IchthyosisREPRO-ISDNCT06330324
Reproductive Options in Inherited Skin Diseases
An observational study of Ichthyosis and Palmoplantar Keratoses, run by Maastricht University Medical Center at 1 site in Netherlands.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- How many people
- 650 participants
- Where
- 1 siteNetherlands
- Study dates
- 1 Jan 2024to 1 Sep 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
Who cannot join
- No exclusion criteria were formulated.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Netherlands1 site
Maastricht University Medical Center
Maastricht, Limburg, 6202AZ
About this study
Official title: Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study
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
- Medical subject headings
- Ichthyosis, Keratoderma, Palmoplantar, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome, Birt-Hogg-Dube Syndrome, Tuberous Sclerosis, Xeroderma Pigmentosum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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%.
Measured: 2-3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Mar 2024
- Study start1 Jan 2024
- Primary completion1 Sep 2026 (estimated)
- Study completion1 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for IchthyosisStudies of the same condition, open and under way.
- More trials run by Maastricht University Medical CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 650 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Maastricht University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Antoni Gostynski, MD, PhD, Principal investigator, Maastricht University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06330324
- Sponsor's protocol ID
- METC 2023-0182
- Acronym
- REPRO-ISD
- Status last verified
- May 2025
- First submitted
- 11 Mar 2024
- Last updated
- 18 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study
- ClinicalTrials.gov ID
- NCT06330324
- Acronym / sponsor ID
- REPRO-ISD / METC 2023-0182
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome, Birt-Hogg-Dube Syndrome
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 650 participants (estimated)
- Lead sponsor
- Maastricht University Medical CenterUniversity, hospital or other
- Study start
- 1 Jan 2024 (actual)
- Primary completion
- 1 Sep 2026 (estimated)
- Study completion
- 1 Sep 2026 (estimated)
- First posted
- 26 Mar 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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).
Key exclusion criteria (1 listed)
- No exclusion criteria were formulated.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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%.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 May 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Antoni Gostynski, MD, PhD principal investigator
Maastricht University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ichthyosis and Palmoplantar Keratoses, run by Maastricht University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 18 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of clinical outcomes of reproductive options (time frame: 2-3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 May 2025.