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NCT Number: NCT03333200

Longitudinal Study of Neurodegenerative Disorders

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.

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Key information

Conditions

MLD ALD Alpha-Mannosidosis Batten Disease Behavior Bone Diseases Bone Diseases, Developmental Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Communication Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Death Death, Sudden Demyelinating Diseases GAN GM1 Gangliosidoses GM3 Gangliosidosis Gangliosidoses Gangliosidoses, GM2 Gaucher Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Hemic and Lymphatic Diseases Hereditary Central Nervous System Demyelinating Diseases Heredodegenerative Disorders, Nervous System Histiocytosis Histiocytosis, Non-Langerhans-Cell Hypermethioninemia Infant Death Krabbe Disease Language Leukodystrophy Leukodystrophy, Globoid Cell Leukoencephalopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System MPS I MPS II MPS III MPS IV Mannosidase Deficiency Diseases Metabolic Diseases Metabolism, Inborn Errors Morquio Disease Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis III Mucopolysaccharidosis IV Multiple Sulfatase Deficiency Disease Musculoskeletal Diseases NP Deficiency Nervous System Diseases Neurodegenerative Diseases Neuronal Ceroid-Lipofuscinoses Niemann-Pick Diseases Nutritional and Metabolic Diseases Osteochondrodysplasias Osteopetrosis Osteosclerosis PKAN Pathologic Processes Pathological Conditions, Signs and Symptoms Pelizaeus-Merzbacher Disease Purine Nucleoside Phosphorylase Deficiency S-Adenosylhomocysteine Hydrolase Deficiency Sandhoff Disease Skin and Connective Tissue Diseases Sphingolipidoses Sudden Infant Death Sulfatidosis Tay-Sachs Disease Vanishing White Matter Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

Location status: Recruiting

Location contact

Deepa Rajan, MD

CONTACT

[email protected]

412-692-8388

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Any patient with a genetic neurodegenerative disorder

Exclusion criteria

  • none

Treatment and study plan

Palliative Care

Other

Collecting information about the natural progression of these diseases

Hematopoetic Stem Cell Transplantation

Biological

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

Primary outcomes

  1. Cognitive development

    Time frame: 15 years

    Repeated standardized age equivalent scores.

  2. Language development

    Time frame: 15 years

    Repeated standardized age equivalent scores.

  3. Gross Motor development .

    Time frame: 15 years

    Repeated standardized age equivalent scores.

  4. Fine Motor development

    Time frame: 15 years

    Repeated standardized age equivalent scores.

  5. Adaptive living skills

    Time frame: 15 years

    Repeated standardized age equivalent scores.

Secondary outcomes

  1. Exploratory biomarkers

    Time frame: 15 years

    Blood, CSF and urine

  2. 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

Study contacts

Contact information is provided by the study sponsor or research team.

Deepa Rajan, MD

CONTACT

[email protected]

412-692-8388

Sponsors and collaborators

Lead sponsor

University of Pittsburgh

Other

Registry information

Important dates

Study start
2012
Primary completion
2030
Study completion
2035
First posted
Nov 6, 2017
Registry last updated
Feb 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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