Longitudinal Study of Neurodegenerative Disorders

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ClinicalTrials.gov Identifier: NCT03333200

Recruitment Status : Recruiting

First Posted : November 6, 2017

Last Update Posted : December 5, 2018

See Contacts and Locations

Sponsor:

Information provided by (Responsible Party):

Maria Escolar, University of Pittsburgh

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

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

Genetics Home Reference related topics: CHMP2B-related frontotemporal dementia CLN3 disease GRN-related frontotemporal dementia Niemann-Pick disease Pelizaeus-Merzbacher disease RNAse T2-deficient leukoencephalopathy Schindler disease Tay-Sachs disease Alpha-mannosidosis Frontotemporal dementia with parkinsonism-17 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with subcortical cysts Mucopolysaccharidosis type IV Multiple sulfatase deficiency

MedlinePlus related topics: Degenerative Nerve Diseases

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

Cognitive development [ Time Frame: 15 years ]
Repeated standardized age equivalent scores.
Language development [ Time Frame: 15 years ]
Repeated standardized age equivalent scores.
Gross Motor development . [ Time Frame: 15 years ]
Repeated standardized age equivalent scores.
Fine Motor development [ Time Frame: 15 years ]
Repeated standardized age equivalent scores.
Adaptive living skills [ Time Frame: 15 years ]
Repeated standardized age equivalent scores.

Secondary Outcome Measures :

Exploratory biomarkers [ Time Frame: 15 years ]
Blood, CSF and urine
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, 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

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 History of Changes
Other Study ID Numbers:	PRO11050036
First Posted:	November 6, 2017 Key Record Dates
Last Update Posted:	December 5, 2018
Last Verified:	December 2018
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 Niemann-Pick Diseases Niemann-Pick Disease, Type A Niemann-Pick Disease, Type C Gangliosidoses Neuronal Ceroid-Lipofuscinoses Tay-Sachs Disease Neurodegenerative Diseases Leukodystrophy, Globoid Cell Sandhoff Disease Leukoencephalopathies Gangliosidosis, GM1 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

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