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Longitudinal Study of Neurodegenerative Disorders

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ClinicalTrials.gov Identifier: NCT03333200
Recruitment Status : Recruiting
First Posted : November 6, 2017
Last Update Posted : November 4, 2020
Sponsor:
Information provided by (Responsible Party):
Maria Escolar, University of Pittsburgh

Study Description
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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.

Condition or disease Intervention/treatment
MLD Krabbe Disease ALD MPS I MPS II MPS III Vanishing White Matter Disease GM3 Gangliosidosis PKAN Tay-Sachs Disease NP Deficiency Osteopetrosis Alpha-Mannosidosis Sandhoff Disease Niemann-Pick Diseases MPS IV Gaucher Disease GAN GM1 Gangliosidoses Morquio Disease S-Adenosylhomocysteine Hydrolase Deficiency Batten Disease Pelizaeus-Merzbacher Disease Leukodystrophy Lysosomal Storage Diseases Purine Nucleoside Phosphorylase Deficiency Multiple Sulfatase Deficiency Disease Other: Palliative Care Biological: Hematopoetic Stem Cell Transplantation

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 Design
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Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Longitudinal Study of Neurodegenerative Disorders
Actual Study Start Date : January 11, 2012
Estimated Primary Completion Date : January 2030
Estimated Study Completion Date : January 2035

Resource links provided by the National Library of Medicine

Genetic and Rare Diseases Information Center resources: Leukodystrophy Krabbe Disease Gaucher Disease Frontotemporal Dementia Frontotemporal Dementia, Ubiquitin-positive Primary Progressive Aphasia Semantic Dementia Gangliosidosis GM1 Gangliosidosis Beta-galactosidase-1 Deficiency Behavioral Variant of Frontotemporal Dementia Tay-Sachs Disease Sandhoff Disease Mucopolysaccharidosis Type III Neuronal Ceroid Lipofuscinosis Mucopolysaccharidosis Type I Mucopolysaccharidosis Type II Osteopetrosis Niemann-Pick Disease Niemann-Pick Disease Type A Mucopolysaccharidosis Type IIIA Hurler Syndrome Alpha-mannosidosis Mucopolysaccharidosis Type IV Mucopolysaccharidosis Type IVA Pelizaeus-Merzbacher Disease Purine Nucleoside Phosphorylase Deficiency Multiple Sulfatase Deficiency Leukoencephalopathy With Vanishing White Matter Niemann-Pick Disease Type C1 Adult Neuronal Ceroid Lipofuscinosis Mucopolysaccharidosis Sphingolipidosis

Groups and Cohorts
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Intervention Details:
  • Other: Palliative Care
    Collecting information about the natural progression of these diseases
  • Biological: Hematopoetic Stem Cell Transplantation
    Following patients who have received HSCT as part of their clinical care.

Outcome Measures
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Primary Outcome Measures :
  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 Outcome Measures :
  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


Biospecimen Retention:   Samples With DNA
NDRD Biorepository includes: blood plasma and serum, CSF, brain and other tissues

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Persons with genetic neurodegenerative diseases.
Criteria

Inclusion Criteria:

  • Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

  • none
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03333200


Contacts
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Contact: Jodi Martin 412-692-6351 sausjl@upmc.edu
Contact: Maria Escolar, MD, MS 412-692-6350 maria.escolar@chp.edu

Locations
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United States, Pennsylvania
The Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Jodi Martin    412-692-6351    sausjl@upmc.edu   
Contact: Maria Escolar, MD, MS       maria.escolar@chp.edu   
Principal Investigator: Maria L Escolar, MD,MS         
Sub-Investigator: Michele D. Poe, PhD         
Sponsors and Collaborators
University of Pittsburgh
More Information
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Responsible Party: Maria Escolar, Director, Program for the Study of Neurodevelopment in Rare Disorders Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh
ClinicalTrials.gov Identifier: NCT03333200    
Other Study ID Numbers: STUDY19020318
First Posted: November 6, 2017    Key Record Dates
Last Update Posted: November 4, 2020
Last Verified: November 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: The IPD will be shared after review and only under a DTA, CDA through our office of research.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Maria Escolar, University of Pittsburgh:
Pediatric
Rare
Neurodegenerative
Genetic
Neurodevelopment
Brain
MRI
 Biorepository
NDRD
Longitudinal
Cognitive
Motor
Language
Adaptive behavior
Additional relevant MeSH terms:
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Osteopetrosis
Gaucher Disease
Pick Disease of the Brain
Gangliosidoses
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Neuronal Ceroid-Lipofuscinoses
Neurodegenerative Diseases
Tay-Sachs Disease
Gangliosidosis, GM1
Sandhoff Disease
Leukodystrophy, Globoid Cell
Leukoencephalopathies
Pelizaeus-Merzbacher Disease
 Multiple Sulfatase Deficiency Disease
Lysosomal Storage Diseases
Mannosidase Deficiency Diseases
alpha-Mannosidosis
Mucopolysaccharidosis IV
Deficiency Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn