Longitudinal Study of Neurodegenerative Disorders

Tracking Information
First Submitted Date	April 24, 2017
First Posted Date	November 6, 2017
Last Update Posted Date	December 5, 2018
Actual Study Start Date	January 11, 2012
Estimated Primary Completion Date	January 2030 (Final data collection date for primary outcome measure)
Current Primary Outcome Measures; (submitted: November 3, 2017)	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.
Original Primary Outcome Measures	Same as current
Change History	Complete list of historical versions of study NCT03333200 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures; (submitted: November 3, 2017)	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
Original Secondary Outcome Measures	Same as current
Current Other Outcome Measures	Not Provided
Original Other Outcome Measures	Not Provided
Descriptive Information
Brief Title	Longitudinal Study of Neurodegenerative Disorders
Official Title	Longitudinal Study of Neurodegenerative Disorders
Brief Summary	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.
Detailed Description	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
Study Design	Observational Model: Cohort; Time Perspective: Prospective
Target Follow-Up Duration	Not Provided
Biospecimen	Retention: Samples With DNA; Description: NDRD Biorepository includes: blood plasma and serum, CSF, brain and other tissues
Sampling Method	Non-Probability Sample
Study Population	Persons with genetic neurodegenerative diseases.
Condition	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
Intervention	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.
Study Groups/Cohorts	Not Provided
Publications *	Not Provided
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status	Recruiting
Estimated Enrollment; (submitted: November 3, 2017)	1500
Original Estimated Enrollment	Same as current
Estimated Study Completion Date	January 2035
Estimated Primary Completion Date	January 2030 (Final data collection date for primary outcome measure)
Eligibility Criteria	Inclusion Criteria: Any patient with a genetic neurodegenerative disorder Exclusion Criteria:
Sex/Gender	Sexes Eligible for Study: All
Ages	Child, Adult, Older Adult
Accepts Healthy Volunteers	No
Contacts	Contact: Jodi Martin 412-692-6351 sausjl@upmc.edu Contact: Maria Escolar, MD, MS 412-692-6350 maria.escolar@chp.edu
Listed Location Countries	United States
Removed Location Countries
Administrative Information
NCT Number	NCT03333200
Other Study ID Numbers	PRO11050036
Has Data Monitoring Committee	No
U.S. FDA-regulated Product	Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement	Plan to Share IPD: Undecided Plan Description: The IPD will be shared after review and only under a DTA, CDA through our office of research.
Responsible Party	Maria Escolar, University of Pittsburgh
Study Sponsor	University of Pittsburgh
Collaborators	Not Provided
Investigators	Not Provided
PRS Account	University of Pittsburgh
Verification Date	December 2018