Advancing Neurogenetic Diagnoses Through Long-Read Sequencing
ConditionNeurogenetic Diseases
Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age6-60
SponsorUniversity Hospital, Bordeaux
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Participants affiliated with or beneficiaries of a social security scheme
Participants who speak French
Participants aged ≥ 6 and ≤ 60 years
Free and informed consent, signed by the parents or the holder of parental authority for patients under the age of 18
Disqualifiers
By the parents or the holder of parental authority for patients under the age of 18
By the patient's representative for adults under guardianship
By the adult patient This opposition from the patient must be communicated to the site investigator within a maximum of one month after the information note has been sent. If the letter confirming consent is returned due to an incorrect address, the patient will not be included.
Degraded DNA or average size < 30 kb
Trial design
Design model
Parallel
Treatments tested in this trial
Skin biopsy
Procedure/SurgerySkin 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.
blood sampling
Procedure/SurgeryBlood 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)
Treatment groups
304 Participants
are divided into 3 treatment groupsGroup A: ControlOther 2 interventions
Group B: Diagnosed familyOther 1 intervention
Group C: Undiagnosed familyOther 2 interventions
Trial outcomes
Primary outcomes
1
Diagnosis by NGS technology
The first primary endpoint is the ability of the proposed Next-Generation Sequencing (NGS) technology to establish the diagnosis of each neurogenetic disease studied, defined as the presence or absence of the disease, in comparison with the currently used reference method (gene-specific Polymerase Chain reaction (PCR)). NGS analysis will be performed blinded to the results previously obtained on the same samples using the reference technique, taking into account the disease under investigation and the number of repeat amplifications.
Time frame
Inclusion visit2
Molecular diagnosis
Identification a molecular diagnosis in families undergoing a diagnostic odyssey, by demonstrating both the presence of repeat expansions in affected family members and the absence of such expansions in unaffected individuals within the same family.
Time frame
Inclusion visitSecondary outcomes
1
New complex haplotypes
Identification of new complex haplotypes
Time frame
Inclusion visit2
Deleterious biological effect
Identification of a deleterious biological effect of one or more newly identified variants in the new gene(s) of inter-est.
Time frame
Inclusion visitSponsors and contacts
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Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: