Longitudinal Study of Neurodegenerative Disorders

study id #: NCT03333200

condition: 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

status: Recruiting

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.

intervention: Palliative Care, Hematopoetic Stem Cell Transplantation

results: https://clinicaltrials.gov/ct2/show/results/NCT03333200

last updated: February 26, 2022

start date: January 11, 2012

estimated completion: January 2035

last updated: November 4, 2021

size / enrollment: 1500

study 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.

primary outcomes:

• Cognitive development
  Repeated standardized age equivalent scores.
• 15 years
  Language development
  Repeated standardized age equivalent scores.
• 15 years
  Gross Motor development .
  Repeated standardized age equivalent scores.
• 15 years
  Fine Motor development
  Repeated standardized age equivalent scores.
• 15 years
  Adaptive living skills
  Repeated standardized age equivalent scores.
• 15 years
  

secondary outcomes:

• Exploratory biomarkers
  15 years
• Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age
  5 years

inclusion criteria:

exclusion criteria: Criteria:

none

sponsor: University of Pittsburgh

contacts: Jodi Martin, 412-692-6351, sausjl@upmc.edu

trial center locations: United States

• United States, Pennsylvania
  The Program for the Study of Neurodevelopment in Rare Disorders, Children’s Hospital of Pittsburgh of UPMC
  Jodi Martin, 412-692-6351, sausjl@upmc.edu