Reproductive Options in Inherited Skin Diseases

• Conditions: Ectodermal Dysplasia; Birt-Hogg-Dube Syndrome; Cutis Laxa; Ichthyosis; Palmoplantar Keratoses; Epidermolysis Bullosa; Tuberous Sclerosis; Xeroderma Pigmentosum; Basal Cell Nevus Syndrome; Albinism

• Registration Number: NCT06330324
• Lead Sponsor: Maastricht University Medical Center

Brief Summary

The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children.

To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-01-01
• Study First Submitted: 2024-03-11
• Study First Submitted QC: 2024-03-18
• Study First Posted: 2024-03-26
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-16
• Last Update Posted: 2025-05-18
• Primary Completion: 2026-09-01
• Study Completion: 2026-09-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 650

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Assessment of clinical outcomes of reproductive options	2-3 years	Outcomes of reproductive options such as prenatal diagnostics (PND) and preimplantation genetic testing (PGT) will be assessed, looking at indications, decision-making by professionals and/or the Dutch national indication committee as to whether or not to start a PGT procedure. The results of PND and PGT, pregnancy outcomes (success rates) and risks (i.e. the risk of miscarriage) will be summarised. The percentage of continuing pregnancies from prenatal screening techniques (especially PGT) will be calculated. In addition, the percentage of affected embryos will be calculated for different genodermatoses per PGT cycle using using the following formula: (number of affected embryos)/(total number of embryos)\*100%.

Trial Locations

Locations (1)

Maastricht University Medical Center; 🇳🇱 Maastricht, Limburg, Netherlands