Longitudinal Study of Neurodegenerative Disorders

February 4, 2026 updated by: Deepa Soundara Rajan, University of Pittsburgh
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 Overview

Status

Recruiting

Conditions

Intervention / Treatment

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

Enrollment (Estimated)

1500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15224
        • Recruiting
        • UPMC Children's Hospital of Pittsburgh
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Persons with genetic neurodegenerative diseases.

Description

Inclusion Criteria:

  • Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

  • none

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cognitive development
Time Frame: 15 years
Repeated standardized age equivalent scores.
15 years
Language development
Time Frame: 15 years
Repeated standardized age equivalent scores.
15 years
Gross Motor development .
Time Frame: 15 years
Repeated standardized age equivalent scores.
15 years
Fine Motor development
Time Frame: 15 years
Repeated standardized age equivalent scores.
15 years
Adaptive living skills
Time Frame: 15 years
Repeated standardized age equivalent scores.
15 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Exploratory biomarkers
Time Frame: 15 years
Blood, CSF and urine
15 years
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
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Pittsburgh

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 11, 2012

Primary Completion (Estimated)

January 1, 2030

Study Completion (Estimated)

January 1, 2035

Study Registration Dates

First Submitted

April 24, 2017

First Submitted That Met QC Criteria

November 3, 2017

First Posted (Actual)

November 6, 2017

Study Record Updates

Last Update Posted (Actual)

February 9, 2026

Last Update Submitted That Met QC Criteria

February 4, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • STUDY19020318

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

The IPD will be shared after review and only under a DTA, CDA through our office of research.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Lysosomal Storage Diseases

Clinical Trials on Palliative Care

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Costa Rica

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe