Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis
Conditions
Brief 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.
Interventions
OTHERBiological samples
Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping
OTHERSkin biopsy
healthy skin from surgery interventions
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
15 Years to 80 Years
Healthy volunteers
Yes
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies | Up to 6 months post inclusion | A two-fold increase or decrease in the transcript or protein levels between patients with different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify upregulated and downregulated genes. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes) | Up to 6 months post inclusion | To determine, in vitro, the contribution from ARCI and EI keratinocytes in the overall transcriptomic and proteomic signature observed in vivo. A two-fold increase or decrease in the transcript or protein levels between patients and controls (th different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify upregulated and downregulated genes. |
| Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs) | Up to 6 months post inclusion | — |
Countries
France
Outcome results
None listed