Quality of LifeNCT06330350
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
An observational study of Quality of Life and Ichthyosis, run by Maastricht University Medical Center at 1 site in Netherlands.
Trial summary
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Quality of Life, Ichthyosis, Palmoplantar Keratoses
- What is being tested?
- Qualitative interview
- How many people
- 25 participants
- Where
- 1 siteNetherlands
- Study dates
- 1 Jan 2024to 31 Dec 2025
- 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 adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children, and health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists).
Who may be able to join
- Adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children
- Patients with clinically and molecularly confirmed variant of a genodermatosis
- Health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists)
Who cannot join
- Not being able to communicate verbally in Dutch or English
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, 1 recruiting
- Recruiting
Maastricht University Medical Center
Maastricht, Limburg, 6202 AZ
Fauve C van Veen, +31433877293, genodermatose@mumc.nl
About this study
Official title: Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome
- Being tested
- Qualitative interview
- Medical subject headings
- Ichthyosis, Keratoderma, Palmoplantar, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome, Birt-Hogg-Dube Syndrome, Tuberous Sclerosis, Cutis Laxa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Qualitative interviewOther
Gaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling.
| 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. Receives: Other: Qualitative interview | |
| Skin fragility disorders | Skin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa. Receives: Other: Qualitative interview | |
| 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. Receives: Other: Qualitative interview | |
| 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. Receives: Other: Qualitative interview | |
| Other genodermatoses | In this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa. Receives: Other: Qualitative interview | |
| Health care professionals | This group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses. Receives: Other: Qualitative interview |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making
Qualitative evaluation of the perspectives and needs of patients with genodermatoses and their partners who wish to have children, as well as clinicians involved in the decision-making process and the consideration of reproductive options, such as prenatal diagnosis (PND), pre-implantation genetic testing (PGT), adoption, the use of donor gametes, refraining from having children, natural pregnancy without genetic testing or foster care. And assessing their level of knowledge on these reproductive options.
Measured: 1 day
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 completion31 Aug 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Quality of LifeStudies 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
- Prospective
- Enrolment
- 25 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
- NCT06330350
- Sponsor's protocol ID
- METC 2023-0193
- 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
- Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling
- ClinicalTrials.gov ID
- NCT06330350
- Acronym / sponsor ID
- METC 2023-0193
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia, Basal Cell Nevus Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Maastricht University Medical CenterUniversity, hospital or other
- Study start
- 1 Jan 2024 (actual)
- Primary completion
- 31 Aug 2025 (estimated)
- Study completion
- 31 Dec 2025 (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 understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Keratinisation disorders | – | Other: Qualitative interviewKeratinisation disorders comprise a heterogeneous group characterised by abnormal epidermal differentiation, such as variants of ichthyosis and palmoplantar keratoderma. |
| Skin fragility disorders | – | Other: Qualitative interviewSkin fragility disorders comprise a group of inherited blistering diseases, such as variants of epidermolysis bullosa. |
| Ectodermal dysplasias | – | Other: Qualitative interviewEctodermal 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 | – | Other: Qualitative interviewThis 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 | – | Other: Qualitative interviewIn this group genodermatoses are listed that do not fit the other groups as mentioned above, for example albinism and cutis laxa. |
| Health care professionals | – | Other: Qualitative interviewThis group includes clinical geneticists, dermatologists and other clinicians involved in the care of patients with genodermatoses. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population consists of adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children, and health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists).
Key inclusion criteria (3 listed)
- Adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children
- Patients with clinically and molecularly confirmed variant of a genodermatosis
- Health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists)
Key exclusion criteria (1 listed)
- Not being able to communicate verbally in Dutch or English
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Qualitative interviewGaining insight into the perspectives of patients with genodermatoses and their partners, and health care professionals concerning reproductive decision-making and counselling. | Other | Dermato-oncogenetic syndromes, Ectodermal dysplasias, Health care professionals, Keratinisation disorders, Other genodermatoses, Skin fragility disorders |
Primary outcome
Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making
Time frame: 1 day
Qualitative evaluation of the perspectives and needs of patients with genodermatoses and their partners who wish to have children, as well as clinicians involved in the decision-making process and the consideration of reproductive options, such as prenatal diagnosis (PND), pre-implantation genetic testing (PGT), adoption, the use of donor gametes, refraining from having children, natural pregnancy without genetic testing or foster care. And assessing their level of knowledge on these reproductive options.
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.
Related trials for Quality of Life
RecruitingObservational study
Endoscopic Sleeve Gastroplasty (ESG) Prospective Trial for Obesity (EGO-Trial)
Obesity
RecruitingPhase 4
The Effects of Ferric Derisomaltose in Patients With Acute Heart Failure and Iron Deficiency on Exercise Capacity and Quality of Life(COREVIVE-HFrEF)
Heart Failure With Reduced Ejection Fraction, Iron Deficiency
Recruiting
Study of a Support Program for Quality of Life in Chinese Cancer Patients and Survivors
Cancer, Survivorship
Not yet recruitingObservational study
Functional Impact of Psychological Symptoms in Patients With Superior Semicircular Canal Dehiscence Syndrome (SSCD): a National Cross-sectional Study
Superior Semicircular Canal Dehiscence
Not yet recruitingPhase 2
Alberta Cancer Exercise Dose in Colorectal Cancer
Cancer, Colorectal Cancer
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 Quality of Life and Ichthyosis, 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 3 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: looking for participants now, 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?
Contact Fauve C van Veen, MD (+31433877293, genodermatose@mumc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of perspectives of affected patients + partners and of healthcare professionals concerning reproductive decision-making (time frame: 1 day). 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.