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

Recruiting

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

• Registration Number: NCT06330350
• Lead Sponsor: Maastricht University Medical Center

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-01-01
• Study First Submitted: 2024-03-11
• Study First Submitted QC: 2024-03-18
• Study First Posted: 2024-03-26
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-16
• Last Update Posted: 2025-05-18
• Primary Completion: 2025-08-31
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 25

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Keratinisation disorders	Qualitative interview	Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.
Ectodermal dysplasias	Qualitative interview	Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth.
Other genodermatoses	Qualitative interview	In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.
Dermato-oncogenetic syndromes	Qualitative interview	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.
Skin fragility disorders	Qualitative interview	Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
Health care professionals	Qualitative interview	This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.

Primary Outcome Measures

Name	Time	Method
Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making	1 day	Qualitative evaluation of the perspectives and needs of patients with genodermatoses and their partners who wish to have children, as well as clinicians involved in the decision-making process and the consideration of reproductive options, such as prenatal diagnosis (PND), pre-implantation genetic testing (PGT), adoption, the use of donor gametes, refraining from having children, natural pregnancy without genetic testing or foster care. And assessing their level of knowledge on these reproductive options.

Trial Locations

Locations (1)

Maastricht University Medical Center; 🇳🇱 Maastricht, Limburg, Netherlands