Advancing Integrated Therapies for Gaucher Disease

NCT07758816 | Recruiting

• 1 other identifier: 2000042004
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (10)

• 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;

  Baseline, 6, 12, 24, and 36 months

• Change in oxygen requirements

  Mean oxygen saturation (SpO₂)

  Baseline, 6, 12, 24, and 36 months

• Change in pulmonary function measures

  Changed in forced vital capacity and diffusion capacity

  Baseline, 6, 12, 24, and 36 months

• Change in bone marrow infiltration

  Change in bone marrow infiltration on MRI

  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

  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.

  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

  Baseline, 6, 12, 24, and 36 months

• Change in neurologic manifestations

  Change in motor and non-motor neurologic manifestations

  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.

  Baseline, 6, 12, 24, and 36 months

• Mean concentration neurofilament light-chain (NfL) trajectories

  Mean concentration neurofilament light-chain (NfL) trajectories in pg/ml

  Baseline, 6, 12, 24, and 36 months

Secondary Outcomes (6)

• Mean change glucosylsphingosine concentration

  Baseline, 6, 12, 24, and 36 months

• Mean change chitotriosidase activity

  Baseline, 6, 12, 24, and 36 months

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

  Baseline, 6, 12, 24, and 36 months

• Mean change complement activation markers

  Baseline, 6, 12, 24, and 36 months

• Mean change circulating inflammatory cytokine

  Baseline, 6, 12, 24, and 36 months

Study Arms (3)

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.

Eligibility Criteria

• Age: 3 Months - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Neuronopathic Gaucher Disease, Refractory Skeletal Disease Gaucher patients, Gaucher-Parkinson Overlap

You may qualify if:

• 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

You may not qualify if:

• Aim 1
• Inability to comply with observational follow-up
• Any condition that, in the investigator's judgment, precludes safe participation

Sponsors & Collaborators

• Yale University: lead
• Sanofi-Yale External Research Collaboration: collaborator

Study Sites (1)

Yale New Haven Health System

New Haven, Connecticut, 06520, United States

RECRUITING

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

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

Study Officials

• Pramod K Mistry, MD, PhD

  Yale University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Pramod Yang, BS, CCRG

CONTACT

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

Pramod K. Mistry, MD, PhD

CONTACT

2036057878; pramod.mistry@yale.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 5, 2026
• First Posted: August 11, 2026
• Study Start: May 6, 2026
• Primary Completion (Estimated): September 1, 2030
• Study Completion (Estimated): September 1, 2030
• Last Updated: August 11, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)