An observational study in Quality of Life, Ichthyosis and Palmoplantar Keratoses, sponsored by Maastricht University Medical Center. Recruiting at 1 site in Netherlands. Per ClinicalTrials.gov, last updated 2025-05-18.
Sponsored by Maastricht University Medical Center · Observational
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.
33 studies on the registry are indexed under Ichthyosis; 11 are open to participants now.
Browse Ichthyosis studies →Maastricht University Medical Center is the lead sponsor of 853 studies on the registry; 114 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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).
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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 comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
Other: Qualitative interview
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
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
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
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.
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.
Time frame: 1 day
Started Jan 2024 (actual). Primary completion is estimated for Aug 2025, 19 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Maastricht University Medical Center →