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New treatment option for Dystonia
Official title Long-read Genome Sequencing for the Molecular Diagnosis of Dystonia
ClinicalTrials.gov ID: NCT06999096
What this study is testing
- What it's testing
- 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 significant functional disability and healthcare burden.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Adults
You may be able to join if
- Index case:
- Index case affected by familial dystonia (≥1 first-degree relative affected) and/or sporadic early-onset dystonia (symptom onset before age 50)...
- 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.
You likely can't join if
- 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...
See the full eligibility 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.
- 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.
- 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).
The study team makes the final eligibility decision.
Where it's taking place
- Montpellier, France
- Nancy, France
- Paris, France
- Strasbourg, France
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, not specified. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Montpellier, France; Nancy, France; Paris, France; Strasbourg, France. Enter your location above to see the nearest site and check your eligibility.
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BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.