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.
Patients would be evaluated by a multidisciplinary team at specific time points every 3 months the first year, every 6 months the second year and once a year thereafter.
Study Type
OBSERVATIONAL
Enrollment
1,500
Collecting information about the natural progression of these diseases
Following patients who have received HSCT as part of their clinical care.
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States
RECRUITINGCognitive development
Repeated standardized age equivalent scores.
Time frame: 15 years
Language development
Repeated standardized age equivalent scores.
Time frame: 15 years
Gross Motor development .
Repeated standardized age equivalent scores.
Time frame: 15 years
Fine Motor development
Repeated standardized age equivalent scores.
Time frame: 15 years
Adaptive living skills
Repeated standardized age equivalent scores.
Time frame: 15 years
Exploratory biomarkers
Blood, CSF and urine
Time frame: 15 years
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
Time frame: 5 years
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