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Reproductive Options in Inherited Skin Diseases

NCT06330324 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 650

Last updated 2025-05-18

No results posted yet for this study

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

Sponsors & Collaborators

  • Maastricht University Medical Center

    lead OTHER

Principal Investigators

  • Antoni Gostynski, MD, PhD · Maastricht University Medical Center

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-01-01
Primary Completion
2026-09-01
Completion
2026-09-01

Countries

  • Netherlands

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06330324 on ClinicalTrials.gov