Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders
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ClinicalTrials.gov Identifier: NCT02502214
Recruitment Status : Unknown
Verified May 2017 by University Hospital, Strasbourg, France. Recruitment status was: Recruiting
Preimplantation Genetic Diagnosis (PGD) for monogenic diseases is usually performed by multiplex PCR combining polymorphic microsatellites familial analysis and, where possible, couple-specific mutation detection. Single-cell multiplex PCR developments are costly and time-consuming. We propose to test and clinically validate a targeted next-generation sequencing approach for the PGD for cystic fibrosis. This technique would allow a PGD for probably almost every couple asking for it in our centre, without a previous couple-specific development (but only a preliminary familial analysis). It will be based on haplotyping using a large number of SNPs and mutation detection. A clinical validation will be performed by reanalysing non-transferable embryos obtained after PGD for cystic fibrosis, with couple's informed consent. Concordance of the results between PGD and reanalysis by NGS will be achieved and if validated, this technique may be applied to future PGD for cystic fibrosis in our centre. The same technique may then be applied for other PGD indications for which a set-up is often needed.
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Layout table for eligibility information
Ages Eligible for Study:
18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
The Preimplantation Diagnosis (DPI) may be offered to couples at risk of transmitting a serious genetic disease to their offspring
Age> or = 18 years
Couples at risk of transmitting cystic fibrosis
asking for a PGD in Strasbourg
DNA samples available at the laboratory for:
A related with CFTR status known
Having signed an informed consent
Inability to give informed consent (understanding difficulties...)