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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 : December 5, 2018
Sponsor:
Information provided by (Responsible Party):
Maria Escolar, University of Pittsburgh

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 Pre-specified Outcome Measures Not Provided
Original Other Pre-specified 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:

  • none
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