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Longitudinal Study of Neurodegenerative Disorders

NCT03333200 — Recruiting, 1500 participants, University of Pittsburgh
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RegistryNCT03333200
StatusRecruiting
Study typeObservational
Enrollment1500 (Estimated)
SponsorUniversity of Pittsburgh (Other)
ConditionsMLD, 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
InterventionsPalliative Care, Hematopoetic Stem Cell Transplantation (Other, biological)
Datesstart 2012-01-11, primary completion 2030-01-01 (estimated), completion 2035-01-01 (estimated), first posted 2017-11-06, last updated 2026-02-09
Locations1 site in United States

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-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.

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+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.

+Arms and interventions

  • Palliative Care (Other): Collecting information about the natural progression of these diseases
  • Hematopoetic Stem Cell Transplantation (Biological): Following patients who have received HSCT as part of their clinical care.

+Outcome measures

Primary outcomes

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

Secondary outcomes

  • Exploratory biomarkers [15 years]: Blood, CSF and urine
  • Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age [5 years]: Specialized technique to use DTI data to measure brain degeneration over time

+Eligibility

Sex: All

Inclusion Criteria:

* Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

* none

+Locations (1)

FacilityCityCountryStatus
UPMC Children's Hospital of PittsburghPittsburgh, PennsylvaniaUnited StatesRecruiting

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