Principal Investigator: Nicholas Johnson
Keywords: Pompe Disease Department: Neurology
IRB Number: 00087215
Specialty: Neurology
Sub Specialties: Muscular Dystrophy
Recruitment Status: Recruiting

Contact Information

Carenina  Trujillo

Brief Summary

Purpose: This study will measure the incidence of Pompe disease based on manifest laboratory abnormality, namely low acid alpha-glucosidase (GAA) enzyme activity.  Analysis of GAA enzyme activity will be determined through a blood sample of 5-10 mL. The study seeks to measure the epidemiology of Pompe disease by symptomatically screening all patients who present with symptoms of hitherto undiagnosed proximal weakness with or without elevation of the muscle enzyme, creatinine kinase (CK), or elevation of CK alone, at thirteen academic tertiary neuromuscular practices throughout the United States and Canada.  Total recruitment is expected to be ~1,500 participants.  The anticipated number of incident Pompe cases in this cohort would be between 3-5%, i.e. a diagnosis of between 45-75 new cases of Pompe through this screening.


Primary:  To determine the true incidence of Pompe disease among patients seen at neuromuscular clinics.

Secondary:  To further characterize rare neuromuscular diseases including Pompe disease.

Inclusion Criteria

Individuals meeting all of the following criteria will be allowed to enroll in the study:

  1. Age 8 years or older.
  2. Geographically accessible to one of the sites.
  3. One of these following three clinical situations: Complaint of proximal muscle weakness with or without elevation in creatinine kinase (CK); neck muscle weakness (either flexor or extensor) with or without elevation in CK; or elevation of CK in isolation.  
  4. Capable and willing to provide informed consent or assent and follow study procedures.

Exclusion Criteria

Individuals meeting any of the following criteria during screening evaluations will be excluded from enrollment in the study:

1.       Less than 8 years of age.

2.       Subjects with an alternative neuromuscular diagnosis that is responsible for subject’s symptoms

3. Incapable or unwilling to provide informed consent and to follow research procedures.