Gaucher DiseaseNCT07758816
Advancing Integrated Therapies for Gaucher Disease
An observational study of Gaucher Disease, run by Yale University at 1 site in United States.
Trial summary
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 Read more about this study
- Who is it for?
- Ages 3 months to 75 years
- Conditions the study is for
- Gaucher Disease
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- 6 May 2026to Sep 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Neuronopathic Gaucher Disease, Refractory Skeletal Disease Gaucher patients, Gaucher-Parkinson Overlap
Who may be able to join
- Aim 1
- Confirmed diagnosis of GD2 or GD3 based on genotype and phenotype
- Evidence of pulmonary infiltrative disease and/or mediastinal or mesenteric lymphadenopathy
- Receiving or eligible for standard-of-care therapy
- Age ≥ 3 months
- Ability to provide informed consent (or parental consent with assent as appropriate)
Show all 12Show fewer
- Aim2
- ages 10-75
- persistent skeletal disease despite long-term therapy
- Aim3
- Gaucher disease and clinical features of Parkinson disease
- Ability to provide informed consent
Who cannot join
- Aim 1
- Inability to comply with observational follow-up
- Any condition that, in the investigator's judgment, precludes safe participation
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Yale New Haven Health System
New Haven, Connecticut, 06520
About this study
Official title: Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
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
Read the detailed description
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
- Conditions
- Gaucher Disease
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Neuronopathic Gaucher Disease | Participants with GD2 or GD3 and documented pulmonary disease and/or massive lymphadenopathy. | |
| Refractory Skeletal Disease | Participants with GD1 or GD3, ages 10-75, with persistent skeletal disease despite long-term therapy. | |
| Gaucher-Parkinson Overlap | Adult participants only with Gaucher disease and clinical features of Parkinson disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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;
Measured: Baseline, 6, 12, 24, and 36 months
Change in oxygen requirements
Mean oxygen saturation (SpO₂)
Measured: Baseline, 6, 12, 24, and 36 months
Change in pulmonary function measures
Changed in forced vital capacity and diffusion capacity
Measured: Baseline, 6, 12, 24, and 36 months
Change in bone marrow infiltration
Change in bone marrow infiltration on MRI
Measured: 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
Measured: 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.
Measured: 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
Measured: Baseline, 6, 12, 24, and 36 months
Change in neurologic manifestations
Change in motor and non-motor neurologic manifestations
Measured: 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.
Measured: Baseline, 6, 12, 24, and 36 months
Mean concentration neurofilament light-chain (NfL) trajectories
Mean concentration neurofilament light-chain (NfL) trajectories in pg/ml
Measured: Baseline, 6, 12, 24, and 36 months
Secondary outcomes (6)
Mean change glucosylsphingosine concentration
Mean change glucosylsphingosine concentration pg/ml
Measured: Baseline, 6, 12, 24, and 36 months
Mean change chitotriosidase activity
Mean change glucosylsphingosine concentration pg/ml
Measured: Baseline, 6, 12, 24, and 36 months
Mean change Glycoprotein Non-Metastatic Melanoma Protein B (gpNMB)
Mean change glucosylsphingosine concentration pg/ml
Measured: Baseline, 6, 12, 24, and 36 months
Mean change complement activation markers
Mean change complement activation markers concentration pg/ml
Measured: Baseline, 6, 12, 24, and 36 months
Mean change circulating inflammatory cytokine
Mean change circulating inflammatory cytokine concentration pg/ml
Measured: 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.
