Advancing Integrated Therapies for Gaucher Disease

ConditionGaucher Disease

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age3-75

SponsorYale University

About this trial

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 criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

Inability to comply with observational follow-up

Any condition that, in the investigator's judgment, precludes safe participation

Trial population

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

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

30 Participants

are grouped into 3 trial groups

Group A: Neuronopathic Gaucher Disease

Group B: Refractory Skeletal Disease

Group C: Gaucher-Parkinson Overlap

Trial outcomes

Primary outcomes

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;

Time frame