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Clinical Trial 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.


Clinical Trial 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


Related Conditions & MeSH terms

  • ALD
  • Alpha-Mannosidosis
  • Batten Disease
  • Deficiency Diseases
  • GAN
  • Gangliosidoses
  • Gangliosidosis, GM1
  • Gaucher Disease
  • GM1 Gangliosidoses
  • GM3 Gangliosidosis
  • Krabbe Disease
  • Leukodystrophy
  • Leukodystrophy, Globoid Cell
  • Leukoencephalopathies
  • Lysosomal Storage Diseases
  • MLD
  • Morquio Disease
  • MPS I
  • MPS II
  • MPS III
  • MPS IV
  • Mucopolysaccharidosis IV
  • Multiple Sulfatase Deficiency Disease
  • Neurodegenerative Diseases
  • Neuronal Ceroid-Lipofuscinoses
  • Niemann-Pick Disease, Type C
  • Niemann-Pick Diseases
  • NP Deficiency
  • Osteopetrosis
  • Pelizaeus-Merzbacher Disease
  • Pick Disease of the Brain
  • PKAN
  • Purine Nucleoside Phosphorylase Deficiency
  • S-Adenosylhomocysteine Hydrolase Deficiency
  • Sandhoff Disease
  • Tay-Sachs Disease
  • Vanishing White Matter Disease

NCT number NCT03333200
Study type Observational
Source University of Pittsburgh
Contact Deepa Rajan, MD
Phone 412-692-8388
Email rajands@upmc.edu
Status Recruiting
Phase
Start date January 11, 2012
Completion date January 2035

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