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

Quality of Life Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06330350
• Other study ID #: METC 2023-0193
• Status: Recruiting
• Start date: January 1, 2024
• Est. completion date: December 31, 2025

Study information

• Verified date: March 2024
• Source: Maastricht University Medical Center
• Contact: Fauve C van Veen, MD
• Phone: +31433877293
• Email: genodermatose[@]mumc.nl
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: December 31, 2025
• Est. primary completion date: August 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Albinism
• Basal Cell Nevus Syndrome
• Birt-Hogg-Dube Syndrome
• Cutis Laxa
• Ectodermal Dysplasia
• Epidermolysis Bullosa
• Ichthyosis
• Keratosis
• Quality of Life
• Syndrome
• Tuberous Sclerosis

Intervention

Other:
• Qualitative interview
Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling.

Locations

Country	Name	City	State
Netherlands	Maastricht University Medical Center	Maastricht	Limburg

Sponsors (1)

Lead Sponsor	Collaborator
Maastricht University Medical Center

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making	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.	1 day