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Trial record 98 of 571 for:    Genetic AND SNP

Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02502214
Recruitment Status : Unknown
Verified May 2017 by University Hospital, Strasbourg, France.
Recruitment status was:  Recruiting
First Posted : July 20, 2015
Last Update Posted : May 19, 2017
Information provided by (Responsible Party):
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.

Condition or disease
Preimplantation Diagnosis

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders by Using Nextgeneration Sequencing
Actual Study Start Date : November 12, 2015
Estimated Primary Completion Date : September 2017
Estimated Study Completion Date : September 2017

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Monogenic diseases [ Time Frame: for the duration of hospital stay, up to 1 year ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The Preimplantation Diagnosis (DPI) may be offered to couples at risk of transmitting a serious genetic disease to their offspring

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...)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02502214

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Contact: Céline Moutou, MD
Contact: Emmanuelle KIEFFER, PhD

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Laboratoire de Diagnostic préimplantatoire Site du CMCO Recruiting
Strasbourg, France, 67091
Contact: Céline MOUTOU, MD    33 3 69 55 34 21   
Contact: Emmanuelle KIEFFER, PhD    33 3 69 55 34 21   
Principal Investigator: Céline MOUTOU, MD         
Sub-Investigator: Emmanuelle KIEFFER, PhD         
Sponsors and Collaborators
University Hospital, Strasbourg, France

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Responsible Party: University Hospital, Strasbourg, France Identifier: NCT02502214     History of Changes
Other Study ID Numbers: 6195
First Posted: July 20, 2015    Key Record Dates
Last Update Posted: May 19, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University Hospital, Strasbourg, France:
Preimplantation Genetic Diagnosis
Next-Generation Sequencing
Single-Gene disorders
Cystic Fibrosis
Single-cell analysis
Whole Genome Amplification