Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis (NCT05312073) | Clinical Trial Compass
CompletedNot Applicable
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
France18 participantsStarted 2022-12-07
Plain-language summary
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
Who can participate
Age range
15 Years – 80 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Aged 15-80 years old
* Having an ARCI or EI, confirmed by a molecular diagnosis of a mutation in at least one of the following genes: TGM1, ALOX12B, NIPAL4, ABCA12, keratin 1 and keratin 10)
* Having stopped all topical treatments in at least 1% of the total body surface (equivalent to one palm of the hand of the patient), at least 8 days before the skin biopsy (which will be performed on this untreated area).
* Patients having a molecular diagnostic of genetic ichtyosis
* No contraindication to skin biopsy
* Health insurance coverage
* Signature of written consent
Exclusion Criteria:
* Aged less than 15 of over 80 years old
* Ichtyosis without a molecular confirmed diagnosis or with a different diagnosis
* History, in the 8 previous days, of any topical treatment on the area intended for the skin biopsy.
* No health insurance coverage
* Pregnant or breastfeeding woman
* Patient under guardianship or curatorship
* Patient under State Medical Assistance (AME)
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies