Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Clinical knowledge
研究概览
简要总结
The aim of this retrospective, multicenter study would be to extend the phenotypic spectrum of DeSanto Shinawi Syndrome and improve the knowledge of its evolution. To this end, the investigators would like to issue a call for international collaboration in order to create a series of new genetically diagnosed patients, not yet described in previous publications, and with a larger number of individuals evaluated in a single study. One of the aims would be to establish a set of standardized clinical and paraclinical examinations to be carried out at diagnosis and for follow-up of affected patients. This would enable patients, their families and the caregivers involved to better anticipate future management.
详细描述
Main objective :
Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.
Secondary objectives:
- Inventory the clinical signs of the syndrome described to date and look for recurrence between patients.
- Select a set of standardized clinical and paraclinical examinations for diagnosis.
- Establish appropriate management and follow-up.
- To compare the phenotype of patients with DESSH due to a pathogenic point variation in the WAC gene and those with a microdeletion involving the WAC gene.
Main inclusion criteria:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children and adults of any age.
- •Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).
排除标准
- •Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.
- •Patient having already participated in a DESSH study with published data.
- •No patient data available.
结局指标
主要结局
Clinical knowledge
时间窗: Through study completion, an average of 2 years
Height, weight and head circumferance at birth and at last visit
Paraclinical knowledge
时间窗: Through study completion, an average of 2 years
Any exams performed during lifetime : EEG, neuroMRI, abdominal echography, cardiac echography
次要结局
- Recurrence of clinical signs(Through study completion, an average of 2 years)
- Standardized examinations(Through study completion, an average of 2 years)
- Management & Follow-up(Through study completion, an average of 2 years)
- Genotype phenotype correlation(Through study completion, an average of 2 years)