An observational study in Gaucher Disease, sponsored by Duke University. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-09-03.
Sponsored by Duke University · Observational
Among 92 studies in Gaucher Disease with a site in United States — 20 open to participants now, 27 under way, 2 of them phase 3. Gaucher Disease · United States.
Among the 92 studies in Gaucher Disease with a site in United States, this one is the 11th largest by planned enrollment of the 39 observational ones, is one of 2 that started in 2017, is one of 39 observational ones, reaches primary completion later than 11 of the 25 other live ones, and was the 59th registered.
177 studies on the registry are indexed under Gaucher Disease; 41 are open to participants now.
This study's planned enrollment of 200 is above the median of 63 across 67 observational studies indexed under Gaucher Disease.
Browse Gaucher Disease studies →20 of the 92 studies in Gaucher Disease with a site in United States are open now, in 12 countries. Each count lists the studies.
Of the 26 Gaucher Disease studies recruiting now, 11 (42%) set no upper age limit and 11 (42%) stop at 75 or younger; 15 take children under 18; 4 take healthy volunteers.
This study: all sexes.
The full table on the hub →92 studies; the count open now beside each. This study's row is marked.
First in 1988; this study’s year is marked. 2 started in 2017.
Median enrollment 30 across the 51 interventional studies, 60 across the 39 observational. Of the 50 that completed or were terminated, 20 (40%) have results posted.
45 of 92 have an industry lead sponsor. The 10 most frequent:
Duke University is the lead sponsor of 2,063 studies on the registry; 273 are open to participants now.
Of its 204 completed or terminated interventional studies of FDA-regulated products, 167 (82%) have results posted.
Duke University has 1 study filed under Gaucher Disease — fewer than ten, so there is no comparison to draw.
5 of the studies in Gaucher Disease with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT01962415Paul SzabolcsReduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT | 2026-11 |
| NCT02437396University of MinnesotaOxidative Stress and Inflammatory Biomarkers in Gaucher Disease | 2026-12-31 |
| NCT05586243University of MinnesotaMAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3) | 2026-12-31 |
| NCT05843552University of MinnesotaExtracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease | 2026-12-31 |
| NCT04411654Prevail TherapeuticsPhase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE) | 2027-02 |
Among the 92 studies in Gaucher Disease with a site in United States, from their registry updates:
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.
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.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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.
Time frame: 10 years
Document adverse events subjects experience on enzyme replacement therapy
Use Gaucher patient's therapy history to understand effects of enzyme replacement therapy long term.
Time frame: 10 years
Document adverse events of subjects on substrate reduction therapy
Use Gaucher patient's therapy history to understand effects of substrate reduction therapy long term.
Time frame: 10 years
Document long-term complications in Gaucher Disease.
Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease.
Time frame: 10 years
Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.
We will use the SF-36 that will be collected every 6 months to 1 year to assess quality-of-life in Gaucher patients.
Time frame: 10 years
Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.
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.
Time frame: 10 years
Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam
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.
Time frame: 10 years
Change in Parkinson's checklist collected every 6 months/1 year.
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.
Time frame: 10 years
Plan to share: No
No publications or documents are linked to this record.
Started Jun 2017 (actual). Primary completion is estimated for Jan 2028, 127 months after the start.
How these figures are worked out, and which studies are left out of them.
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