NCT03190837

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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
8mo left

Started Jun 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress93%
Jun 2017Jan 2027

First Submitted

Initial submission to the registry

May 26, 2017

Completed
17 days until next milestone

Study Start

First participant enrolled

June 12, 2017

Completed
7 days until next milestone

First Posted

Study publicly available on registry

June 19, 2017

Completed
9.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2027

Last Updated

September 22, 2025

Status Verified

September 1, 2025

Enrollment Period

9.6 years

First QC Date

May 26, 2017

Last Update Submit

September 16, 2025

Conditions

Gaucher Disease

Keywords

gauchergaucher disease

Outcome Measures

Primary Outcomes (1)

  • Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.

    Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.

    10 years

Secondary Outcomes (7)

  • Document adverse events subjects experience on enzyme replacement therapy

    10 years

  • Document adverse events of subjects on substrate reduction therapy

    10 years

  • Document long-term complications in Gaucher Disease.

    10 years

  • Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.

    10 years

  • Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.

    10 years

  • +2 more secondary outcomes

Eligibility Criteria

Sexall
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • Diagnosis of Gaucher Disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

RECRUITING

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Priya Kishnani, MD

    Duke University

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Janet Blount

CONTACT

919-681-7962janet.blount@duke.edu

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 26, 2017

First Posted

June 19, 2017

Study Start

June 12, 2017

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Last Updated

September 22, 2025

Record last verified: 2025-09

Data Sharing

IPD Sharing
Will not share

Locations

US(1)