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Advancing Neurogenetic Diagnoses Through Long-Read Sequencing

NCT07665554 · Status: NOT_YET_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 304

Last updated 2026-06-24

No results posted yet for this study

Summary

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.

Conditions

  • Neurogenetic Diseases

Interventions

PROCEDURE

Skin biopsy

Skin biopsy is a minimally invasive procedure. It will be performed during a follow-up visit. The skin biopsy is a technically simple procedure performed using a 5-mm diameter punch under local anesthesia. The procedure can be carried out in a consultation room under strict aseptic conditions and takes a total of approximately 15 minutes.The biopsy may be performed at several anatomical sites but is generally carried out on the inner aspect of the arm. It will be performed by a resident or a senior registrar. The skin biopsy sample is placed in a vial containing physiological saline and sent at room temperature.

PROCEDURE

blood sampling

Blood sampling is a routine biological procedure performed under the same conditions as during a follow-up consultation. Pain, redness, or bleeding may occur at the puncture site. If the required samples are not already available, they will be collected. The maximum volumes collected will be as follows and will represent a total volume of less than two tablespoons (for participants weighing less than 30 kg, only one tube of each type will be collected)

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Cyril GOIZET, PROF · University Hospital, Bordeaux

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
6 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-09-30
Primary Completion
2028-09-30
Completion
2028-09-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07665554 on ClinicalTrials.gov