Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders

Preimplantation Diagnosis Clinical Trial

Official title:

Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders by Using Nextgeneration Sequencing

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02502214
• Other study ID #: 6195
• Status: Recruiting
• Phase: N/A
• First received: July 16, 2015
• Last updated: May 18, 2017
• Start date: November 12, 2015
• Est. completion date: September 2017

Study information

• Verified date: May 2017
• Source: University Hospital, Strasbourg, France
• Contact: Céline Moutou, MD
• Phone: 03.69.55.34.21
• Email: celine.moutou[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: September 2017
• Est. primary completion date: September 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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...)

Related Conditions & MeSH terms

• Preimplantation Diagnosis

Locations

Country	Name	City	State
France	Laboratoire de Diagnostic préimplantatoire Site du CMCO	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Monogenic diseases		for the duration of hospital stay, up to 1 year