Molecular Aspects of Preimplantation Genetic Diagnosis for NF1

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Brief Title

Molecular Aspects of Preimplantation Genetic Diagnosis for NF1

Official Title

Evaluation of Preimplantation Genetic Diagnosis for Neurofibromatosis Type 1 (NF1), Emphasizing on the Molecular Aspects

Brief Summary

      Neurofibromatosis 1 (NF1) is a multisystem disorders characterized by skin abnormalities,
      such as café-au-lait spots and neurofibromas, learning disabilities, skeletal anomalies and
      vascular complications. Experience learns that this disorder is a great burden for patients.
      NF1 is an autosomal dominant disorder with 50% risk of transmission. The penetrance is nearly
      100%, but the expression varies greatly even within families, which makes it nearly
      impossible to predict severity in offspring. Preimplantation genetic diagnosis (PGD) is a
      reproductive option for couples at risk of transmitting NF1 to their offspring. We perform a
      retrospective and observational multicentric study in the Maastricht University Medical
      Center, the University Hospital of Brussel and Strasbourg University Hospital. Our specific
      (and first) goal is to evaluate the molecular aspects of PGD for NF1 in an international
      cohort of couples requesting PGD for NF1.

      About 50% of the patients with NF1 have a de novo mutation that can complicate development of
      a PGD test. Earlier studies from 1990 and 1992 have shown that de novo NF1 mutations usually
      occur on the paternal allele. We want to confirm these findings with collected data from our
      cohort. The high incidence of de novo mutations results in a higher chance of finding
      mosaicism in patients or their parents. As a result of this, it can become apparent during
      PGD test preparation that PGD treatment is no longer possible or indicated. The investigators
      will evaluate these aspects of PGD for NF1 in our cohort.

      They are also interested, as a second goal, in other aspects of PGD treatment for NF1, such
      as the success rate in thier cohort. They expect the success rate to be the same as for other
      autosomal dominant disorders
    



Study Type

Observational


Primary Outcome

Study of the molecular aspects of PGD for NF1 in a large European cohort.


Condition

Neurofibromatosis Type 1



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

60

Start Date

September 15, 2021

Completion Date

September 30, 2022

Primary Completion Date

September 2022

Eligibility Criteria

        Inclusion criteria:

          -  Major subjects (≥18 years old)

          -  Couples who have been treated at the HUS for a preimplantation diagnosis request for
             type 1 neurofibromatosis (confirmed by a molecular molecular analysis) and who have
             benefited from preliminary analyzes, between 01/01/2004 and 30/06 / 2021

          -  Couple who, after receiving information, did not express their opposition to the reuse
             of their data for the purposes of this research

        Exclusion criteria:

          -  Couples who expressed their opposition to participating in the study

          -  Subject under guardianship, curatorship or safeguard of justice
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

, 33 3.69.55.34.65, [email protected]

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT05149469

Organization ID

8374


Responsible Party

Sponsor

Study Sponsor

University Hospital, Strasbourg, France


Study Sponsor

, , 


Verification Date

November 2021