Longitudinal Study of Neurodegenerative Disorders

Gaucher Disease Clinical Trial

Official title:

Longitudinal Study of Neurodegenerative Disorders

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03333200
• Other study ID #: STUDY19020318
• Status: Recruiting
• 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
• 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

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