Longitudinal Study of Neurodegenerative Disorders
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|ClinicalTrials.gov Identifier: NCT03333200|
Recruitment Status : Recruiting
First Posted : November 6, 2017
Last Update Posted : February 1, 2018
|Condition or disease||Intervention/treatment|
|MLD Krabbe Disease ALD MPS I MPS II MPS III Vanishing White Matter Disease GM3 Gangliosidosis PKAN Tay-Sachs Disease NP Deficiency Osteopetrosis Alpha-Mannosidosis Sandhoff Disease Niemann-Pick Diseases MPS IV Gaucher Disease GAN GM1 Gangliosidoses Morquio Disease S-Adenosylhomocysteine Hydrolase Deficiency Batten Disease Pelizaeus-Merzbacher Disease Leukodystrophy Lysosomal Storage Diseases Purine Nucleoside Phosphorylase Deficiency Multiple Sulfatase Deficiency Disease||Other: Palliative Care Biological: Hematopoetic Stem Cell Transplantation|
|Study Type :||Observational|
|Estimated Enrollment :||1500 participants|
|Official Title:||Longitudinal Study of Neurodegenerative Disorders|
|Actual Study Start Date :||January 11, 2012|
|Estimated Primary Completion Date :||January 2030|
|Estimated Study Completion Date :||January 2035|
Other: Palliative Care
- Cognitive development [ Time Frame: 15 years ]Repeated standardized age equivalent scores.
- Language development [ Time Frame: 15 years ]Repeated standardized age equivalent scores.
- Gross Motor development . [ Time Frame: 15 years ]Repeated standardized age equivalent scores.
- Fine Motor development [ Time Frame: 15 years ]Repeated standardized age equivalent scores.
- Adaptive living skills [ Time Frame: 15 years ]Repeated standardized age equivalent scores.
- Exploratory biomarkers [ Time Frame: 15 years ]Blood, CSF and urine
- Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age [ Time Frame: 5 years ]Specialized technique to use DTI data to measure brain degeneration over time
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03333200
|Contact: Mary Brannaman, MS||412-692-6350||Mary.Brannaman@chp.edu|
|Contact: Maria Escolar, MD, MSemail@example.com|
|United States, Pennsylvania|
|The Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC||Recruiting|
|Pittsburgh, Pennsylvania, United States, 15224|
|Contact: Mary Brannaman, MS 412-692-6350 Mary.Brannaman@chp.edu|
|Contact: Maria Escolar, MD, MS firstname.lastname@example.org|
|Principal Investigator: Maria L Escolar, MD,MS|
|Sub-Investigator: Michele D. Poe, PhD|