Longitudinal Study of Neurodegenerative Disorders

Longitudinal Study of Neurodegenerative Disorders


Lead Sponsor: University of Pittsburgh

Source University of Pittsburgh
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.

Overall Status Recruiting
Start Date January 11, 2012
Completion Date January 2035
Primary Completion Date January 2030
Study Type Observational
Primary Outcome
Measure Time Frame
Cognitive development 15 years
Language development 15 years
Gross Motor development . 15 years
Fine Motor development 15 years
Adaptive living skills 15 years
Secondary Outcome
Measure Time Frame
Exploratory biomarkers 15 years
Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age 5 years
Enrollment 1500

Intervention Type: Other

Intervention Name: Palliative Care

Description: Collecting information about the natural progression of these diseases

Intervention Type: Biological

Intervention Name: Hematopoetic Stem Cell Transplantation

Description: Following patients who have received HSCT as part of their clinical care.


Sampling Method: Non-Probability Sample


Inclusion Criteria: - Any patient with a genetic neurodegenerative disorder Exclusion Criteria: - none

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Contact

Last Name: Jodi Martin

Phone: 412-692-6351

Email: [email protected]

Facility: Status: Contact: Contact Backup: Investigator: The Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC Jodi Martin 412-692-6351 [email protected] Maria L Escolar, MD,MS Principal Investigator Michele D. Poe, PhD Sub-Investigator
Location Countries

United States

Verification Date

November 2020

Responsible Party

Type: Principal Investigator

Investigator Affiliation: University of Pittsburgh

Investigator Full Name: Maria Escolar

Investigator Title: Director, Program for the Study of Neurodevelopment in Rare Disorders Children's Hospital of Pittsburgh of UPMC

Has Expanded Access No
Condition Browse
Patient Data Undecided
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov