Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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)

Locations
Other Locations
Netherlands
Maastricht University Medical Center
RECRUITING
Maastricht
Contact Information
Primary
Fauve C van Veen, MD
genodermatose@mumc.nl
+31433877293
Time Frame
Start Date: 2024-01-01
Estimated Completion Date: 2025-12-31
Participants
Target number of participants: 25
Treatments
Keratinisation disorders
Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.
Skin fragility disorders
Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
Ectodermal dysplasias
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
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
In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.
Health care professionals
This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.
Sponsors
Leads: Maastricht University Medical Center

This content was sourced from clinicaltrials.gov