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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
Sponsor:
Information provided by (Responsible Party):
Maria Escolar, University of Pittsburgh

April 24, 2017
November 6, 2017
February 1, 2018
January 11, 2012
January 2030   (Final data collection date for primary outcome measure)
  • 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.
Same as current
Complete list of historical versions of study NCT03333200 on ClinicalTrials.gov Archive Site
  • 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
Same as current
Not Provided
Not Provided
 
Longitudinal Study of Neurodegenerative Disorders
Longitudinal Study of Neurodegenerative Disorders
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.
Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
NDRD Biorepository includes: blood plasma and serum, CSF, brain and other tissues
Non-Probability Sample
Persons with genetic neurodegenerative diseases.
  • 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
    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.
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1500
Same as current
January 2035
January 2030   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact: Mary Brannaman, MS 412-692-6350 Mary.Brannaman@chp.edu
Contact: Maria Escolar, MD, MS 412-692-6350 maria.escolar@chp.edu
United States
 
 
NCT03333200
PRO11050036
No
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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.
Maria Escolar, University of Pittsburgh
University of Pittsburgh
Not Provided
Not Provided
University of Pittsburgh
January 2018