Viewing Study NCT05149469



Ignite Creation Date: 2024-05-06 @ 4:57 PM
Last Modification Date: 2024-10-26 @ 2:19 PM
Study NCT ID: NCT05149469
Status: COMPLETED
Last Update Posted: 2021-12-08
First Post: 2021-11-24

Brief Title: Molecular Aspects of Preimplantation Genetic Diagnosis for NF1
Sponsor: University Hospital Strasbourg France
Organization: University Hospital Strasbourg France

Study Overview

Official Title: Evaluation of Preimplantation Genetic Diagnosis for Neurofibromatosis Type 1 NF1 Emphasizing on the Molecular Aspects
Status: COMPLETED
Status Verified Date: 2024-10
Last Known Status: RECRUITING
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: NF1
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
Detailed Description: None

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: False
Is a FDA Regulated Device?: False
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None