NCT06330324

Reproductive Options in Inherited Skin Diseases

Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 650 (estimated)
• Sponsor: Maastricht University Medical Center · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

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

Timeline

• Start date: 2024-01-01
• Primary completion: 2026-09-01
• Completion: 2026-09-01
• First posted: 2024-03-26
• Last updated: 2025-05-18

Locations

1 site across 1 country: Netherlands