Longitudinal Study of Neurodegenerative Disorders

Recruiting

• Conditions: Vanishing White Matter Disease; Gaucher Disease; GAN; S-Adenosylhomocysteine Hydrolase Deficiency; Batten Disease; Tay-Sachs Disease; Lysosomal Storage Diseases; Multiple Sulfatase Deficiency Disease; Krabbe Disease; PKAN

• Registration Number: NCT03333200
• Lead Sponsor: 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.

Study Timeline

• Study Start: 2012-01-11
• Study First Submitted: 2017-04-24
• Study First Submitted QC: 2017-11-03
• Study First Posted: 2017-11-06
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-04
• Last Update Posted: 2025-03-07
• Primary Completion: 2030-01
• Study Completion: 2035-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1500

Inclusion Criteria

• Any patient with a genetic neurodegenerative disorder

Exclusion Criteria

• none

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Language development	15 years	Repeated standardized age equivalent scores.
Adaptive living skills	15 years	Repeated standardized age equivalent scores.
Cognitive development	15 years	Repeated standardized age equivalent scores.
Fine Motor development	15 years	Repeated standardized age equivalent scores.
Gross Motor development .	15 years	Repeated standardized age equivalent scores.

Secondary Outcome Measures

Name	Time	Method
Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age	5 years	Specialized technique to use DTI data to measure brain degeneration over time
Exploratory biomarkers	15 years	Blood, CSF and urine

Trial Locations

Locations (1)

UPMC Children's Hospital of Pittsburgh; 🇺🇸 Pittsburgh, Pennsylvania, United States