Who may be eligible for the Reproductive Options in Inherited Skin Diseases trial?

Inclusion Criteria: * Couples affected with molecularly confirmed genodermatosis (i.e., keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) * Prenatal diagnosis (PND) was performed and/or in vitro fertilisation (IVF) with pre-implantation genetic testing was performed (PGT). Exclusion Criteria: * No exclusion criteria were formulated.

ClinicalTrials.gov record NCT06330324

Reproductive Options in Inherited Skin Diseases

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusEnrolling by invitationThe study enrols only people the study team invites, for example patients already at a particular clinic. It is not open to the public.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexAll

LocationNetherlands

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a retrospective observational study that collects past clinical and reproductive data from people or couples affected by inherited skin diseases. It focuses on cases where prenatal diagnosis (PND) and/or preimplantation genetic testing (PGT) were considered or performed. The investigators will summarize indications, test results, pregnancy outcomes, and decision-making around these reproductive options.

What it is studying. The study aims to learn how and why prenatal diagnosis (PND) and preimplantation genetic testing (PGT) are used for people with inherited skin diseases, and to summarize the clinical outcomes of those reproductive choices.

What the researchers hope to learn. To document indications for PND and PGT, describe decision-making processes, report results of PND/PGT and pregnancy outcomes (including rates of affected embryos per PGT cycle), and provide a complete overview to inform reproductive counselling for patients with genodermatoses.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

Couples affected with molecularly confirmed genodermatosis (i.e., keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses)
Prenatal diagnosis (PND) was performed and/or in vitro fertilisation (IVF) with pre-implantation genetic testing was performed (PGT).

Exclusion criteria

No exclusion criteria were formulated.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a retrospective observational study: investigators will collect past clinical and reproductive data about PND and/or PGT, including test results and pregnancy outcomes. Participants will be asked to allow researchers to use relevant medical and reproductive records for the study. No study treatments are assigned.

How the study is structured. A retrospective observational cohort: researchers will collect and analyze existing clinical and reproductive records from people or couples with molecularly confirmed inherited skin disorders. No experimental treatments are assigned; the study summarizes past PND and PGT procedures, results, and outcomes.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The registry says participants are enrolled by invitation. Who decides who is invited, and how?
The listed sites are in Netherlands. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

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Important dates

Study start: Jan 1, 2024
Primary completion: Sep 1, 2026 (estimated)
Study completion: Sep 1, 2026 (estimated)
Target enrollment: 650 participants (estimated)
Last updated on registry: May 18, 2025
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Maastricht University Medical Center

Participating sites (1)

Maastricht University Medical Center
Maastricht, Limburg, 6202AZ · Netherlands

Terms used on this page · explanations by MedicalUpdates.ai

cohort: A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
exclusion criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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