Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa

This study is currently recruiting participants.

Verified April 2013 by Genzyme

Sponsor:

Information provided by (Responsible Party):

Genzyme

ClinicalTrials.gov Identifier:

NCT01288027

First received: January 27, 2011

Last updated: April 4, 2013

Last verified: April 2013

History of Changes

Purpose

This is an open-label, multicenter study of patients with late-onset Pompe disease naïve to treatment with enzyme replacement therapy (ERT). The primary purpose of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in patients with Late-Onset Pompe disease.

Condition	Intervention	Phase
Pompe Disease (Late-Onset) Glycogen Storage Disease Type II (GSD II) Glycogenesis 2 Acid Maltase Deficiency	Biological: alglucosidase alfa	Phase 4

Study Type:	Interventional
Study Design:	Allocation: Non-Randomized Endpoint Classification: Safety/Efficacy Study Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Treatment
Official Title:	A Prospective Muscle Biopsy and Biomarker Assessment Study in Patients With Late-Onset Pompe Disease Who Are Starting Treatment With Alglucosidase Alpha

Resource links provided by NLM:

Genetics Home Reference related topics: glycogen storage disease type IX Pompe disease Schindler disease succinic semialdehyde dehydrogenase deficiency

Drug Information available for: Alglucosidase Alfa

U.S. FDA Resources

Further study details as provided by Genzyme:

Primary Outcome Measures:

Percent reduction from baseline in tissue glycogen content in muscle biopsy samples. [ Time Frame: Week 26 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

Glycogen distribution [ Time Frame: Baseline and Week 26 ] [ Designated as safety issue: No ]
Muscle fiber morphology [ Time Frame: Baseline and Week 26 ] [ Designated as safety issue: No ]
Lysosomal inclusions [ Time Frame: Baseline and Week 26 ] [ Designated as safety issue: No ]
change from baseline in intact muscle and fatty replacement [ Time Frame: Week 26 ] [ Designated as safety issue: No ]

Estimated Enrollment:	16
Study Start Date:	June 2011
Estimated Study Completion Date:	January 2014
Estimated Primary Completion Date:	January 2014 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
Experimental: alglucosidase alfa Intravenous (IV) infusion of 20mg/kg every other week (qow) for 24 weeks.	Biological: alglucosidase alfa Intravenous (IV) infusion of 20mg/kg every other week (qow)for 24 weeks

Eligibility

Ages Eligible for Study:	18 Years and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Inclusion Criteria:

The patient has confirmed acid α-glucosidase [GAA] enzyme deficiency from any tissue source and/or confirmed GAA gene mutations and without known cardiac hypertrophy.
The patient is able to ambulate a distance without stopping and without an assistive device. Use of assistive device for community ambulation is appropriate.
The patient has a certain forced vital capacity (FVC) in upright position.
The patient, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin [β-hCG]) at baseline.

Exclusion Criteria:

The patient has had previous treatment with enzyme replacement therapy (ERT).
The patient is wheelchair dependent.
The patient requires invasive-ventilation (non-invasive ventilation is allowed).
The patient is participating in another clinical study using investigational treatment.
The patient cannot submit to magnetic resonance imaging (MRI) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc.
The patient, in the opinion of the Investigator, is unable to adhere to the requirements of the study.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01288027

Contacts

Contact: Medical Information	800-745-4447	medinfo@genzyme.com
Contact: Medical Information	617-252-7832	medinfo@genzyme.com

Locations

United States, California
	Recruiting
Orange, California, United States
United States, Florida
	Recruiting
Gainesville, Florida, United States
United States, Kansas
	Recruiting
Kansas City, Kansas, United States
United States, Missouri
	Recruiting
St. Louis, Missouri, United States
United States, New York
	Recruiting
New York, New York, United States
United States, North Carolina
	Recruiting
Durham, North Carolina, United States
United States, Ohio
	Recruiting
Columbus, Ohio, United States
United States, Pennsylvania
	Recruiting
Heshey, Pennsylvania, United States
United States, Virginia
	Recruiting
Fairfax, Virginia, United States
Germany
	Recruiting
Mainz, Germany
	Recruiting
Munster, Germany
	Recruiting
München, Germany
Netherlands
	Recruiting
Rotterdam, Netherlands
United Kingdom
	Recruiting
Newcastle upon Tyne, United Kingdom
	Recruiting
Salford, United Kingdom

Sponsors and Collaborators

Genzyme

Investigators

Study Director:

Medical Monitor

Genzyme

More Information

No publications provided

Responsible Party:	Genzyme
ClinicalTrials.gov Identifier:	NCT01288027 History of Changes
Other Study ID Numbers:	AGLU07310, 2010-020611-36
Study First Received:	January 27, 2011
Last Updated:	April 4, 2013
Health Authority:	United States: Food and Drug Administration European Union: European Medicines Agency

Additional relevant MeSH terms:

Glycogen Storage Disease Type II
Glycogen Storage Disease
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
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases

ClinicalTrials.gov processed this record on May 19, 2013

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