Trials Sponsors Conditions Drugs Pricing

Conditions

Spinocerebellar Ataxia Type 27B

Keywords

ataxiaSCA27BFGF14Natural History StudyOutcome Validation

Outcome Measures

Primary Outcomes (1)

Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up
Severity of ataxia in the gait and balance domain will be assessed by application of part E of the neurological examination of Friedreich Ataxia Rating Scale (FARS-E). The total score is calculated as the sum of 7 items, yielding a total score between 0 and 28. Hereby, higher FARS-E scores indicate more severe functional impairment.
24 months

Secondary Outcomes (4)

Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up
24 months
Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up
24 months
Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up
24 months
Digital gait and balance assessment from baseline to 2-year follow-up
24 months

Other Outcomes (3)

Activities-specific Balance Confidence Scale (ABC Scale) from baseline to 2-year follow-up
24 months
Friedreich Ataxia Rating Scale - Functional Staging from baseline to 2-year follow-up
24 months
Digital assessment of upper limb movement from baseline to 2-year follow-up
24 months

Study Arms (3)

SCA27B

Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants.

SCA27B risk subjects

First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants

Unrelated healthy controls

Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50.

Eligibility Criteria

Age18 Years - 99 Years

Sexall

Healthy VolunteersYes

Age GroupsAdult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

This study enrolls participants with clinically manifest and genetically confirmed SCA27B and first-disease relatives at-risk for SCA27B, as well as healthy unrelated controls to contrast unspecific, age- or sex-related findings to disease-related specific findings.

You may qualify if:

SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14

Sponsors & Collaborators

University Hospital Tuebingen
Otherlead

Study Sites (5)

Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University

Prague, 15006, Czechia

RECRUITING

Olga BrýksiováCONTACT+420 702 269 277 ataxie@fnmotol.cz

Martin Vyhnálek, Assoc. Prof., MD., Ph.D.PRINCIPAL INVESTIGATOR

Zuzana Blichová, MDSUB INVESTIGATOR

Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases

Tübingen, Baden-Wurttemberg, 72076, Germany

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Biosample collection including blood (DNA, serum, plasma, RNA, PBMC) and urine; and optional CSF and skin biopsy

MeSH Terms

Conditions

Ataxia

Condition Hierarchy (Ancestors)

DyskinesiasNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Officials

Matthis Synofzik, Prof. Dr.
University Hospital Tuebingen
PRINCIPAL INVESTIGATOR
Andreas Traschütz, Dr. Dr.
University Hospital Tuebingen
PRINCIPAL INVESTIGATOR

Central Study Contacts

Matthis Synofzik, Prof. Dr.

CONTACT

+49 7071 29 matthis.synofzik@uni-tuebingen.de

Andreas Traschütz, Dr. Dr.

CONTACT

+49 7071 29

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: PROSPECTIVE
Target Duration: 24 Months
Sponsor Type: OTHER
Responsible Party: PRINCIPAL INVESTIGATOR
PI Title: Principal Investigator, Leading Consultant

Study Record Dates

First Submitted

June 18, 2024

First Posted

June 25, 2024

Study Start

June 4, 2024

Actual (reported)

Primary Completion

December 31, 2028

Estimated

Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (4)

Other Outcomes (3)

Study Arms (3)

SCA27B

SCA27B risk subjects

Unrelated healthy controls

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (5)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (4)

Other Outcomes (3)

Study Arms (3)

SCA27B

SCA27B risk subjects

Unrelated healthy controls

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (5)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations