Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Autosomal Recessive Congenital Ichthyosis Clinical Trial

— OMICHTYOSE  

Official title:

Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05312073
• Other study ID #: APHP210692
• Status: Not yet recruiting
• Phase: N/A
• Start date: April 2022
• Est. completion date: February 2023

Study information

• Verified date: March 2022
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Emmanuelle BOURRAT, Dr
• Phone: +331 42 49 90 90
• Email: emmanuelle.bourrat[@]aphp.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 20
• Est. completion date: February 2023
• Est. primary completion date: February 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 15 Years to 80 Years

Eligibility

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).

• 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)

Related Conditions & MeSH terms

• Autosomal Recessive Congenital Ichthyosis
• Epidermolytic Ichthyosis
• Hyperkeratosis, Epidermolytic
• Ichthyosis
• Ichthyosis, Lamellar

Intervention

Other:
• Biological samples
Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping
• Skin biopsy
healthy skin from surgery interventions

Locations

Country	Name	City	State
France	Saint Louis Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies	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.	Up to 6 months post inclusion
Secondary	Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)	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.	Up to 6 months post inclusion
Secondary	Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)		Up to 6 months post inclusion