Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders

NCT02502214 | Unknown

• 1 other identifier: 6195
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Preimplantation Diagnosis

Keywords

Preimplantation Genetic Diagnosis; PGD; Next-Generation Sequencing; NGS; Single-Gene disorders; Cystic Fibrosis; CFTR; Single-cell analysis; PCR; SNP; Whole Genome Amplification

Outcome Measures

Primary Outcomes (1)

• Monogenic diseases

  for the duration of hospital stay, up to 1 year

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Laboratoire de Diagnostic préimplantatoire Site du CMCO

Strasbourg, 67091, France

RECRUITING

MeSH Terms

Conditions

Cystic Fibrosis

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Central Study Contacts

Céline Moutou, MD

CONTACT

03.69.55.34.21; celine.moutou@chru-strasbourg.fr

Emmanuelle KIEFFER, PhD

CONTACT

03.69.55.34.21; emmanuelle.kieffer@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 16, 2015
• First Posted: July 20, 2015
• Study Start: November 12, 2015
• Primary Completion: September 1, 2017
• Study Completion: September 1, 2017
• Last Updated: May 19, 2017

Record last verified: 2017-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)