NCT05312073已完成不适用
Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 18
- 试验地点
- 2
- 主要终点
- Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 15 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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)
结局指标
主要结局
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies
时间窗: 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.
次要结局
- Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)(Up to 6 months post inclusion)
- Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)(Up to 6 months post inclusion)
研究者
研究点 (2)
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