Reproductive Options in Inherited Skin Diseases

NCT06330324 | Enrolling By Invitation

• 1 other identifier: METC 2023-0182
• Study Type: observational
• Target: 650
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• 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%.

  2-3 years

Study Arms (5)

Keratinisation disorders

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

Skin fragility disorders

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

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.

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 genodermatoses

In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa.

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 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.

You may qualify if:

• 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).

Sponsors & Collaborators

• Maastricht University Medical Center: lead

Study Sites (1)

Maastricht University Medical Center

Maastricht, Limburg, 6202AZ, Netherlands

Location

MeSH Terms

Conditions

Ichthyosis; Keratoderma, Palmoplantar; Epidermolysis Bullosa; Ectodermal Dysplasia; Basal Cell Nevus Syndrome; Birt-Hogg-Dube Syndrome; Tuberous Sclerosis; Xeroderma Pigmentosum; 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; Precancerous Conditions; Photosensitivity Disorders; Pigmentation Disorders; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Connective Tissue Diseases; Eye Diseases, Hereditary; Eye Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hypopigmentation

Study Officials

• Antoni Gostynski, MD, PhD

  Maastricht University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• 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 (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: May 18, 2025

Record last verified: 2025-05

Locations

NL (1)