Trials Sponsors Conditions Drugs Pricing

Conditions

Pompe disease / glycogenosis type II / acid maltase deficiency

Outcome Measures

Primary Outcomes (9)

Survival
Muscle strength and function
Motor and mental outcome
Pulmonary function
Cardiac hypertrophy and function
Hearing loss
Disease specific symptoms, handicap, quality of life and fatigue
Muscle mass and regeneration
Costs

Interventions

Myozyme 50 mg powder for concentrate for solution for infusionType not reported

Eligibility Criteria

Sexall

Healthy VolunteersYes

Age GroupsAdult (18-64), Child (0-17), Older Adult (65+)

You may qualify if:

Patients should have a proven diagnosis of Pompe disease, which means that the diagnosis is confirmed by deficiency of α-glucosidase activity in leukocytes, fibroblasts or skeletal muscle, or by a documented mutation in the α-glucosidase gene. A skin biopsy is required to assess the level of residual α-glucosidase activity.
There is no age limit for participation in the study, but the protocol for children < 12 years of age differs in the amount of blood that will be drawn (appendix 1).

Sponsors & Collaborators

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)
Type not reportedlead

Study Sites (1)

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Rotterdam, 3015 GD, Netherlands

Ans van der Ploeg+31107037254 a.vanderploeg@erasmusmc.nl

Central Study Contacts

Iris Hoogenboom-Plug

+31618555999 i.plug@erasmusmc.nl

Study Design

Study Type: interventional
Phase: phase 4

Study Record Dates

First Submitted

October 15, 2024

Source record

Download the complete CTIS (EMA) record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.

Source: European Medicines Agency (EMA), Clinical Trials Information System (CTIS). Original record and public documents are available on CTIS.

JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.

Registry identifier: 2024-518269-92-00
Data provider: European Medicines Agency (EMA)
Normalization version: ctis-v1

Open registry record

Source retrieved: 2026-10-30 05:50:58 UTC

Documents

D1_Protocol EU CT 2024-518269-92-00

Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

Conditions

Outcome Measures

Primary Outcomes (9)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Central Study Contacts

Study Design

Study Record Dates

Source record

Documents

You may not qualify if:

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

Conditions

Outcome Measures

Primary Outcomes (9)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Central Study Contacts

Study Design

Study Record Dates

Source record

Documents

You may not qualify if:

Locations