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