Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders

• Conditions: Preimplantation Diagnosis

• Registration Number: NCT02502214
• Lead Sponsor: University Hospital, Strasbourg, France

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2015-07-16
• Study First Submitted QC: 2015-07-16
• Study First Posted: 2015-07-20
• Study Start: 2015-11-12
• Status Verified: 2017-05
• Last Update Submitted: 2017-05-18
• Last Update Posted: 2017-05-19
• Primary Completion: 2017-09
• Study Completion: 2017-09

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 30

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

Exclusion Criteria

• Inability to give informed consent (understanding difficulties...)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Monogenic diseases	for the duration of hospital stay, up to 1 year

Trial Locations

Locations (1)

Laboratoire de Diagnostic préimplantatoire Site du CMCO; 🇫🇷 Strasbourg, France