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OpenTrials
Completed

NCT Number: NCT00113035

Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease

Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The primary objective of this study is to identify potential candidates for future clinical studies in Pompe disease.

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Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

8 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Tower Hematology/Oncology Medical Group, Beverly Hills, California, United States

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Must provide written informed consent prior to any study-related procedures being performed
  • Clinical presentation consistent with late-onset Pompe disease, or a current clinical diagnosis of late-onset Pompe disease
  • Must be greater than or equal to 8 years of age
  • Must be able to ambulate (use of assistive devices, such as a walker, cane or crutches, is permitted)

Exclusion criteria

  • Requires the use of invasive ventilatory support
  • Requires the use of noninvasive ventilatory support while awake and in an upright position
  • Use of any investigational product within 30 days prior to study enrollment
  • Unwillingness to comply with protocol requirements
  • Has clinically significant organic disease, unstable medical condition, serious or intercurrent illness
  • Is pregnant or lactating
  • Has participated in the Prospective Observational Study in Patients with Late-Onset Pompe Disease (AGLU02303, "LOPOS")

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study title

Screening Protocol to Evaluate Acid Alpha Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease for Potential Inclusion in Future Clinical Studies With Myozyme (Alglucosidase Alfa)

Important dates

Study start
2005
Study completion
2005
First posted
Jun 6, 2005
Registry last updated
May 5, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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