garches, Hauts-de-Seine, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Provide written informed consent and authorization to use protected health information in accordance with national and local privacy regulations
  • Male or females ≥18 years of age
  • Currently on ERT using regular recombinant human GAA infusions for at least 18 months prior to screening
  • Documented history of clinically moderate late-onset Pompe disease.

Exclusion criteria

  • History of HIV infection
  • Requires any invasive ventilation (other than BiPAP at night) or noninvasive ventilation while awake and upright
  • Previously received SPK-3006
  • Previously dosed with any investigational or approved gene therapy product at any time or treated with an investigational drug within the last 12 weeks (vaccination studies are accepted)
  • Any concurrent clinically significant condition that would not allow the potential participant to complete the Day 1 examinations, or other condition that, in the opinion of the Investigator and/or Sponsor, makes the subject unsuitable for participation in the study
  • Unable or unwilling to comply with the schedule of visits and/or study assessments described in the clinical protocol.

Treatment and study plan

Neutralizing Antibody to SPK-3006 capsid

Diagnostic Test

Collected during a single study visit to establish the occurrence of neutralizing antibodies to SPK-3006 capsid in participants with LOPD on an enzyme replacement regimen.

Primary outcomes

  1. Neutralizing Antibodies Titer to SPK-3006 capsid

    Time frame: 1 day

    The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit.

  2. Occurrence of Neutralizing Antibodies to SPK-3006 capsid

    Time frame: 1 day

    The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.

Secondary outcomes

  1. Anti-GAA binding antibodies Titer

    Time frame: 1 day

    Anti-GAA binding antibodies titer is measured once prospectively at one site visit.

  2. Occurrence of Anti-GAA binding antibodies across participants

    Time frame: 1 day

    The proportion of participants who have Anti-GAA binding antibodies.

  3. Neutralizing antibodies to circulating GAA Titer

    Time frame: 1 day

    Neutralizing antibodies to circulating GAA titer is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.

  4. Occurrence of Neutralizing antibodies to circulating GAA

    Time frame: 1 day

    The proportion of participants who have neutralizing antibodies to circulating GAA.

  5. GAA activity level

    Time frame: 1 day

    GAA activity level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.

  6. GAA antigen level

    Time frame: 1 day

    GAA antigen level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.

Sponsors and collaborators

Lead sponsor

Spark Therapeutics, Inc.

Industry

Registry information

Official study title

A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

Important dates

Study start
2019
Primary completion
2020
Study completion
2020
First posted
Mar 28, 2019
Registry last updated
Mar 24, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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