Gaucher DiseaseNCT00351156
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
An observational study of Gaucher Disease, run by Amicus Therapeutics at 7 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Gaucher Disease
- What is being tested?
- Blood sample
- Type of treatment
- Surgery or procedure
- How many people
- 50 participants
- Where
- 7 sitesUnited States
- Study dates
- Jul 2006to Mar 2007
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Gaucher disease
Who may be able to join
- Willing and able to provide written informed consent by subject or legal guardian
- Male or female of any age
- Confirmed diagnosis of Gaucher disease with known genotype
- 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
- Available medical records for collection of retrospective clinical information
Who cannot join
- Received any investigational product within 30 days prior to study entry
- Other significant disease or be otherwise unsuitable for the study, as determined by the investigator
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
United States7 sites
National Institute of Neurological Disorders and Stroke, NIH
Bethesda, Maryland, 20892
Lysosomal Disease Center, Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
University Research Foundation for Lysosomal Storage Diseases, Inc.
Coral Springs, Florida, 33065
Emory University Lysosomal Storage Disease Center
Decatur, Georgia, 30033
New York University School of Medicine, Neurogenetics Department
New York, New York, 10016
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
University of California - San Francisco
San Francisco, California, 94143
About this study
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
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.
Read the 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.
- Conditions
- Gaucher Disease
- Being tested
- Blood sample
- 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
- Medical subject headings
- Gaucher Disease, Lysosomal Storage Diseases, Metabolism, Inborn Errors, Metabolic Diseases, Sphingolipidoses, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleProcedure or surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2006 (estimated)
- Study startJul 2006
- Primary completionMar 2007
- Study completionMar 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 50 participants
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- Karin Ludwig, M.D., Study director, Amicus Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00351156
- Sponsor's protocol ID
- GAU-CL-001
- Status last verified
- Aug 2010
- First submitted
- 10 Jul 2006
- Last updated
- 19 Aug 2010
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT00351156
- Acronym / sponsor ID
- GAU-CL-001
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Study start
- Jul 2006
- Primary completion
- Mar 2007 (actual)
- Study completion
- Mar 2007 (actual)
- First posted
- 12 Jul 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Gaucher disease
Key inclusion criteria (5 listed)
- Willing and able to provide written informed consent by subject or legal guardian
- Male or female of any age
- Confirmed diagnosis of Gaucher disease with known genotype
- 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
- Available medical records for collection of retrospective clinical information
Key exclusion criteria (2 listed)
- Received any investigational product within 30 days prior to study entry
- Other significant disease or be otherwise unsuitable for the study, as determined by the investigator
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sample | Procedure or surgery | – |
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2010.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Karin Ludwig, M.D. study director
Amicus Therapeutics, Inc.
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by Amicus Therapeutics at 7 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Aug 2010. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2010.