Reproductive Options in Inherited Skin Diseases

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

Status

Enrolling by invitation

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06330324

Acronym

REPRO-ISD

Enrollment

650

Registered

2024-03-26

Start date

2024-01-01

Completion date

2026-09-01

Last updated

2025-05-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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%.

Countries

Netherlands

Outcome results