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Trial record 5 of 7 for:    Recruiting, Not yet recruiting, Available Studies | "Tay-Sachs Disease"

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 6, 2017
Information provided by (Responsible Party):

Study Description
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

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 Primary Progressive Aphasia Frontotemporal Dementia Frontotemporal Dementia, Ubiquitin-positive Pick's Disease Semantic Dementia Mucopolysaccharidosis Type II Gaucher Disease Niemann-Pick Disease Niemann-Pick Disease Type A Gangliosidosis Alpha-mannosidosis Osteopetrosis Tay-Sachs Disease Neuronal Ceroid Lipofuscinosis Krabbe Disease Sandhoff Disease GM1 Gangliosidosis Beta-galactosidase-1 Deficiency Pelizaeus-Merzbacher Disease Mucopolysaccharidosis Type IV Purine Nucleoside Phosphorylase Deficiency Leukoencephalopathy With Vanishing White Matter Multiple Sulfatase Deficiency Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IVA Mucopolysaccharidosis Type I Mucopolysaccharidosis Type IIIA Niemann-Pick Disease Type C1 Adult Neuronal Ceroid Lipofuscinosis Ceroid Storage Disease Mucopolysaccharidosis Inborn Amino Acid Metabolism Disorder Sphingolipidosis
U.S. FDA Resources

Groups and Cohorts

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

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

Information from the National Library of Medicine

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

Inclusion Criteria:

  • Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

Contacts and Locations

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

Contact: Mary Brannaman, MS 412-692-6350
Contact: Michele Poe, PhD 412-692-9958 michele.poe@chp.edu

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: Mary Brannaman, MS    412-692-6350    Mary.Brannaman@chp.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

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     History of Changes
Other Study ID Numbers: PRO11050036
First Posted: November 6, 2017    Key Record Dates
Last Update Posted: November 6, 2017
Last Verified: November 2017
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.

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:
Adaptive behavior

Additional relevant MeSH terms:
Tay-Sachs Disease
Gaucher Disease
Lysosomal Storage Diseases
Pick Disease of the Brain
Aphasia, Primary Progressive
Frontotemporal Dementia
Deficiency Diseases
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Mannosidase Deficiency Diseases
Neuronal Ceroid-Lipofuscinoses
Neurodegenerative Diseases
Leukodystrophy, Globoid Cell
Sandhoff Disease
Gangliosidosis, GM1
Pelizaeus-Merzbacher Disease
Mucopolysaccharidosis IV
Purine-Pyrimidine Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Multiple Sulfatase Deficiency Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic