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Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices (IPANEMA)

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ClinicalTrials.gov Identifier: NCT02838368
Recruitment Status : Active, not recruiting
First Posted : July 20, 2016
Last Update Posted : August 10, 2018
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Tahseen Mozaffar, University of California, Irvine

Brief Summary:

The incidence of type II glycogen-storage disease (Pompe disease) varies depending on ethnicity and geographic region. As of 2010, nine studies have been published documenting the incidence of Pompe disease. It is most common within the African American population, with an incidence of 1 in 14,000. In the U.S. more broadly speaking, the combined incidence of all three variants of the disease is 1 in 40,000. These estimates relied on the frequencies of three mutations in the gene acid alpha-glucosidase (GAA), leading to variants of the disease. Criteria for inclusion in the studies were often non-selective; in many cases, molecular genetic screening was done at birth. With such a high prevalence of Pompe disease reported, it is expected that large university medical centers specializing in neuromuscular diseases would see a higher incidence of Pompe disease among their patients. From a comparable Italian multicenter study, it appears that Pompe disease accounts for 3% of all patients presenting with proximal weakness with or without CK elevation.

This study will measure the incidence of Pompe disease based on manifest laboratory abnormality, namely low GAA enzyme activity. Analysis of GAA enzyme activity will be determined through a blood sample of 4 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. It is anticipated that the number of incident Pompe cases in this cohort would be between 3-5%, i.e. 45-75 newly diagnosed cases of Pompe disease.


Condition or disease
Pompe Disease

Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Actual Study Start Date : July 2015
Actual Primary Completion Date : July 2018
Estimated Study Completion Date : October 2018





Primary Outcome Measures :
  1. The true incidence of Pompe disease among patients seen at neuromuscular clinics. [ Time Frame: Two years ]


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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients age of 8 years and older suspected of late-onset Pompe disease.
Criteria

Inclusion Criteria:

  • Age 8 years or older.
  • Geographically accessible to one of the sites.
  • 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.
  • Capable and willing to provide informed consent or assent and follow study procedures.

Exclusion Criteria:

  • Less than 8 years of age.
  • Subjects with an alternative neuromuscular diagnosis that is responsible for subject's symptoms
  • Incapable or unwilling to provide informed consent and to follow research procedures.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02838368


Locations
United States, California
University of California, Irvine
Irvine, California, United States, 92868
Sponsors and Collaborators
University of California, Irvine
Genzyme, a Sanofi Company
Investigators
Principal Investigator: Tahseen Mozaffar, MD University of California, Irvine

Publications:
Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3389-420.

Responsible Party: Tahseen Mozaffar, Professor, University of California, Irvine
ClinicalTrials.gov Identifier: NCT02838368     History of Changes
Other Study ID Numbers: UCI-Ipanema
First Posted: July 20, 2016    Key Record Dates
Last Update Posted: August 10, 2018
Last Verified: August 2018

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases