Reproductive Options in Inherited Skin Diseases

Epidermolysis Bullosa Clinical Trial

— REPRO-ISD  

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT06330324
• Other study ID #: METC 2023-0182
• Status: Enrolling by invitation
• Start date: January 1, 2024
• Est. completion date: September 1, 2026

Study information

• Verified date: March 2024
• Source: Maastricht University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 650
• Est. completion date: September 1, 2026
• Est. primary completion date: September 1, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Albinism
• Basal Cell Nevus Syndrome
• Birt-Hogg-Dube Syndrome
• Cutis Laxa
• Ectodermal Dysplasia
• Epidermolysis Bullosa
• Ichthyosis
• Keratosis
• Skin Diseases
• Syndrome
• Tuberous Sclerosis
• Xeroderma Pigmentosum

Locations

Country	Name	City	State
Netherlands	Maastricht University Medical Center	Maastricht	Limburg

Sponsors (1)

Lead Sponsor	Collaborator
Maastricht University Medical Center

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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