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

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)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00113035

Enrollment

Registered

2005-06-06

Start date

2005-05-31

Completion date

2005-10-31

Last updated

2015-05-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe Disease

Keywords

Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency, Glycogenosis 2

Brief summary

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.

Interventions

None listed

Study design

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

8 Years to No maximum

Healthy volunteers

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)

Countries

United States

Outcome results