Long-read genome sequencing to help diagnose dystonia

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 interventional study uses long-read whole-genome sequencing to detect genetic causes of dystonia in patients and their families who previously had inconclusive results with short-read sequencing. It targets individuals with familial dystonia or early-onset forms, requiring at least two relatives' participation and prior negative short-read testing. The goal is to improve diagnostic yield, inform genetic counseling, and guide prognosis and potential targeted therapies. The study is conducted across multiple French centers with a lead sponsor at University Hospital, Strasbourg, and collaborators at Montpellier, Nancy, and Paris sites.

Why it matters

Who can join: the full rules

Inclusion criteria - Index case:

* Index case affected by familial dystonia (≥1 first-degree relative affected) and/or sporadic early-onset dystonia (symptom onset before age 50), meeting the criteria of the PFMG-2025 program.
* Index case who has undergone short-read genome sequencing, which did not lead to a molecular diagnosis.
* Ability to understand and sign informed consent by the index case and/or their parents or legal guardians for patients under 18 years of age.
* Availability of a blood sample from the index case and at least two relatives, either affected or unaffected.

Inclusion criteria - Relatives:

* Symptomatic or asymptomatic relative of an index case, who has also undergone short-read genome sequencing without a conclusive molecular diagnosis.
* Ability to understand and sign informed consent.

Exclusion criteria:

* Index case or relatives who are not affiliated with or not beneficiaries of a social security scheme.
* Index case and their parents presenting with a condition that, in the opinion of the investigator, would contraindicate participation in the study.
* Suspected non-genetic etiology (e.g., perinatal hypoxic-ischemic injury, kernicterus, history of severe head trauma or central nervous system infection).

Where it's running

• CHRU Nancy
  Nancy, France Recruiting
• CHU de Montpellier - Hôpital Gui de Chauliac
  Montpellier, France Not yet recruiting
• Hôpital Pitié Salpêtrière- APHP
  Paris, France Not yet recruiting
• Hôpitaux Universitaires de Strasbourg
  Strasbourg, France Not yet recruiting

Study contacts

• Study coordinator: Thomas WIRTH, Doctor
• Email: thomas.wirth@chru-strasbourg.fr
• Phone: +33 3 88 12 89 19

Similar studies

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

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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.