Long-read Genome Sequencing for the Molecular Diagnosis of Dystonia
A legfontosabb adatok
- Ki végzi
- University Hospital, Strasbourg, France
- Hol
- Franciaország4 helyszín, 1 országbanVálassz országot a helyszínekhez
- Azonosító
- Állapot
- Toboroz
- Résztvevők
- 150 fő, tervezett
- Kezdés
- 2026. ápr. 22.
- Várható befejezés
- 2030. aug.
- A vizsgálat típusa
- Beavatkozással járó
- A vizsgált kezelések
- Long-read whole genome sequencing
- A regiszteradat frissítve
- 2026. május 20.
Ki vehet részt
MI-összefoglaló
A vizsgálat saját részvételi feltételeiből. Gép olvasta ki az oldalon álló regiszterszövegből, ezért tévedhet. Hogy ki vehet részt, azt a lenti regiszterszöveg és a vizsgálat csapata dönti el.
The trial is looking for people with dystonia whose cause was not found by short-read genome sequencing, and their relatives. Dystonia means muscles tighten on their own and cause abnormal movements or postures. The trial uses long-read genome sequencing, a newer DNA test, to look for the genetic cause.
- Életkor
- The record gives no age limits. People under 18 can join with consent from parents or legal guardians.
- Nem
- All sexes can join.
- A betegség stádiuma
- The person with dystonia must have familial dystonia (at least 1 parent, child, brother or sister also affected) and/or dystonia that started before age 50. They must meet the criteria of the PFMG-2025 program. Relatives can join with or without symptoms.
- Korábbi kezelés
- Everyone must already have had short-read genome sequencing that found no genetic cause.
A részvétel fő kizáró okai
- Not covered by a social security scheme
- The cause of the dystonia may not be genetic, for example brain injury from lack of oxygen around birth, kernicterus (brain damage from severe newborn jaundice), severe head injury or brain infection
- No blood sample from the person with dystonia and at least 2 relatives
- A health condition that the study doctor thinks rules out taking part
A regiszter feltételei, szó szerint
Mind a 9 feltétel megnézéseKevesebb
Ki vehet részt
- 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
- 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
Ki nem vehet részt
- 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)
- Index case or relatives who are not affiliated with or not beneficiaries of a social security scheme
Ennek a vizsgálatnak nincs helyszíne itt: Egyesült Államok.
Egy országban van helyszíne. Válassz országot, hogy lásd a helyszíneket.
A vizsgálatról
Mit akar kideríteni a vizsgálat
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. Although its familial nature was recognized early on, the advent of high-throughput DNA sequencing has dramatically increased the identification of dystonia-associated genes. Dystonia now encompasses all modes of inheritance-autosomal dominant (e.g., TOR1A, KMT2B), autosomal recessive, X-linked, and mitochondrial-and over 100 genes have been implicated. Many forms involve structural variants (SVs) or copy number variations (CNVs), which are challenging to detect using standard short-read sequencing (srWGS).
A teljes eredeti leírásKevesebb
Molecular diagnosis is essential, ending the diagnostic odyssey and enabling genetic counseling, prognosis, reproductive planning, and-in some cases-targeted therapies. For instance, GNAO1-related dystonia may respond to deep brain stimulation, while dopa-responsive dystonia benefits from levodopa.
Despite advances, srWGS has key limitations, especially for detecting repeat expansions, SVs, and phasing alleles. This likely explains the low diagnostic yield in dystonia compared to other neurological disorders, with over 70% of cases remaining unsolved.
Long-read sequencing (lrWGS), such as Oxford Nanopore technology, overcomes many of these challenges by reading native DNA fragments thousands of bases long. It enables comprehensive detection of SNVs, indels, SVs, CNVs, methylation changes, and repeat expansions-including known and newly discovered pathogenic expansions (e.g., in NOTCH2NLC). It also allows phasing without parental samples, which is crucial in recessive cases.
The investigators propose that lrWGS could significantly increase the diagnostic yield in dystonia, improving patient care, enabling appropriate genetic counseling, and paving the way for personalized treatment strategies.
A vizsgálat csoportja
- Dystonia patients without molecular diagnosisA vizsgált kezelés
Long-read genome sequencing for identification of genetic causes in dystonia patients without molecular diagnosis
Kezelés: Long-read whole genome sequencing
Kérdések a vizsgálat csapatának
- Milyen gyakran kell bejárnom, és egy-egy alkalom mennyi ideig tart?
- Megtérítik az utazási költséget?
- Megtarthatom a saját orvosomat?
- Mi történik, ha ki akarok lépni?
Contact the study team: see the registry record → Contacts and Locations
Oldal nyomtatása az orvosomnakAdatok és források
- Regiszteradat
- Szerepel a ClinicalTrials.gov-on.
- Hivatalos cím
- Evaluation of the Value of Long-read Genome Sequencing for the Molecular Diagnosis of Dystonia: a Prospective Multicenter Study
- MI-összefoglaló
- A vizsgálat saját részvételi feltételeiből. Gépi kiolvasás: 2026. november 14.
- A regiszteradat frissítve
- 2026. május 20.