Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-11-12

Study Completion Date

2017-09-30

Brief Summary

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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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Detailed Description

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Conditions

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Preimplantation Diagnosis

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Age\> or = 18 years
* Couples at risk of transmitting cystic fibrosis
* asking for a PGD in Strasbourg
* DNA samples available at the laboratory for:

* The couple
* A related with CFTR status known
* Having signed an informed consent