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NCT Number: NCT07758816

Advancing Integrated Therapies for Gaucher 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

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Key information

Conditions

Gaucher Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Age range

3 month–75 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Yale New Haven Health System

New Haven, Connecticut, 06520, United States

Location status: Recruiting

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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;

  2. Change in oxygen requirements

    Time frame: Baseline, 6, 12, 24, and 36 months

    Mean oxygen saturation (SpO₂)

  3. Change in pulmonary function measures

    Time frame: Baseline, 6, 12, 24, and 36 months

    Changed in forced vital capacity and diffusion capacity

  4. Change in bone marrow infiltration

    Time frame: Baseline, 6, 12, 24, and 36 months

    Change in bone marrow infiltration on MRI

  5. 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

  6. 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.

  7. 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

  8. Change in neurologic manifestations

    Time frame: Baseline, 6, 12, 24, and 36 months

    Change in motor and non-motor neurologic manifestations

  9. 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.

  10. 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

Secondary outcomes

  1. Mean change glucosylsphingosine concentration

    Time frame: Baseline, 6, 12, 24, and 36 months

    Mean change glucosylsphingosine concentration pg/ml

  2. Mean change chitotriosidase activity

    Time frame: Baseline, 6, 12, 24, and 36 months

    Mean change glucosylsphingosine concentration pg/ml

  3. Mean change Glycoprotein Non-Metastatic Melanoma Protein B (gpNMB)

    Time frame: Baseline, 6, 12, 24, and 36 months

    Mean change glucosylsphingosine concentration pg/ml

  4. Mean change complement activation markers

    Time frame: Baseline, 6, 12, 24, and 36 months

    Mean change complement activation markers concentration pg/ml

  5. Mean change circulating inflammatory cytokine

    Time frame: Baseline, 6, 12, 24, and 36 months

    Mean change circulating inflammatory cytokine concentration pg/ml

  6. Association between biomarker trajectories and clinical or imaging outcomes

    Time frame: Baseline,12 and 36 months

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Pramod K. Mistry, MD, PhD

CONTACT

[email protected]

2036057878

Pramod Yang, BS, CCRG

CONTACT

[email protected]

203-785-3412

Sponsors and collaborators

Lead sponsor

Yale University

Other

Collaborators

  • Sanofi-Yale External Research Collaboration

Registry information

Official study title

Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease

Important dates

Study start
2026
Primary completion
2030
Study completion
2030
First posted
Aug 11, 2026
Registry last updated
Aug 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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