Recruiting

Observational Study

Sponsor:

Yale University

Code:

NCT07758816

Conditions

Gaucher Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT07758816

Start date

May 6, 2026

Status verified date

Aug, 2026

Completion date

Sep, 2030

Anticipated

Primary completion date

Sep, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

30 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Change in pulmonary and lymphatic Gaucher disease burden [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Change in oxygen requirements [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Change in pulmonary function measures [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Change in bone marrow infiltration [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Number of participants that develop or have progression of avascular necrosis [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Change in bone mineral density [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Number of participants with fractures or acute bone crisis [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Change in neurologic manifestations [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • DaTscan score [ Time Frame: Baseline, 6, 12, 24, and 36 months ]
  • Mean concentration neurofilament light-chain (NfL) trajectories [ Time Frame: Baseline, 6, 12, 24, and 36 months ]

Central Contacts and Locations

Central contacts

Pramod Yang, BS, CCRG

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

Pramod K. Mistry, MD, PhD

2036057878pramod.mistry@yale.edu

Locations

Yale New Haven Health System

Recruiting

New Haven, Connecticut, United States, 06520

More Information

Sponsor

Yale University

Last update posted

Aug 11, 2026

Last verified

Aug, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Yale University on 2026-08-11.