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

May 16, 2025 updated by: Maastricht University Medical Center

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

25

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Netherlands
    • Limburg
      • Maastricht, Limburg, Netherlands, 6202 AZ
        • Recruiting
        • Maastricht University Medical Center
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The study population consists of 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, and health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists).

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Keratinisation disorders
Keratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma.
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.
Skin fragility disorders
Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
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.
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.
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.
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: Qualitative interview
Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling.
Other genodermatoses
In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.
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.
Health care professionals
This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making
Time Frame: 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.
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Maastricht University Medical Center

Investigators

  • Principal Investigator: Antoni Gostynski, MD, PhD, Maastricht University Medical Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2024

Primary Completion (Estimated)

August 31, 2025

Study Completion (Estimated)

December 31, 2025

Study Registration Dates

First Submitted

March 11, 2024

First Submitted That Met QC Criteria

March 18, 2024

First Posted (Actual)

March 26, 2024

Study Record Updates

Last Update Posted (Actual)

May 18, 2025

Last Update Submitted That Met QC Criteria

May 16, 2025

Last Verified

May 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • METC 2023-0193

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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