An observational study in Gaucher Disease, sponsored by Yale University. Recruiting at 1 site in United States. Open to participants aged 3 Months to 75 Years. Per ClinicalTrials.gov, last updated 2026-08-11.
Sponsored by Yale 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 28th largest by planned enrollment of the 39 observational ones, is one of 3 that started in 2026, is one of 39 observational ones, reaches primary completion later than 19 of the 25 other live ones, and was the 91st registered.
177 studies on the registry are indexed under Gaucher Disease; 41 are open to participants now.
This study's planned enrollment of 30 is below 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: 3 Months to 75 Years · all sexes · no healthy volunteers.
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. 3 started in 2026.
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:
Yale University is the lead sponsor of 1,770 studies on the registry; 294 are open to participants now.
Of its 221 completed or terminated interventional studies of FDA-regulated products, 129 (58%) have results posted.
Yale 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 purpose of this study is to better understand the natural history, clinical outcomes, and biological features of Gaucher disease in patients receiving standard medical care
To define clinical trajectories, biomarkers, and mechanistic correlates of persistent or progressive disease in patients with Gaucher disease receiving standard-of-care therapy.
Type 1 Gaucher Disease (Non-Neuronopathic) (GD1)
Type 2 Gaucher Disease (Acute Neuronopathic) (GD2)
Type 3 Gaucher Disease (Chronic Neuronopathic) (GD3)
Specific Aim 1 To characterize pulmonary disease and massive lymphadenopathy in patients with neuronopathic Gaucher disease (GD2-GD3) under standard-of-care therapy.
Specific Aim 2 To define determinants of refractory skeletal disease in Gaucher disease using longitudinal clinical observation integrated with patient-derived cellular models.
Specific Aim 3 To investigate Gaucher-Parkinson overlap as a model of lipid-mediated neurodegeneration using parallel clinical and mechanistic analyses
Neuronopathic Gaucher Disease, Refractory Skeletal Disease Gaucher patients, Gaucher-Parkinson Overlap
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.
Aim 1
Aim2
Aim3
Exclusion Criteria:
Aim 1
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants with GD2 or GD3 and documented pulmonary disease and/or massive lymphadenopathy.
Participants with GD1 or GD3, ages 10-75, with persistent skeletal disease despite long-term therapy.
Adult participants only with Gaucher disease and clinical features of Parkinson disease.
Change in pulmonary and lymphatic Gaucher disease burden
Within-participant change from baseline in the extent of pulmonary infiltrates and/or lymphadenopathy on chest CT or MRI;
Time frame: Baseline, 6, 12, 24, and 36 months
Change in oxygen requirements
Mean oxygen saturation (SpO₂)
Time frame: Baseline, 6, 12, 24, and 36 months
Change in pulmonary function measures
Changed in forced vital capacity and diffusion capacity
Time frame: Baseline, 6, 12, 24, and 36 months
Change in bone marrow infiltration
Change in bone marrow infiltration on MRI
Time frame: Baseline, 6, 12, 24, and 36 months
Number of participants that develop or have progression of avascular necrosis
Number of participants that develop or have progression of avascular necrosis on MRI
Time frame: Baseline, 6, 12, 24, and 36 months
Change in bone mineral density
Change in bone mineral density measured by DEXA Z-score. Above -2.0: Normal. -2.0 or Lower: Below the expected range.
Time frame: Baseline, 6, 12, 24, and 36 months
Number of participants with fractures or acute bone crisis
Number of participants with fractures or acute bone crisis
Time frame: Baseline, 6, 12, 24, and 36 months
Change in neurologic manifestations
Change in motor and non-motor neurologic manifestations
Time frame: Baseline, 6, 12, 24, and 36 months
DaTscan score
Z-Score Between 0 and -1 is normal, Z-score between -1.5 to -1.8 or lower is abnormal.
Time frame: Baseline, 6, 12, 24, and 36 months
Mean concentration neurofilament light-chain (NfL) trajectories
Mean concentration neurofilament light-chain (NfL) trajectories in pg/ml
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change glucosylsphingosine concentration
Mean change glucosylsphingosine concentration pg/ml
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change chitotriosidase activity
Mean change glucosylsphingosine concentration pg/ml
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change Glycoprotein Non-Metastatic Melanoma Protein B (gpNMB)
Mean change glucosylsphingosine concentration pg/ml
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change complement activation markers
Mean change complement activation markers concentration pg/ml
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change circulating inflammatory cytokine
Mean change circulating inflammatory cytokine concentration pg/ml
Time frame: Baseline, 6, 12, 24, and 36 months
Association between biomarker trajectories and clinical or imaging outcomes
Association between biomarker trajectories and clinical or imaging outcomes evaluated using correlation and longitudinal regression approaches. These are separate cohort-specific measurements and are not intended to constitute a single validated composite score. Imaging and pulmonary-function measurements will be included when clinically obtained or feasible, consistent with the observational nature of the study.
Time frame: Baseline,12 and 36 months
Plan to share: No
No publications or documents are linked to this record.
Started May 2026 (actual). Primary completion is estimated for Sep 2030, 52 months after the start.
How these figures are worked out, and which studies are left out of them.
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