Protocolised follow-up of Pompe patients receiving enzyme replacement therapy on a compassionate use basis

ISRCTN	ISRCTN72578000
DOI	https://doi.org/10.1186/ISRCTN72578000
Protocol serial number	N/A
Sponsor	Erasmus Medical Centre (Netherlands)
Funder	Genzyme Corporation (Netherlands)

Prospectively registered

Protocol

Statistical analysis plan

Results

Individual participant data

Record updated in last year

Plain English summary of protocol

Not provided at time of registration

Dr A van der Ploeg
Scientific

Erasmus Medical Centre
Sophia Children's Hospital
PO Box 2060
Rotterdam
3000 CB
Netherlands

Phone	+31 (0)10 463 7044
Email	a.vanderploeg@erasmusmc.nl

Primary study design	Observational
Study design	Protocolised follow up of parallel group trial
Secondary study design	Single-centre
Study type	Participant information sheet
Scientific title	Protocolised follow-up of Pompe patients receiving enzyme replacement therapy on a compassionate use basis
Study objectives	Enzyme therapy with recombinant human alpha glucosidase results in: 1. Prolonged survival 2. Improvement or stabilisation of cardiac hypertrophy and function 3. Improvement or stabilisation of pulmonary function 4. Improvement or stabilisation of muscle function and strength
Ethics approval(s)	Ethics approval received from the local medical ethics committee
Health condition(s) or problem(s) studied	Pompe Disease
Intervention	Enzyme replacement therapy
Intervention type	Drug
Phase	Not Specified
Drug / device / biological / vaccine name(s)	Recombinant human alpha glucosidase
Primary outcome measure(s)	1. Infantile: Survival 2. Late-onset: Improvement and/or stabilisation of muscle function
Key secondary outcome measure(s)	1. Infantile: a. improvement of cardiac hypertrophy and function b. achievement of motor milestones 2. Late-onset: a. improvement and/or stabilisation of pulmonary function b. improvement of quality of life
Completion date	01/01/2050

Participant type(s)	Patient
Age group	Not Specified
Sex	Not Specified
Target sample size at registration	12
Key inclusion criteria	1. Confirmed diagnosis of Pompe Disease 2. Infantile-onset: 2.1. Age less than one year 2.2. Delayed motor milestones, and/or 2.3. Hypertrophic cardiomyopathy 3. Late-onset: 3.1. 24 hour/day artificial ventilation 3.2. Wheelchair bound 3.3. Previously enrolled in AGLU 1202 study
Key exclusion criteria	1. Infantile-onset: 1.1. congenital abnormalities 1.2. allergy to food and/or proteins 1.3. ventilator dependency 2. Late-onset: 2.1. developmental delays not explained by Pompe's Disease 2.2. allergies 2.3. severe co-morbidity
Date of first enrolment	01/01/1999
Date of final enrolment	01/01/2050

Erasmus Medical Centre

Rotterdam
3000 CB
Netherlands

Individual participant data (IPD) Intention to share	No
IPD sharing plan summary	Not provided at time of registration
IPD sharing plan

Output type	Details	Date created	Date added	Peer reviewed?	Patient-facing?
Participant information sheet	Participant information sheet	11/11/2025	11/11/2025	No	Yes