Clinical trial NCT00351156: Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Official title: A Multicenter Study to Evaluate and Characterize the Ex Vivo Effect of Pharmacological Chaperone Therapy in Blood Cell Lines Derived From Patients With Gaucher Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Gaucher Disease
Keywords: Gaucher Disease
Gaucher Disease, Type 1
Gaucher Disease, Type 2
Gaucher Disease, Type 3
Neuronopathic Gaucher Disease
Non-Neuronopathic Gaucher Disease
Lysosomal Storage Disease
Metabolism, Inborn Errors
Metabolic Diseases
Sphingolipidoses
Genetic Diseases, Inborn
Lead sponsor: Amicus Therapeutics
Sponsor class: INDUSTRY
First posted: 2006-07-12
Enrollment: 50
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with Gaucher disease

Brief summary: The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different between people who have Gaucher disease and people who do not have Gaucher disease. This information may be useful in the future to help find new treatments for Gaucher disease.

Detailed description: This study is designed to evaluate the ex vivo response to pharmacological chaperone therapy by testing blood samples from previously treated and untreated patients with Gaucher disease. The study will include patients with non-neuropathic Gaucher disease (type I) and neuropathic Gaucher disease (types II and/or III).

All subjects will participate in one study visit. Clinical information will be collected retrospectively from medical records. Information collected will include Gaucher disease diagnosis and history, medical history, family history, assessments of clinical severity, and genotype. A blood sample will be collected and various cells will be isolated for laboratory testing and research.

Eligibility criteria: Inclusion Criteria:

1. Willing and able to provide written informed consent by subject or legal guardian
2. Male or female of any age
3. Confirmed diagnosis of Gaucher disease with known genotype
4. Clinically stable and either treatment naïve or on a stable dose of enzyme replacement therapy and/or substrate reduction therapy for at least 6 months prior to study entry
5. Available medical records for collection of retrospective clinical information

Exclusion Criteria:

1. Received any investigational product within 30 days prior to study entry
2. Other significant disease or be otherwise unsuitable for the study, as determined by the investigator

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: University of California - San Francisco
state: California
city: Coral Springs
country: United States
facility: University Research Foundation for Lysosomal Storage Diseases, Inc.
state: Florida
city: Decatur
country: United States
facility: Emory University Lysosomal Storage Disease Center
state: Georgia
city: Bethesda
country: United States
facility: National Institute of Neurological Disorders and Stroke, NIH
state: Maryland
city: New York
country: United States
facility: New York University School of Medicine, Neurogenetics Department
state: New York
city: Cincinnati
country: United States
facility: Lysosomal Disease Center, Cincinnati Children's Hospital
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Amicus Therapeutics, Inc.
name: Karin Ludwig, M.D.
role: STUDY_DIRECTOR
References: