Identification of Biomarkers in Spinocerebellar Ataxia 3

NCT03885167 | Completed

• 2 other identifiers: HUM00121991U01NS106670
• Study Type: observational
• Target: 22
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to examine the differences in cerebral spinal fluid (CSF) and blood of patients with spinocerebellar ataxias and healthy volunteers. The goal of this project is to identify new biomarkers that are useful for characterizing spinocerebellar ataxias and identify targets for treatment or prevention of this condition.

Conditions

Spinocerebellar Ataxia Type 3

Outcome Measures

Primary Outcomes (2)

• Change in Ataxin 3 Levels in Cerebrospinal Fluid Specimens

  A lumbar puncture is performed to collect CSF.

  4 Hours

• Change in Ataxin 3 Levels in Blood Plasma Specimens

  A single blood draw is completed.

  4 Hours

Study Arms (2)

Affected Individuals with Known SCA3

In order to be eligible for this cohort, participants must have confirmed genetic testing results for Spinocerebellar Ataxia Type 3.

Other: Specimen Collection

Healthy Individual Control Subjects

In order to be eligible for this cohort, subjects must not have a diagnosis of Spinocerebellar Ataxia Type 3 and no major medical issues including but not limited to conditions that would cause an unsafe specimen collection.

Other: Specimen Collection

Interventions

Specimen Collection OTHER

No interventions take place as part of study participation- only specimen collection occurs for both cohorts.

Affected Individuals with Known SCA3; Healthy Individual Control Subjects

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Within the local community and/or those associated with the National Ataxia Foundation.

You may qualify if:

• Confirmed Genetic Testing of SCA3 or Healthy Volunteers

You may not qualify if:

• People with:
• unstable thyroid
• unstable intestinal/stomach issues
• unstable heart issues
• unstable liver issues
• unstable kidney issues
• unstable lung issues
• unstable hormone issues
• unstable mental disorders at screening
• a tumor or evidence of having a tumor
• a chronic infection or any severe acute infection within 3 months prior to screening
• People who:
• Take anti-coagulants and NSAIDs
• Have started any investigational medications in the last month
• Women who are pregnant or breast feeding

Sponsors & Collaborators

• University of Michigan: lead
• National Institutes of Health (NIH): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Approximately 2 tablespoons (approximately 30 ml) of CSF will be collected, along with a single collection of about 3.5 tablespoons (approximately 50 ml) of blood.

MeSH Terms

Conditions

Machado-Joseph Disease

Interventions

Specimen Handling

Condition Hierarchy (Ancestors)

Spinocerebellar Ataxias; Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Henry Paulson, MD

  University of Michigan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology

Study Record Dates

• First Submitted: March 19, 2019
• First Posted: March 21, 2019
• Study Start: February 21, 2019
• Primary Completion: January 4, 2023
• Study Completion: January 4, 2023
• Last Updated: November 22, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)