EICHOR
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Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
Condition: Neurogenetic Diseases · Sponsor: University Hospital, Bordeaux
About this study
Nucleotide repeats emerge as one of the most prolific classes of genetic variations. They have the propensity to in-crease in length across generations, and have been implicated in at least 65 known neurological/ neurodevelop-mental and neuromuscular conditions. Simultaneous analysis of all these nucleotide repeats is now possible through the cutting-edge methodologies recently developed that are the long-read sequencing and the optical genome mapping. Investigator propose to test these methodologies in patients carrying expansions in those repeats and to determine the capacity of these technics to detect novel repeats in patients with no genetic diagnosis yet.
This description comes directly from the study's public registry record.
Talk to the study team
Cyril GOIZET, PROF · +335 56 79 59 52 · cyril.goizet@chu-bordeaux.fr
Always discuss trial participation with your own doctor first.
Locations (2)
| CHU Bordeaux - Hôpital Pellegrin | Bordeaux, France, France | — |
| AP-HP Hôpital Pitié-Salpêtrière | Paris, France, France | — |
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Source record: clinicaltrials.gov/study/NCT07665554