NCT07758816 · Yale University
Advancing Integrated Therapies for Gaucher Disease
What this study is about
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
View original scientific description
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
Primary outcome measures
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
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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) Aim2
- persistent skeletal disease despite long-term therapy Aim3
- Gaucher disease and clinical features of Parkinson disease
- Ability to provide informed consent
Exclusion criteria
- Inability to comply with observational follow-up
- Any condition that, in the investigator's judgment, precludes safe participation
Where
- New Haven, Connecticut
Collaborators
Sanofi-Yale External Research Collaboration
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Aug 11, 2026 · Source of record for eligibility and locations