Clinical Trials

 

Longitudinal Study of Neurodegenerative Disorders

Intervention Type: Biological, Other
Study Type: Observational
Sponsors: University of Pittsburgh
Participants: 1500
Authors
Maria L Escolar, Michele D. Poe
Abstract
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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Facilities
The Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC - Recruiting
Pittsburgh, United States of America
Contacts
Primary
Jodi Martin
sausjl@upmc.edu
412-692-6351
Backup
Maria Escolar, MD, MS
maria.escolar@chp.edu
412-692-6350
Eligibilities
Sex: All
Healthy Volunteers: No
Inclusion Criteria:
- Any patient with a genetic neurodegenerative disorder
Exclusion Criteria:
- none
Relevant Conditions

Alpha Mannosidosis, Beta-Mannosidosis, Brachydactyly Mononen Type, C Syndrome, CACH Syndrome, CLN1 Disease, CLN2 Disease, CLN3 Disease, CLN4 Disease, CLN5 Disease, Cockayne Syndrome, Dementia, Drug Induced Dyskinesia, Frontotemporal Dementia, GM1 Gangliosidosis, Gangliosidosis, Gaucher Disease, Gaucher Disease Type 1, Gaucher Disease Type 2, Gaucher Disease Type 3, Histiocytosis, Krabbe Disease, Leukodystrophy, Malnutrition, Mucopolysaccharidosis Type 4, Mucopolysaccharidosis Type 4A, Multiple Sulfatase Deficiency, Neuronal Ceroid Lipofuscinoses, Niemann-Pick Disease, Non-Langerhans-Cell Histiocytosis, Osteopetrosis, Osteosclerosis Autosomal Dominant, Pelizaeus-Merzbacher Disease, Reticulohistiocytoma, Sandhoff Disease, Splenomegaly, Supranuclear Ophthalmoplegia, Tay-Sachs Disease

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