Longitudinal Study of Neurodegenerative Disorders

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03333200

Enrollment

1500

Registered

2017-11-06

Start date

2012-01-11

Completion date

2035-01-01

Last updated

2026-02-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

ALD, Alpha-Mannosidosis, Batten Disease, GAN, Gaucher Disease, GM1 Gangliosidoses, GM3 Gangliosidosis, Krabbe Disease, Leukodystrophy, Lysosomal Storage Diseases, MLD, Morquio Disease, MPS I, MPS II, MPS III, MPS IV, Multiple Sulfatase Deficiency Disease, Niemann-Pick Diseases, NP Deficiency, Osteopetrosis, Pelizaeus-Merzbacher Disease, PKAN, Purine Nucleoside Phosphorylase Deficiency, S-Adenosylhomocysteine Hydrolase Deficiency, Sandhoff Disease, Tay-Sachs Disease, Vanishing White Matter Disease

Keywords

Pediatric, Rare, Neurodegenerative, Genetic, Neurodevelopment, Brain, MRI, Biorepository, NDRD, Longitudinal, Cognitive, Motor, Language, Adaptive behavior

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.

Interventions

OTHERPalliative Care

Collecting information about the natural progression of these diseases

BIOLOGICALHematopoetic Stem Cell Transplantation

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

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Any patient with a genetic neurodegenerative disorder

Exclusion criteria

* none

Design outcomes

Primary

Measure	Time frame	Description
Cognitive development	15 years	Repeated standardized age equivalent scores.
Language development	15 years	Repeated standardized age equivalent scores.
Adaptive living skills	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

Measure	Time frame	Description
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

Countries

United States

Contacts

CONTACTDeepa Rajan, MD

rajands@upmc.edu412-692-8388

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 10, 2026