Reproductive Options in Inherited Skin Diseases

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.

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Key information

Conditions

Ichthyosis 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 DNA Repair-Deficiency Disorders Ectodermal Dysplasia Epidermolysis Bullosa Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hamartoma Heredodegenerative Disorders, Nervous System Hypopigmentation 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 Photosensitivity Disorders Pigmentation Disorders Precancerous Conditions Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases Stomatognathic Diseases Tuberous Sclerosis Xeroderma Pigmentosum

Sex eligibility

All sexes

Study type

Observational

Primary location

Maastricht University Medical Center

Maastricht, Limburg, 6202AZ, Netherlands

Who can participate

Healthy volunteers accepted: No

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

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.

Treatment and study plan

Primary outcomes

Assessment of clinical outcomes of reproductive options

Time frame: 2-3 years

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%.

Sponsors and collaborators

Lead sponsor

Maastricht University Medical Center

Other

Registry information

Official study title

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

Acronym: REPRO-ISD

Important dates

Study start: 2024
Primary completion: 2026
Study completion: 2026
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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