Exploratory Muscle Biopsy Assessment Study in Patients with Late-onset Pompe Disease Treated with Alglucosidase Alfa

Start Date
01/06/2011
Expected end Date
01/07/2013
Status
Recruiting

What is the aim of the trial?

The aim of this trial is to determine the effect of the enzyme alglucosidase alfa on clearance of glycogen in muscle tissues in individuals with late-onset Pompe disease.

Individuals with Pompe disease, also known as glycogen storage disease type II, have lower than normal levels of an enzyme called alpha glucosidase due to mutations in the gene that makes this enzyme. Mutations in alpha glucosidase results in an enzyme that can no longer degrade the long-term energy storage molecule glycogen and this, in turn, leads to an accumulation of glycogen in the lysosomes, the waste disposal compartments of cells. Glycogen build-up affects various tissues of the body such as the heart, skeletal muscle and the nervous system and leads to progressive muscle weakness.

Alglucosidase alfa is a drug that is intended to replace the mutated alpha glucosidase enzyme in individuals with Pompe disease. It enables the body to break down glycogen and is already licensed for use in individuals with late-onset Pompe disease.

Who can be involved in the trial?

This trial aims to recruit 15 individuals, over 18 years of age, who have a confirmed deficiency in the alpha glucosidase enzyme from any tissue source and/or confirmed mutations in the alpha glucosidase gene. Participants must be able to walk a prescribed distance without stopping or using a walker; however, use of an assistive device for community ambulation is appropriate.

The participants must not have an enlarged heart (cardiac hypertrophy) and, if female, must have a negative pregnancy test. Participants must be able to obtain a certain forced vital capacity in an upright position.

Individuals are ineligible if they have had previous enzyme replacement therapy, if they are dependent on a wheelchair and if they require invasive ventilation. They are also deemed ineligible if they are a participant in any other clinical study and if they are unable to undergo a magnetic resonance imaging examination.

Finally, participants are ineligible if they are unable to adhere to the requirements of the study.

What happens during the trial?

All participants meeting the requirements of this study will take part in a 26-week trial. Prior to the trial starting, baseline measurements of glycogen content from muscle biopsies, glycogen distribution, muscle fibre morphology, lysosomal inclusions and intact muscle/fatty replacement will be taken. Over a 24-week period participants will receive intravenous infusions of alglucosidase alfa every second week. Two weeks after the last infusion the same measurements will be taken and will be compared to the baseline measurements.

Where is the study taking place?

The study is taking place at the following centres in North America, Europe and the UK.

• Orange California; Gainsville, Florida; Kansas City, Kansas; St. Louis, Missouri; California, Florida; New York, New York; olumbus, Ohio and Springfield, Virginia in the United States
• Mainz, Munchen and Munster in Germany
• Rotterdam in the Netherlands
• Newcastle upon Tyne in the United Kingdom

How could the results of the trial benefit patients?

Alglucosidase alfa is a treatment that is licensed to treat individuals with late-onset Pompe disease. This particular trial will look at the long-term (six-month) outcomes of this treatment on muscle tissue. This will help to confirm the clinical benefit of alglucosidase alfa to individuals with late-onset Pompe disease.

Contact Details:

Medical Information

Tel: +1 800 745 4447 or +1 617 252 7832

Email: medinfo@genzyme.com

Who is funding this study?

  • Genzyme

Official name of the Trial:

A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients with Late-Onset Pompe Disease Treated with Alglucosidase Alfa.

Trial study number:

NCT01288027

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.

www.clinicaltrials.gov/show/NCT01288027

Background information and related links:

The aim of this trial is to determine the effect of the enzyme alglucosidase alfa on clearance of glycogen in muscle tissues in individuals with late-onset Pompe disease.

Individuals with Pompe disease, also known as glycogen storage disease type II, have lower than normal levels of an enzyme called alpha glucosidase due to mutations in the gene that makes this enzyme. Mutations in alpha glucosidase results in an enzyme that can no longer degrade the long-term energy storage molecule glycogen and this, in turn, leads to an accumulation of glycogen in the lysosomes, the waste disposal compartments of cells. Glycogen build-up affects various tissues of the body such as the heart, skeletal muscle and the nervous system and leads to progressive muscle weakness.

Alglucosidase alfa is a drug that is intended to replace the mutated alpha glucosidase enzyme in individuals with Pompe disease. It enables the body to break down glycogen and is already licensed for use in individuals with late-onset Pompe disease.

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