Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
试验速览
- 阶段
- 不适用
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Genetic diagnostic by mendeliome
研究概览
简要总结
The goal of the study is to develop a method of genetic diagnosis in two stages, by mendelioma then by genome and transcriptome on fibroblast culture, in genodermatoses and rare diseases with cutaneous expression in the child.
详细描述
Interventional multicenter prospective study. Patients will be examined by a dermatologist to describe and identify the various skin lesions Collaboration with the geneticist team: clinical examination for relevant cases Patient records will be consulted. Relevant medical information, biological examinations and other complementary examinations will be studied.
A blood sample (10 ml in EDTA tube) will be collected from the patient and his/her parents to store DNA for mediome and genome.
A written parental and child consent (if age-appropriate) will be obtained and a study information sheet will be signed. They will also sign the usual genetic consent request for mendeliome, genome and transcriptome on culture of fibroblasts.
A 4 mm punch skin biopsy (healthy or damaged depending on phenotype and indication) will be performed according to the standard technique.
The fibroblast culture will be performed routinely by the Genetics Center Transcriptome will be done according to the processes set up at the Genetics Center Mendeliome analysis
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children between 0 to 18 years old
- •Presence of dermatological symptoms suggesting genodermatosis
- •Presence of systemic symptoms in an undiagnosed patient associated with dermatological manifestations suggestive of a more rare genetic disorder with cutaneous expression
排除标准
- •Mosaicism
- •Neurofibromatosis, all type
- •Tuberous sclerosis
- •Ichthyosis vulgaris
- •Suspicion of somatic impairment (giant nevus)
研究组 & 干预措施
Genodermatosis patients
Children between 0 to 18 years old with the presence of dermatological symptoms suggesting genodermatosis or presence of systemic symptoms in an undiagnosed patient associated with dermatological manifestations suggestive of a more rare genetic disorder with cutaneous expression
干预措施: Genetic diagnostic by mendeliome or genome (Genetic)
结局指标
主要结局
Genetic diagnostic by mendeliome
时间窗: At time of clinical diagnosis of genodermatosis
Proportion of patients for whom a genetic diagnosis has been established using the mendeliome method. American College of Medical Genetics and Genomics. Diagnostic variants are classified as "pathogenic" or "probably pathogenic" variants.
次要结局
- Genetic diagnostic by genome(At time of clinical diagnosis of genodermatosis)
- Genetic diagnostic by fibroblast transcriptome(At time of clinical diagnosis of genodermatosis)
- Relevance of dermatological symptoms(At time of clinical diagnosis of genodermatosis)