Clinical trial · Observational
Reproductive Options in Inherited Skin Diseases
Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (10)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Albinism | — | UNRESOLVED | — |
| Basal Cell Nevus Syndrome | — | UNRESOLVED | — |
| Birt-Hogg-Dube Syndrome | — | UNRESOLVED | — |
| Cutis Laxa | — | UNRESOLVED | — |
| Ectodermal Dysplasia | — | UNRESOLVED | — |
| Epidermolysis Bullosa | — | UNRESOLVED | — |
| Ichthyosis | — | UNRESOLVED | — |
| Palmoplantar Keratoses | — | UNRESOLVED | — |
| Tuberous Sclerosis | — | UNRESOLVED | — |
| Xeroderma Pigmentosum |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (5)
- label
- Keratinisation disorders
- description
- Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.
- label
- Skin fragility disorders
- description
- Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
- label
- Ectodermal dysplasias
- description
- Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth.
- label
- Dermato-oncogenetic syndromes
- description
- This group are genodermatoses associated with the development of malignancies ((non-)cutaneous), such as basal cell nevus syndrome (BCNS), Birt-Hoog-Dubé syndrome, tuberous sclerosis, etc.
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available