Instrumented Data Exchange for Ataxia Study

NCT04268147 | Completed

• 1 other identifier: IRB18-1580
• Study Type: observational
• Target: 128
• Locations: 1 country
• Sites: 5

Brief Summary

This research study is testing body-worn sensors to measure movement during simple tests of coordination, in order to evaluate the progression and severity of ataxia.

Conditions

Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6; Friedreich Ataxia

Outcome Measures

Primary Outcomes (9)

• iSARA

  measurements collected by wearable inertial sensors during instrumented Scale for the Assessment and Rating of Ataxia (iSARA)

  2 years

• SARA

  Scale for the Assessment and Rating of Ataxia (SARA) measurements evaluated by clinician to measure severity of spinocerebellar ataxia through coordination, speech, stance, and gait

  2 years

• mFARS

  modified Friedreich's Ataxia Rating Scale (mFARS) measurements evaluated by clinician compared to measure severity of Friedreich's ataxia through coordination, speech, stance, and gait

  2 years

• Daily Life (UChicago site ONLY)

  APDM SmartSox technology used to measure daily life activity(movement, falls, etc.) of all University of Chicago subjects

  2 weeks

• Ataxia App on Watch/iPhone

  Bi-weekly assessments completed on Ataxia Application for Apple Watches and iPhones. Data collected includes active monitoring of speech, stance, coordination, gait and patient-reported symptoms.

  2 years

• Patient-Reported Questionnaires of Health

  Activities, Balance, and Confidence (ABC) Questionnaire; EQ-5D-5L Health Questionnaire; Modified Fatigue Impact Scale (MFIS-5); Activities of Daily Living (ADLs)

  2 years

• Falls Questionnaire

  Automatic email sent out to subjects inquiring about any falls and near falls they have experienced during the past month

  2 years

• Functional Staging

  Clinician evaluates severity of ataxia symptoms.

  2 years

• Timed 25 Foot Walk

  Subjects walk for 25 feet, as quickly and safely as possible, while being timed

  2 years

Study Arms (7)

Spinocerebellar Ataxia-1

individuals with a genetically confirmed diagnosis of SCA-1

Spinocerebellar Ataxia-2

individuals with a genetically confirmed diagnosis of SCA-2

Spinocerebellar Ataxia-3

individuals with a genetically confirmed diagnosis of SCA-3

Spinocerebellar Ataxia-6

individuals with a genetically confirmed diagnosis of SCA-6

Freidreich's Ataxia

individuals with a genetically confirmed diagnosis of FA

FA Controls

Healthy, age-matched controls

SCA Controls

Healthy, age-matched controls

Eligibility Criteria

• Age: 12 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

ataxia clinics

You may qualify if:

• SCA 1, 2, 3, 6, and FA with mutations in the pathogenic range confirmed from genetic testing
• SCA: aged 18-75 years
• FA: aged 12-30, diagnosed between ages 5-25
• community dwelling
• physically/cognitively capable of consenting/assenting and complying with the protocol based on investigator's judgement
• able to walk independently 10 yards without an assistive device
• able to sit or stand unassisted for 30 seconds
• no other neurological or musculoskeletal disorder that could affect mobility
• no other history of head injury, vestibular function, stroke, or other disorders that could affect mobility
• willing and able to participate in a 2-year study
• consent to be video recorded while performing study assessments

You may not qualify if:

• dementia that limits subjects' ability to follow directions
• pain that limits mobility
• SCA: enrolled in a clinical drug trial

Sponsors & Collaborators

• University of Chicago: lead
• Pfizer: collaborator
• Biogen: collaborator
• APDM Wearable Technologies: collaborator

Study Sites (5)

University of California-Los Angeles

Los Angeles, California, 90095, United States

Location

The University of Chicago

Chicago, Illinois, 60637, United States

Location

Johns Hopkins Medicine

Baltimore, Maryland, 21231, United States

Location

Mass General Hospital

Boston, Massachusetts, 02114, United States

Location

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

MeSH Terms

Conditions

Spinocerebellar Ataxias; Machado-Joseph Disease; Friedreich Ataxia

Condition Hierarchy (Ancestors)

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; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2020
• First Posted: February 13, 2020
• Study Start: June 1, 2019
• Primary Completion: April 30, 2024
• Study Completion: June 30, 2024
• Last Updated: August 5, 2024

Record last verified: 2024-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (5)