A multi-center, non-randomized study to characterize biomarkers in cerebrospinal fluid (CSF) of patients with infantile-onset (IOPD) or late-onset Pompe disease (LOPD)

A multi-center, non-randomized study to characterize biomarkers in cerebrospinal fluid (CSF) of patients with infantile-onset (IOPD) or late-onset Pompe disease (LOPD) - ASY17795

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON56183

Enrollment

Registered

2023-05-25

Start date

2024-07-12

Completion date

Unknown

Last updated

2026-04-14

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

acid alpha glucosidase deficiency Pompe Disease

Interventions

None listed

Eligibility

Age

No minimum to 99 Years

Inclusion criteria

Inclusion criteria: I 01. Participants who have a confirmed diagnosis of LOPD and clinical signs or symptoms OR participants who have a confirmed diagnosis of IOPD. I 02. Capable of giving signed informed consent as described in Appendix 1 (Section 10.1) of the protocol which includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol; OR If participant is

Exclusion criteria

Exclusion criteria: E 01. Chronic illness, except for LOPD, IOPD, or directly resulting from Pompe disease, that, at the discretion of the Investigator, could have an impact on Hex4 and inflammatory markers in the CSF. E 02. Any acute illness that, at the discretion of the Investigator, could have an impact on Hex4 and inflammatory markers in the CSF. E 03. High risk of complications from lumbar puncture or potentially associated procedural sedation, as judged by the Investigator. E 04. Concurrent treatment with any experimental drug or experimental vaccine. E 05. Participation in another clinical trial with any investigational drug within 30 days or 5 half-lives, whichever is greater, prior to study start (Day 1). E 06. Previous participation in any clinical trial involving gene therapy.

Design outcomes

Primary

Measure	Time frame
Primary objective: To evaluate Hex4 concentrations in CSF from patients with infantile-onset (IOPD) and late-onset (LOPD) Pompe disease Endpoint: Concentration of Hex4 in CSF of patients with IOPD and LOPD	—

Secondary

Measure	Time frame
Secondary objectives: -To evaluate Hex4 concentrations in plasma and urine of patients with IOPD and LOPD -To evaluate inflammatory biomarkers, including NfL, in CSF, and concomitantly in plasma and/or serum, of patients with IOPD and LOPD Endpoints: -Concentration of Hex4 in plasma and of creatinine normalized Hex4 in urine, concomitantly drawn at the time of CSF collection, of patients with IOPD and LOPD -Concentration of biomarkers, including NfL, in CSF, plasma and/or serum from patients with IOPD and LOPD	—

Measure

Time frame

Secondary objectives: -To evaluate Hex4 concentrations in plasma and urine of patients with IOPD and LOPD -To evaluate inflammatory biomarkers, including NfL, in CSF, and concomitantly in plasma and/or serum, of patients with IOPD and LOPD Endpoints: -Concentration of Hex4 in plasma and of creatinine normalized Hex4 in urine, concomitantly drawn at the time of CSF collection, of patients with IOPD and LOPD -Concentration of biomarkers, including NfL, in CSF, plasma and/or serum from patients with IOPD and LOPD

—

Countries

Netherlands

Outcome results