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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT03333200
Other study ID # STUDY19020318
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date January 11, 2012
Est. completion date January 2035

Study information

Verified date April 2024
Source University of Pittsburgh
Contact Deepa Rajan, MD
Phone 412-692-8388
Email rajands@upmc.edu
Is FDA regulated No
Health authority
Study type Observational

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.


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 1500
Est. completion date January 2035
Est. primary completion date January 2030
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - Any patient with a genetic neurodegenerative disorder Exclusion Criteria: - none

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

Intervention

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.

Locations

Country Name City State
United States UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania

Sponsors (1)

Lead Sponsor Collaborator
University of Pittsburgh

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Cognitive development Repeated standardized age equivalent scores. 15 years
Primary Language development Repeated standardized age equivalent scores. 15 years
Primary Gross Motor development . Repeated standardized age equivalent scores. 15 years
Primary Fine Motor development Repeated standardized age equivalent scores. 15 years
Primary Adaptive living skills Repeated standardized age equivalent scores. 15 years
Secondary Exploratory biomarkers Blood, CSF and urine 15 years
Secondary Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age Specialized technique to use DTI data to measure brain degeneration over time 5 years
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