RecruitingNot Applicable

Advancing Integrated Therapies for Gaucher Disease

United States30 participantsStarted 2026-05-06

Plain-language 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

Who can participate

Age range

3 Months – 75 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: 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) 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 Exclusion Criteria: Aim 1 * Inability to comply with observational follow-up * Any condition that, in the investigator's judgment, precludes safe participation

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in pulmonary and lymphatic Gaucher disease burden

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in oxygen requirements

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in pulmonary function measures

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in bone marrow infiltration

Timeframe: Baseline, 6, 12, 24, and 36 months

Number of participants that develop or have progression of avascular necrosis

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in bone mineral density

Timeframe: Baseline, 6, 12, 24, and 36 months

Number of participants with fractures or acute bone crisis

Timeframe: Baseline, 6, 12, 24, and 36 months

Trial details

NCT IDNCT07758816

SponsorYale University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-09

Contact for this trial

Pramod Yang, BS, CCRG

203-785-3412 Ruhua.Yang@yale.edu

View on ClinicalTrials.gov More Gaucher Disease trials

Who can participate

Age range

3 Months – 75 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Change in pulmonary and lymphatic Gaucher disease burden

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in oxygen requirements

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in pulmonary function measures

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in bone marrow infiltration

Timeframe: Baseline, 6, 12, 24, and 36 months

Number of participants that develop or have progression of avascular necrosis

Timeframe: Baseline, 6, 12, 24, and 36 months

Change in bone mineral density

Timeframe: Baseline, 6, 12, 24, and 36 months

Number of participants with fractures or acute bone crisis

Timeframe: Baseline, 6, 12, 24, and 36 months