A registry of patients with Pompe disease

Start Date
01/09/2004
Expected end Date
26/02/2021
Location
International
Status
Recruiting

What is the aim of the trial?

This study is an observational study and no new or experimental drugs or treatments will be given to the participants.The Pompe registry has been set up to help record the treatments and clinical outcomes of patients with Pompe disease (also known as glycogen storage disease type 2). Patients can take part in the study through their own doctors; the registry will document the care and assessments the patients undergo during routine treatment of their condition.

The registry has four main aims: to help improve understanding of the course of Pompe disease, to help develop care recommendations for the disease, to find out more about the people who develop the disease, and to gather more information about different Pompe disease treatments, including Myozyme enzyme replacement therapy.

Who can be involved in the trial?

Any patients who have a definite diagnosis of Pompe disease and who are not already enrolled in another clinical trial run by Genzyme can join this registry. Pompe disease is caused by a reduction in levels of the enzyme acid alpha-glucosidase (GAA). To be included on the Pompe registry the presence of a mutation in the GAA gene or deficiency of the GAA enzyme must be confirmed.

What happens during the trial?

Patients will continue receiving care and treatment as normal from their usual doctor. Information gathered at visits to the doctor will be sent to the registry. So that meaningful data can be gathered, the Pompe registry recommends a certain number of assessments be performed at regular intervals (every 3, 6, or 12 months). These include physical assessments such as weight and blood pressure measurements, clinical assessments such as chest x-rays and tests on the heart (electrocardiograms), and laboratory assessments such as blood and urine tests. Quality of life questionnaires will also be completed.

Patients receiving enzyme replacement therapy will also regularly have levels of antibodies in the blood measured and will be closely monitored.

Where is the study taking place?

This trial is based in Europe, Asia, Latin America, and North America and you do not need to live close to a trial centre to take part. However in order to enrol on the study your doctor must first be registered as a participant. You can ask your doctor about taking part in the Pompe registry.

How could the results of the trial benefit patients?

The aim of the Pompe registry is to gather as much information as possible about the development, course, and treatment of the disease. The registry allows communication and information sharing between clinicians and other Pompe disease specialists, which in turn will lead to a better standard of care for the patients. Information from this study may ultimately help to improve diagnosis, treatment, and management of Pompe disease.

Contact Details:

Tel: +31 (0)35 699 1232

Email: europe@PompeRegistry.com

Who is funding this study?

  • Genzyme Corporation

Official name of the Trial:

Pompe Disease Registry

Trial study number:

NCT00231400

Further trial details:

For further information on the trial and detailed inclusion and exclusion please click on the link below. Sometimes these details can be quite technical. If you have any questions please discuss this with your clinician or contact the clinical trial organisers.

http://clinicaltrials.gov/ct2/show/NCT00231400

Background information and related links:

This study is an observational study and no new or experimental drugs or treatments will be given to the participants.The Pompe registry has been set up to help record the treatments and clinical outcomes of patients with Pompe disease (also known as glycogen storage disease type 2). Patients can take part in the study through their own doctors; the registry will document the care and assessments the patients undergo during routine treatment of their condition.

The registry has four main aims: to help improve understanding of the course of Pompe disease, to help develop care recommendations for the disease, to find out more about the people who develop the disease, and to gather more information about different Pompe disease treatments, including Myozyme enzyme replacement therapy.

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