Status:
NOT_YET_RECRUITING
Long-read Genome Sequencing for the Molecular Diagnosis of Dystonia
Lead Sponsor:
University Hospital, Strasbourg, France
Conditions:
Dystonia
Movement Disorders
Eligibility:
All Genders
Phase:
NA
Brief Summary
Dystonia is a motor disorder caused by involuntary, intermittent, or sustained muscle contractions, leading to abnormal movements or postures. It can affect any body region and often results in signif...
Detailed Description
Dystonia is a motor disorder characterized by abnormal movements and/or postures. It is caused by involuntary, intermittent, or sustained muscle contractions. Dystonia can affect all body segments, le...
Eligibility Criteria
Inclusion
- 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).
Exclusion
Key Trial Info
Start Date :
August 1 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
August 1 2030
Estimated Enrollment :
150 Patients enrolled
Trial Details
Trial ID
NCT06999096
Start Date
August 1 2025
End Date
August 1 2030
Last Update
May 31 2025
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