Longitudinal Study of Neurodegenerative Disorders

Overview

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: January 2030

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.

Interventions

  • 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.

Clinical Trial Outcome Measures

Primary Measures

  • 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.

Secondary Measures

  • 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

Participating in This Clinical Trial

Inclusion Criteria

  • Any patient with a genetic neurodegenerative disorder Exclusion Criteria:

  • none

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University of Pittsburgh
  • Provider of Information About this Clinical Study
    • Principal Investigator: Maria Escolar, Director, Program for the Study of Neurodevelopment in Rare Disorders Children’s Hospital of Pittsburgh of UPMC – University of Pittsburgh
  • Overall Contact(s)
    • Jodi Martin, 412-692-6351, sausjl@upmc.edu

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