Observing the progression of Spinocerebellar Ataxia Type 27B

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This international, multi-center observational study aims to capture and validate the progression of Spinocerebellar Ataxia Type 27B (SCA27B) through a combination of clinical assessments, digital motor evaluations, and molecular biomarkers. Participants, including those at risk for the disease, will be assessed annually, with data collected in a specialized clinical database. The study will also involve the collection of biosamples for further analysis, aiming to identify the most effective outcome measures for future therapeutic trials in SCA27B.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14
* SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant with known or unknown carrier status
* Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
* Written informed consent AND
* Participants are willing and able to comply with study procedures

Exclusion Criteria:

* SCA27B: Missing informed consent
* SCA27B risk subjects: Missing informed consent
* Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments

Where it's running

• Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University
  Prague, Czechia Recruiting
• Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases
  Tübingen, Baden-Wurttemberg, Germany Recruiting
• Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen
  Essen, North Rhine-Westphalia, Germany Recruiting
• IRCCS Fondazione Stella Maris
  Pisa, Italy Recruiting
• Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute
  San Sebastián, Gipuzkoa, Spain Recruiting

Study contacts

• Principal investigator: Matthis Synofzik, Prof. Dr. — University Hospital Tuebingen
• Study coordinator: Matthis Synofzik, Prof. Dr.
• Email: matthis.synofzik@uni-tuebingen.de
• Phone: +49 7071 29

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Natural history and genetic modifiers in spinocerebellar ataxias

  This study tests how spinocerebellar ataxias progress over time and whether other genes influence the disease.

  Recruiting at 15 sites National Ataxia Foundation · Los Angeles, California and 16 other locations · NCT01060371

• Social cognition and emotion recognition in autosomal dominant spinocerebellar ataxias

  This project tests whether adults with certain genetic forms of spinocerebellar ataxia have trouble recognizing emotions and understanding others' thoughts compared with healthy people.

  Recruiting University Hospital, Angers · Angers · NCT07099651

• Fampridine versus placebo for adults with SCA27B caused by an FGF14 GAA expansion

  This trial tests whether fampridine (4-aminopyridine) can improve walking and visual symptoms in adults who have SCA27B from a GAA expansion in the FGF14 gene.

  Recruiting at 4 sites Phase 3 Assistance Publique - Hôpitaux de Paris · Angers and 8 other locations · NCT07185347

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.