UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224, United States
Location status: Recruiting
NCT Number: NCT03333200
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.
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Observational
Pittsburgh, Pennsylvania, 15224, United States
Location status: Recruiting
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.
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
Exclusion criteria
Collecting information about the natural progression of these diseases
Following patients who have received HSCT as part of their clinical care.
Time frame: 15 years
Repeated standardized age equivalent scores.
Time frame: 15 years
Repeated standardized age equivalent scores.
Time frame: 15 years
Repeated standardized age equivalent scores.
Time frame: 15 years
Repeated standardized age equivalent scores.
Time frame: 15 years
Repeated standardized age equivalent scores.
Time frame: 15 years
Blood, CSF and urine
Time frame: 5 years
Specialized technique to use DTI data to measure brain degeneration over time
Contact information is provided by the study sponsor or research team.
University of Pittsburgh
Other
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View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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