ClinicalTrials.gov record NCT07758816
Advancing Integrated Therapies for Gaucher Disease
Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This is a prospective observational study that follows people with Gaucher disease to better understand disease course and biological markers while they receive standard care. It includes cohorts focused on neuronopathic disease, refractory skeletal disease, and Gaucher-Parkinson overlap. Participants have clinical visits and tests at multiple time points over up to 36 months.
What it is studying. The study is measuring how signs, symptoms, imaging results, and blood biomarkers change over time in people with Gaucher disease. Specific interests are lung and lymphatic disease in neuronopathic Gaucher, causes of persistent skeletal disease despite treatment, and features linking Gaucher disease with Parkinson-like symptoms.
What the researchers hope to learn. To define clinical trajectories, biomarkers, and mechanistic correlates of persistent or progressive Gaucher disease under standard care; to characterize pulmonary disease and lymphadenopathy in neuronopathic Gaucher; to identify determinants of refractory skeletal disease using longitudinal observation and patient-derived cellular models; and to investigate Gaucher-Parkinson overlap as a model of lipid-mediated neurodegeneration.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
You would join one of three cohorts and be followed over time with assessments at baseline and commonly at 6, 12, 24, and 36 months. Assessments may include chest CT or MRI, bone MRI to look for marrow involvement or avascular necrosis, DEXA scans for bone density, DaTscan (a brain imaging test), oxygen saturation checks, and pulmonary function tests. Blood tests will be used to measure biomarkers named in the protocol (for example neurofilament light-chain, glucosylsphingosine, chitotriosidase, gpNMB, complement markers, and inflammatory cytokines). Imaging and pulmonary-function measurements will be included when clinically obtained or feasible; exact procedures and timing can vary by cohort and clinical judgment.
How the study is structured. A prospective observational cohort study (no experimental treatment). Participants are enrolled into one of three groups (neuronopathic Gaucher, refractory skeletal disease, Gaucher-Parkinson overlap) and followed at planned intervals (baseline, 6, 12, 24, and 36 months). Collected data include chest CT or MRI for lungs/lymph nodes, pulmonary function measures, MRI of bone marrow, DEXA bone density scans, DaTscan for Parkinson-type changes, and blood measurements of biomarkers such as neurofilament light-chain, glucosylsphingosine, chitotriosidase, gpNMB, complement markers, and inflammatory cytokines. Longitudinal clinical observation is integrated with laboratory work including patient-derived cellular models for some aims.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Gaucher disease
Important dates
- Study start
- May 6, 2026
- Primary completion
- September 2030 (estimated)
- Study completion
- September 2030 (estimated)
- Target enrollment
- 30 participants (estimated)
- Last updated on registry
- Aug 11, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Yale University
- Collaborators
- Sanofi-Yale External Research Collaboration
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Pramod Yang, BS, CCRG 📞 203-785-3412 ✉ Ruhua.Yang@yale.edu
- Pramod K. Mistry, MD, PhD 📞 2036057878 ✉ pramod.mistry@yale.edu
Participating sites (1)
- Yale New Haven Health SystemRecruiting
New Haven, Connecticut, 06520 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- assent
- A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
- follow-up
- The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- refractory
- A condition that has not responded to a treatment. 'Relapsed' means it responded and then came back; 'refractory' means it did not respond in the first place.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this website; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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