Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy - Full Text View

Sponsor:	Amicus Therapeutics
Information provided by:	Amicus Therapeutics
ClinicalTrials.gov Identifier:	NCT00433147

Purpose

Gaucher disease is a lysosomal storage disorder resulting from a deficiency in the key enzyme beta-glucocerebrosidase (GCase). The enzyme deficiency is caused by genetic mutations, which can result in the production of misfolded GCase. AT2101 is designed to act as a pharmacological chaperone by selectively binding to the misfolded GCase and helping it fold correctly, which may restore GCase activity.

This study is being conducted to test the safety of AT2101 in patients with type 1 Gaucher disease already receiving enzyme replacement therapy (ERT). The study will involve six visits over a period of 7 weeks and will evaluate the safety of AT2101.

Condition	Intervention	Phase
Gaucher Disease, Type 1	Drug: AT2101	Phase II

Study Type:	Interventional
Study Design:	Allocation: Randomized Endpoint Classification: Safety Study Intervention Model: Parallel Assignment Masking: Open Label Primary Purpose: Treatment
Official Title:	A Randomized, Open-label Study to Assess the Safety and Tolerability of Multiple Dose Levels and Multiple Dosing Regimens of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving ERT

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Farber lipogranulomatosis Gaucher disease Schindler disease succinic semialdehyde dehydrogenase deficiency

MedlinePlus related topics: Gaucher's Disease

U.S. FDA Resources

Further study details as provided by Amicus Therapeutics:

Primary Outcome Measures:

The primary objective of the study is to evaluate the safety of AT2101. [ Time Frame: 4 weeks ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:

The secondary objective of the study is to assess pharmacodynamic effects of AT2101, including beta-glucocerebrosidase (GCase), glucocerebroside (GlcCer), chitotriosidase, and pulmonary and activation regulated chemokine (PARC). [ Time Frame: 4 weeks ] [ Designated as safety issue: Yes ]

Estimated Enrollment:	32
Study Start Date:	February 2007
Study Completion Date:	March 2008
Primary Completion Date:	February 2008 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
Experimental: 1 AT2101 dose group 1	Drug: AT2101 AT2101 25 mg orally once a day (25 mg capsule), AT2101 150mg (six 25 mg capsules)once a day, AT2101 150mg once every fourth day, or AT2101 150 mg once per week for 28 days.
Experimental: 2 AT2101 dose group 2	Drug: AT2101 AT2101 25 mg orally once a day (25 mg capsule), AT2101 150mg (six 25 mg capsules)once a day, AT2101 150mg once every fourth day, or AT2101 150 mg once per week for 28 days.
Experimental: 3 AT2101 dose group 3	Drug: AT2101 AT2101 25 mg orally once a day (25 mg capsule), AT2101 150mg (six 25 mg capsules)once a day, AT2101 150mg once every fourth day, or AT2101 150 mg once per week for 28 days.
Experimental: 4 AT2101 dose group 4	Drug: AT2101 AT2101 25 mg orally once a day (25 mg capsule), AT2101 150mg (six 25 mg capsules)once a day, AT2101 150mg once every fourth day, or AT2101 150 mg once per week for 28 days.

Eligibility

Ages Eligible for Study:	18 Years to 65 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Inclusion Criteria:

Have a confirmed diagnosis of type 1 Gaucher disease with a documented gene mutation
Clinically stable
Male or female subjects, 18 to 65 years old
All subjects of childbearing potential must be using adequate birth control
Body mass index (BMI) between 18 and 30 kg/m2 and weighing at least 60 kg for males and 52 kg for females
Provide written informed consent to participate in the study

Exclusion Criteria:

Clinically significant disease, severe complications from Gaucher disease, or serious illness that may preclude participation in the study in the opinion of the Investigator that would compromise the safety of the subject or preclude the subject from completing the study
During the screening period, any clinically significant findings, as deemed by the investigator
Partial or total splenectomy (removal of spleen)
History of pulmonary hypertension or Gaucher related lung disease
History of allergy or sensitivity to the study drug or any excipients, including any prior serious adverse reaction to iminosugars (e.g., N-butyldeoxynojirimycin or miglustat)
Pregnant or breast-feeding
Current/recent drug or alcohol abuse
Treatment with any investigational product in the 90 days before study entry
Treatment in the previous 90 days with any drug known to have a well defined potential for toxicity to a major organ
Presence or symptoms of gastrointestinal, liver or kidney disease, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00433147

Locations

United States, California
University of California San Francisco
San Francisco, California, United States, 94143-0748
United States, Florida
University Research Foundation for Lysosomal Storage Diseases, Inc
Coral Springs, Florida, United States, 33065
United States, Georgia
Emory University Lysosomal Storage Disease Center
Decatur, Georgia, United States, 30033
United States, Iowa
University of Iowa Health Center
Iowa City, Iowa, United States, 52242
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
United States, New York
New York University School of Medicine
New York, New York, United States, 10016
United States, Ohio
Lysosomal Disease Center
Cincinnati, Ohio, United States, 45229
United States, Oregon
Oregon Health and Science University
Portland, Oregon, United States, 97239
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030

Sponsors and Collaborators

Amicus Therapeutics

Investigators

Study Director:

Eugene Schneider, MD

Amicus Therapeutics

More Information

No publications provided

Responsible Party:	Eugene Schneider, Amicus Therapeutics
ClinicalTrials.gov Identifier:	NCT00433147 History of Changes
Other Study ID Numbers:	GAU-CL-201
Study First Received:	February 7, 2007
Last Updated:	August 17, 2010
Health Authority:	United States: Food and Drug Administration

Additional relevant MeSH terms:

Gaucher Disease
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on February 09, 2012