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

NCT06330350 | Recruiting

• 1 other identifier: METC 2023-0193
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (6)

Keratinisation disorders

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

Other: Qualitative interview

Skin fragility disorders

Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.

Other: Qualitative interview

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

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

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

Health care professionals

This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses.

Other: Qualitative interview

Interventions

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.

Dermato-oncogenetic syndromes; Ectodermal dysplasias; Health care professionals; Keratinisation disorders; Other genodermatoses; Skin fragility disorders

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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)

You may not qualify if:

• Not being able to communicate verbally in Dutch or English

Sponsors & Collaborators

• Maastricht University Medical Center: lead

Study Sites (1)

Maastricht University Medical Center

Maastricht, Limburg, 6202 AZ, Netherlands

RECRUITING

MeSH Terms

Conditions

Ichthyosis; Keratoderma, Palmoplantar; Epidermolysis Bullosa; Ectodermal Dysplasia; Basal Cell Nevus Syndrome; Birt-Hogg-Dube Syndrome; Tuberous Sclerosis; Cutis Laxa; Albinism

Condition Hierarchy (Ancestors)

Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Keratosis; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases, Vesiculobullous; Abnormalities, Multiple; Odontogenic Cysts; Jaw Cysts; Bone Cysts; Cysts; Neoplasms; Carcinoma, Basal Cell; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms, Basal Cell; Neoplastic Syndromes, Hereditary; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Jaw Diseases; Stomatognathic Diseases; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Connective Tissue Diseases; Eye Diseases, Hereditary; Eye Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hypopigmentation; Pigmentation Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Antoni Gostynski, MD, PhD

  Maastricht University Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Fauve C van Veen, MD

CONTACT

+31433877293; genodermatose@mumc.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2024
• First Posted: March 26, 2024
• Study Start: January 1, 2024
• Primary Completion: August 31, 2025
• Study Completion: December 31, 2025
• Last Updated: May 18, 2025

Record last verified: 2025-05

Locations

NL (1)