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A Long-term Follow-up Study of Gaucher Disease

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ClinicalTrials.gov Identifier: NCT03190837
Recruitment Status : Recruiting
First Posted : June 19, 2017
Last Update Posted : October 10, 2022
Sponsor:
Information provided by (Responsible Party):
Duke University

Study Description
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Brief Summary:
The study aims are to: a) identify the long-term natural history of Gaucher disease, b) evaluate long-term treatment efficacy of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), and c) identify potential long-term complications of this disorder. These aims will be accomplished through long-term record review of individuals with all three types of Gaucher disease.

Condition or disease
Gaucher Disease

Detailed Description:
The study aims (aims a-c) will be accomplished by the systematic monitoring of health records. Health information will be extracted from medical records for patients followed at Duke. Medical records will be requested from treating physicians outside of Duke. The PI, (Dr. Kishnani) a recognized expert in Gaucher disease, is a consultant to the treating physician of virtually all subjects in this study. Subject health status will be monitored at least on an annual basis and as regularly as the medical information is obtained from the treating physician. Enrollment in this study will not alter the standard of care treatment for patients with Gaucher disease.
Study Design
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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: A Long-term Follow-up Study of Gaucher Disease
Actual Study Start Date : June 12, 2017
Estimated Primary Completion Date : January 2027
Estimated Study Completion Date : January 2027

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Gaucher Disease

Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen. [ Time Frame: 10 years ]
    Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.


Secondary Outcome Measures :
  1. Document adverse events subjects experience on enzyme replacement therapy [ Time Frame: 10 years ]
    Use Gaucher patient's therapy history to understand effects of enzyme replacement therapy long term.

  2. Document adverse events of subjects on substrate reduction therapy [ Time Frame: 10 years ]
    Use Gaucher patient's therapy history to understand effects of substrate reduction therapy long term.

  3. Document long-term complications in Gaucher Disease. [ Time Frame: 10 years ]
    Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease.

  4. Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year. [ Time Frame: 10 years ]
    We will use the SF-36 that will be collected every 6 months to 1 year to assess quality-of-life in Gaucher patients.

  5. Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year. [ Time Frame: 10 years ]
    The investigators will use the Small Fiber Neuropathy Screening List every 6 months to 1 year to monitor small fiber neuropathy symptoms in Gaucher patients.

  6. Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam [ Time Frame: 10 years ]
    The investigators will use the Neurological follow-up exam, that will be performed at return visit and every 6 months to 1 year afterward, to screen patients for neurological symptoms related to Gaucher Disease.

  7. Change in Parkinson's checklist collected every 6 months/1 year. [ Time Frame: 10 years ]
    The investigators will use the Parkinson's checklist that will be collected every 6 months to 1 year to screen patients for Parkinson's symptoms potentially related to Gaucher Disease.


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
We will be recruiting patients with Gaucher Disease of all ages, followed at Duke University Medical Center, or non-Duke patients who have contacted Duke and expressed interest in participating.
Criteria

Inclusion Criteria:

  • Diagnosis of Gaucher Disease

Exclusion Criteria:

  • Not meeting Inclusion criteria
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03190837


Contacts
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Contact: Janet Blount 919-681-7962 janet.blount@duke.edu

Locations
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United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Sponsors and Collaborators
Duke University
Investigators
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Principal Investigator: Priya Kishnani, MD Duke University
More Information
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Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT03190837    
Other Study ID Numbers: Pro00081246
First Posted: June 19, 2017    Key Record Dates
Last Update Posted: October 10, 2022
Last Verified: September 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Duke University:
gaucher
gaucher disease
Additional relevant MeSH terms:
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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