Clinical trials: Gaucher Disease, open to volunteers
Parkinson Disease (PD), Type 1 Gaucher Disease
Parkinson's Disease in Type 1 Gaucher Disease
Parkinson's disease (PD) is an age-related movement disorder with a complex pathophysiology. Among the risk factors for PD, variants in beta-glucocerebrosidase (encoded by the gene GBA1) represent one of the most significant…
- Trial name
- NCT07886879
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
Lysosomal Storage Disorders, Gaucher Disease
Genetic Studies of Lysosomal Storage Disorders
The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease
- Trial name
- NCT00001215
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Gaucher Disease, Type 1, Healthy
Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that…
- Trial name
- NCT05253560
- Testing
- The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
- Where
- Israel
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center