Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

Pompe Disease Clinical Trial

— IPANEMA  

Official title:

Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02838368
• Other study ID #: UCI-Ipanema
• Status: Completed
• Start date: July 2015
• Est. completion date: December 1, 2018

Study information

• Verified date: August 2018
• Source: University of California, Irvine
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 921
• Est. completion date: December 1, 2018
• Est. primary completion date: July 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 8 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease

Locations

Country	Name	City	State
United States	University of California, Irvine	Irvine	California

Sponsors (2)

Lead Sponsor	Collaborator
University of California, Irvine	Genzyme, a Sanofi Company

Country where clinical trial is conducted

United States, 

References & Publications (5)

Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15. Review. — View Citation

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.

Leslie N, Bailey L. Pompe Disease. 2007 Aug 31 [updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK1261/ — View Citation

Martiniuk F, Chen A, Mack A, Arvanitopoulos E, Chen Y, Rom WN, Codd WJ, Hanna B, Alcabes P, Raben N, Plotz P. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. 1998 Aug 27;79(1):69-72. — View Citation

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The true incidence of Pompe disease among patients seen at neuromuscular clinics.		Two years