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

NCT ID: NCT06330350

Last Updated: 2025-05-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-01-01

Study Completion Date

2025-12-31

Brief Summary

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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

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Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Keratinisation disorders

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

Qualitative interview

Intervention Type OTHER

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.

Qualitative interview

Intervention Type OTHER

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.

Qualitative interview

Intervention Type OTHER

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.

Qualitative interview

Intervention Type OTHER

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.

Qualitative interview

Intervention Type OTHER

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.

Qualitative interview

Intervention Type OTHER

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

Interventions

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Qualitative interview

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

Intervention Type OTHER

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Maastricht University Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Antoni Gostynski, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Maastricht University Medical Center

Locations

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Maastricht University Medical Center

Maastricht, Limburg, Netherlands

Site Status RECRUITING

Countries

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Netherlands

Central Contacts

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Fauve C van Veen, MD

Role: CONTACT

+31433877293

Facility Contacts

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Fauve C van Veen

Role: primary

+31433877293

Other Identifiers

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METC 2023-0193

Identifier Type: -

Identifier Source: org_study_id

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