Gaucher Disease Clinical Trial
Official title:
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Status | Recruiting |
Enrollment | 1500 |
Est. completion date | January 2035 |
Est. primary completion date | January 2030 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Any patient with a genetic neurodegenerative disorder Exclusion Criteria: - none |
Country | Name | City | State |
---|---|---|---|
United States | UPMC Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
University of Pittsburgh |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Cognitive development | Repeated standardized age equivalent scores. | 15 years | |
Primary | Language development | Repeated standardized age equivalent scores. | 15 years | |
Primary | Gross Motor development . | Repeated standardized age equivalent scores. | 15 years | |
Primary | Fine Motor development | Repeated standardized age equivalent scores. | 15 years | |
Primary | Adaptive living skills | Repeated standardized age equivalent scores. | 15 years | |
Secondary | Exploratory biomarkers | Blood, CSF and urine | 15 years | |
Secondary | Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age | Specialized technique to use DTI data to measure brain degeneration over time | 5 years |
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