Longitudinal Study of Neurodegenerative Disorders
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03333200|
Recruitment Status : Recruiting
First Posted : November 6, 2017
Last Update Posted : November 4, 2020
|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
Collecting information about the natural progression of these diseases
- Biological: Hematopoetic Stem Cell Transplantation
Following patients who have received HSCT as part of their clinical 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03333200
|Contact: Jodi Martinfirstname.lastname@example.org|
|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: Jodi Martin 412-692-6351 firstname.lastname@example.org|
|Contact: Maria Escolar, MD, MS email@example.com|
|Principal Investigator: Maria L Escolar, MD,MS|
|Sub-Investigator: Michele D. Poe, PhD|