An observational study in Ichthyosis, Palmoplantar Keratoses and Epidermolysis Bullosa, sponsored by Maastricht University Medical Center. Enrolling by invitation 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 learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children.
To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.
33 studies on the registry are indexed under Ichthyosis; 11 are open to participants now.
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The study population consists of couples or adult inidividuals with genodermatosis keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, where PND and/or PGT were considered and/or performed.
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.
Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa.
Ectodermal dysplasias consists of multiple inherited disorders that are characterised by abnormalities of the embryonic ectoderm, such as hair, nails, sweat glands or teeth.
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.
In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.
Assessment of clinical outcomes of reproductive options
Outcomes of reproductive options such as prenatal diagnostics (PND) and preimplantation genetic testing (PGT) will be assessed, looking at indications, decision-making by professionals and/or the Dutch national indication committee as to whether or not to start a PGT procedure. The results of PND and PGT, pregnancy outcomes (success rates) and risks (i.e. the risk of miscarriage) will be summarised. The percentage of continuing pregnancies from prenatal screening techniques (especially PGT) will be calculated. In addition, the percentage of affected embryos will be calculated for different genodermatoses per PGT cycle using using the following formula: (number of affected embryos)/(total number of embryos)\*100%.
Time frame: 2-3 years
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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