OMICHTYOSE: Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Other: Patients with ichtyosis
|
Other: Biological samples
Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping
|
| Other: Patients without ichtyosis
|
Other: Skin biopsy
healthy skin from surgery interventions
|
Outcome Measures
Primary Outcome Measures
- 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 Outcome Measures
- 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]
Eligibility Criteria
Criteria
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)
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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).
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No contraindication to skin biopsy
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Health insurance coverage
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Signature of written consent
Exclusion Criteria:
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Aged less than 15 of over 80 years old
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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)
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Saint Louis Hospital | Paris | France | 75010 |
Sponsors and Collaborators
- Assistance Publique - Hôpitaux de Paris
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- APHP210692