Qualitative Study in Patients With Genodermatoses 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.

Recruiting

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Key information

Conditions

Quality of Life Abnormalities, Multiple Albinism Amino Acid Metabolism, Inborn Errors Basal Cell Nevus Syndrome Birt-Hogg-Dube Syndrome Bone Cysts Bone Diseases Bone Diseases, Developmental Carcinoma Carcinoma, Basal Cell Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Cutis Laxa Cysts Ectodermal Dysplasia Epidermolysis Bullosa Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hamartoma Heredodegenerative Disorders, Nervous System Hypopigmentation Ichthyosis Infant, Newborn, Diseases Jaw Cysts Jaw Diseases Keratoderma, Palmoplantar Keratosis Malformations of Cortical Development Malformations of Cortical Development, Group I Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Diseases Neoplasms Neoplasms by Histologic Type Neoplasms, Basal Cell Neoplasms, Glandular and Epithelial Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Malformations Neurocutaneous Syndromes Neurodegenerative Diseases Nutritional and Metabolic Diseases Odontogenic Cysts Palmoplantar Keratoses Pigmentation Disorders Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases Stomatognathic Diseases Tuberous Sclerosis

Sex eligibility

All sexes

Study type

Observational

Primary location

Maastricht University Medical Center

Maastricht, Limburg, 6202 AZ, Netherlands

Location status: Recruiting

Location contact

Fauve C van Veen

CONTACT

[email protected]

+31433877293

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Qualitative interview

Other

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

Primary outcomes

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.

Study contacts

Contact information is provided by the study sponsor or research team.

Fauve C van Veen, MD

CONTACT

[email protected]

+31433877293

Sponsors and collaborators

Lead sponsor

Maastricht University Medical Center

Other

Registry information

Official study title

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

Important dates

Study start: 2024
Primary completion: 2025
Study completion: 2025
First posted: Mar 26, 2024
Registry last updated: May 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Recruiting