Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices (IPANEMA)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02838368
Recruitment Status : Completed
First Posted : July 20, 2016
Last Update Posted : February 25, 2019
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Tahseen Mozaffar, University of California, Irvine

Tracking Information
First Submitted Date May 12, 2016
First Posted Date July 20, 2016
Last Update Posted Date February 25, 2019
Actual Study Start Date July 2015
Actual Primary Completion Date July 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 19, 2016)
The true incidence of Pompe disease among patients seen at neuromuscular clinics. [ Time Frame: Two years ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Official Title Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Probability Sample
Study Population Patients age of 8 years and older suspected of late-onset Pompe disease.
Condition Pompe Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: February 21, 2019)
921
Original Estimated Enrollment
 (submitted: July 19, 2016)
1500
Actual Study Completion Date December 1, 2018
Actual Primary Completion Date July 2018   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 8 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02838368
Other Study ID Numbers UCI-Ipanema
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Tahseen Mozaffar, University of California, Irvine
Study Sponsor University of California, Irvine
Collaborators Genzyme, a Sanofi Company
Investigators
Principal Investigator: Tahseen Mozaffar, MD University of California, Irvine
PRS Account University of California, Irvine
Verification Date August 2018