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

Study Purpose

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 Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

Searching Both is inclusive of interventional and observational studies.

Eligible Ages N/A and Over
Gender All
More Inclusion & Exclusion Criteria

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

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Maastricht University Medical Center
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Antoni Gostynski, MD, PhD
Principal Investigator Affiliation Maastricht University Medical Center
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries Netherlands

The disease, disorder, syndrome, illness, or injury that is being studied.

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


: 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.


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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

International Sites

Maastricht University Medical Center, Maastricht, Limburg, Netherlands




Maastricht University Medical Center

Maastricht, Limburg, 6202 AZ

Site Contact

Fauve C van Veen

[email protected]


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