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

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Participant type

Pediatric, Patients, Healthy volunteers

Age range

0-17 years, 18-64 years, 65+ years

Gender

Male and Female

Therapeutic area

Diseases [C] - Musculoskeletal Diseases [C05], Diseases [C] - Nutritional and Metabolic Diseases [C18]

Decision date (initial)

2024-12-16

Transition trial

Yes

Low-intervention

No

Rare-disease indication

Yes

Vulnerable population

No

External identifiers

EU CT number

2024-518269-92-00

EudraCT number

2007-001375-11

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Diagnosis, Pharmacoeconomic, Therapy, Prophylaxis, Efficacy, Others

• Increase knowledge on the long term clinical effects of enzyme replacement therapy and to improve the level of care in children and adults with Pompe disease
• Obtain data to support continuation of reimbursement by the Dutch health authorities after the initial 3 years
• Assess the economic burden of Pompe disease (inventory of the costs of (medical) care, informal care and loss of productivity) and effects of enzyme therapy on these costs
• Improve the efficacy (“doelmatigheid”) of enzyme therapy: • Development of guidelines when to start or stop enzyme therapy; • Should dosing be advised per kg body weight or per kg lean body mass
• Safely install enzyme therapy at home
• Learn more about atrophy and regeneration capacity of skeletal muscle in children and adults

Conditions and MedDRA coding

Pompe disease / glycogenosis type II / acid maltase deficiency

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 7

1. 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.
2. 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).
3. Patients have had at least one evaluation through which the severity of the disease has been assessed and the urgency of enzyme therapy can be determined. During this evaluation at least pulmonary function and muscle strength and function will be assessed.
4. The order in which adult patients with Pompe disease will be enrolled is determined by the “indicatiecommissie” (appendix 2). For patients who show rapid progression of disease or for children the need for enzyme therapy will be discussed on a case by case basis
5. The patient must have symptoms of Pompe disease being:  Signs of skeletal muscle weakness, or  Decreased pulmonary function (FVC < 80% in sitting position), or  Cardiac hypertrophy
6. Start of treatment has been approved by the “indicatie commissie”
7. Written informed consent must be obtained from the patient and/or from the patient's parent/guardian if the patient is under 18 years of age (see section 6.1).

Exclusion criteria 1

1. Cases who are not likely to benefit from treatment.

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 9

1. Survival
2. Muscle strength and function
3. Motor and mental outcome
4. Pulmonary function
5. Cardiac hypertrophy and function
6. Hearing loss
7. Disease specific symptoms, handicap, quality of life and fatigue
8. Muscle mass and regeneration
9. Costs

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 1

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Sponsor organisation

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Address

Dr. Molewaterplein 40

City

Rotterdam

Postcode

3015 GD

Country

Netherlands

Scientific contact point

Organisation

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Contact name

Iris Hoogenboom-Plug

Public contact point

Organisation

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Contact name

Iris Hoogenboom-Plug

Locations

1 EU/EEA country · 1 investigational sites

By country

Investigational sites

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 6 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

1 submissions — initial application plus substantial / non-substantial modifications