Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Maastricht University Medical Centre (MUMC)

Status: Enrolling

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

Treatments: Other: Qualitative interview

Study type: Observational

Funder types: Other

Identifiers

NCT06330350

METC 2023-0193

Details and patient eligibility

About

The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.

Enrollment: 25 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children
• Patients with clinically and molecularly confirmed variant of a genodermatosis
• Health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists)

Exclusion criteria

• Not being able to communicate verbally in Dutch or English

Trial design

25 participants in 6 patient groups

Keratinisation disorders

Description:

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

Treatment:

Other: Qualitative interview

Skin fragility disorders

Description:

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

Treatment:

Other: Qualitative interview

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.

Treatment:

Other: Qualitative interview

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.

Treatment:

Other: Qualitative interview

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.

Treatment:

Other: Qualitative interview

Health care professionals

Description:

This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.

Treatment:

Other: Qualitative interview