Reproductive Options in Inherited Skin Diseases (REPRO-ISD)

Maastricht University Medical Centre (MUMC)

Status: Invitation-only

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

Study type: Observational

Funder types: Other

Identifiers

NCT06330324

METC 2023-0182

Details and patient eligibility

About

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.

Enrollment: 650 estimated patients

Sex: All

Volunteers: No 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 exclusion criteria were formulated.

Trial design

650 participants in 5 patient groups

Keratinisation disorders

Description:

Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.

Skin fragility disorders

Description:

Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.

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.

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.

Other genodermatoses

Description:

In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.