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NCT Number: NCT03190837

A Long-term Follow-up Study of Gaucher Disease

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.

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Key information

Conditions

Gaucher Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Observational

Primary location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location status: Recruiting

About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Diagnosis of Gaucher Disease

Exclusion criteria

  • Not meeting Inclusion criteria

Treatment and study plan

Primary outcomes

  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 outcomes

  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.

Study contacts

Contact information is provided by the study sponsor or research team.

Janet Blount

CONTACT

[email protected]

919-681-7962

Sponsors and collaborators

Lead sponsor

Duke University

Other

Registry information

Important dates

Study start
2017
Primary completion
2027
Study completion
2027
First posted
Jun 19, 2017
Registry last updated
Sep 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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