Long-read Genome Sequencing for the Molecular Diagnosis of Dystonia

Launched by UNIVERSITY HOSPITAL, STRASBOURG, FRANCE · May 22, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on using a new DNA testing method called long-read genome sequencing to diagnose dystonia, a movement disorder that causes involuntary muscle contractions and abnormal movements. Dystonia can be hereditary, meaning it can run in families, or it can occur in people without a family history. The goal of this trial is to improve the diagnosis of dystonia by detecting genetic changes that were missed by standard DNA tests, which often leave many patients without answers. By identifying the specific genes involved, doctors can provide better care, appropriate counseling, and even targeted treatments for individuals with this condition.

To participate in the trial, individuals must have a diagnosis of dystonia, either as part of a family history or as an early-onset case, and they should have previously undergone standard DNA testing that did not yield results. Participants will need to provide a blood sample, along with samples from at least two family members. This trial is open to all genders and ages, and it aims to make a significant difference in the lives of those affected by dystonia by improving diagnosis and treatment options.

Gender

ALL

Eligibility criteria

• 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).