Measured: Baseline,12 and 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2026
- Study start6 May 2026
- Primary completionSep 2030 (estimated)
- Study completionSep 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- More trials run by Yale UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Yale University
- Sponsor type
- University, hospital or other
- Collaborators
- Sanofi-Yale External Research Collaboration
- Responsible party
- Sponsor
- Investigators
- Pramod K Mistry, MD, PhD, Principal investigator, Yale University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07758816
- Sponsor's protocol ID
- 2000042004
- Status last verified
- Aug 2026
- First submitted
- 5 Aug 2026
- Last updated
- 11 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
- ClinicalTrials.gov ID
- NCT07758816
- Acronym / sponsor ID
- 2000042004
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Yale UniversityUniversity, hospital or other
- Collaborators
- Sanofi-Yale External Research Collaboration
- Study start
- 6 May 2026 (actual)
- Primary completion
- Sep 2030 (estimated)
- Study completion
- Sep 2030 (estimated)
- First posted
- 11 Aug 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Detailed description
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Neuronopathic Gaucher Disease | – | –Participants with GD2 or GD3 and documented pulmonary disease and/or massive lymphadenopathy. |
| Refractory Skeletal Disease | – | –Participants with GD1 or GD3, ages 10-75, with persistent skeletal disease despite long-term therapy. |
| Gaucher-Parkinson Overlap | – | –Adult participants only with Gaucher disease and clinical features of Parkinson disease. |
Who may qualify
- Ages
- 3 months to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Neuronopathic Gaucher Disease, Refractory Skeletal Disease Gaucher patients, Gaucher-Parkinson Overlap
Key inclusion criteria (12 listed)
- Aim 1
- Confirmed diagnosis of GD2 or GD3 based on genotype and phenotype
- Evidence of pulmonary infiltrative disease and/or mediastinal or mesenteric lymphadenopathy
- Receiving or eligible for standard-of-care therapy
- Age ≥ 3 months
Key exclusion criteria (3 listed)
- Aim 1
- Inability to comply with observational follow-up
- Any condition that, in the investigator's judgment, precludes safe participation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in pulmonary and lymphatic Gaucher disease burden
Time frame: Baseline, 6, 12, 24, and 36 months
Within-participant change from baseline in the extent of pulmonary infiltrates and/or lymphadenopathy on chest CT or MRI;
Change in oxygen requirements
Time frame: Baseline, 6, 12, 24, and 36 months
Mean oxygen saturation (SpO₂)
Change in pulmonary function measures
Time frame: Baseline, 6, 12, 24, and 36 months
Changed in forced vital capacity and diffusion capacity
Change in bone marrow infiltration
Time frame: Baseline, 6, 12, 24, and 36 months
Change in bone marrow infiltration on MRI
Number of participants that develop or have progression of avascular necrosis
Time frame: Baseline, 6, 12, 24, and 36 months
Number of participants that develop or have progression of avascular necrosis on MRI
Change in bone mineral density
Time frame: Baseline, 6, 12, 24, and 36 months
Change in bone mineral density measured by DEXA Z-score. Above -2.0: Normal. -2.0 or Lower: Below the expected range.
Number of participants with fractures or acute bone crisis
Time frame: Baseline, 6, 12, 24, and 36 months
Number of participants with fractures or acute bone crisis
Change in neurologic manifestations
Time frame: Baseline, 6, 12, 24, and 36 months
Change in motor and non-motor neurologic manifestations
DaTscan score
Time frame: Baseline, 6, 12, 24, and 36 months
Z-Score Between 0 and -1 is normal, Z-score between -1.5 to -1.8 or lower is abnormal.
Mean concentration neurofilament light-chain (NfL) trajectories
Time frame: Baseline, 6, 12, 24, and 36 months
Mean concentration neurofilament light-chain (NfL) trajectories in pg/ml
6 secondary outcomes
Mean change glucosylsphingosine concentration
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change chitotriosidase activity
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change Glycoprotein Non-Metastatic Melanoma Protein B (gpNMB)
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change complement activation markers
Time frame: Baseline, 6, 12, 24, and 36 months
Mean change circulating inflammatory cytokine
Time frame: Baseline, 6, 12, 24, and 36 months
Association between biomarker trajectories and clinical or imaging outcomes
Time frame: Baseline,12 and 36 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Aug 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Pramod K Mistry, MD, PhD principal investigator
Yale University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by Yale University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pramod Yang, BS, CCRG (203-785-3412, Ruhua.Yang@yale.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in pulmonary and lymphatic Gaucher disease burden (time frame: Baseline, 6, 12, 24, and 36 months). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Aug 2026.