Reproductive Options in Inherited Skin Diseases

Launched by MAASTRICHT UNIVERSITY MEDICAL CENTER · Mar 18, 2024

Keywords

ClinConnect Summary

This is an international, observational study called REPRO-ISD that aims to learn how people with inherited skin diseases use prenatal testing and preimplantation genetic testing (IVF with genetic testing) to have children. Researchers will look back at past and current cases in the Netherlands and other European countries to see how often these reproductive options are used, what decisions doctors and families make, and the outcomes of pregnancies, including how many continue and how often embryos are found to be affected. No new treatments are given as part of the study; it’s simply collecting and analyzing information to improve future counseling and care.

Who could be eligible? The study focuses on couples or adults with a confirmed genetic skin condition who have considered or undergone prenatal testing or PGT and want children. It includes people of any sex and age (children to older adults). Participants are invited to join, with an estimated total of about 650 people across sites. The study runs from 2024 with results expected around 2026, and it is coordinated by Maastricht University Medical Center in the Netherlands. If you’re invited to participate, you would provide information about your experiences—there are no experimental treatments involved.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Couples affected with molecularly confirmed genodermatosis (i.e., keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses)
• • Prenatal diagnosis (PND) was performed and/or in vitro fertilisation (IVF) with pre-implantation genetic testing was performed (PGT).
• Exclusion Criteria:
• • No exclusion criteria were formulated.