The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- to visualize any vascular abnormalities according the cerebral angiography-MRI
研究概览
简要总结
The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).
详细描述
Multicentre study, aiming to determine morphological and epidemiological parameters and identify new symptoms in French patients with SCKL or MOPDII.
At pre-inclusion visit: Realization of the photographs of: the face, entire body and the extremities (hands and feet) that will be serve for the collegiate decision of the inclusion or not of patients.
Patients are seen at inclusion V1 , a second visit V2 at 6-10 months after V1 and an annual follow-up visit.
At inclusion:
- Full Clinical Examination, specialized consultations (Otorhinolaryngology, stomatology, orthopedics, ophthalmology)
- Results of x-ray examinations and biological tests
- Assessment of the patients competencies and initiation of appropriate care ( orthophony and psychomotricity...)
- Assessment of intelligence and cognitive ability according the WISC-IV scale
- Blood testing for diagnosis and research.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 2 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients aged from 2 months to 50 years must present all of the following criteria:
- •Symmetrical intrauterine growth restriction (IUGR) < - 2 DS, Birth size <-2 DS and Cranial perimeter of birth <-2 DS
- •Postnatal growth restriction (size <-4DS)
- •Microcephaly <-4DS
- •Clinical Diagnosis of Seckel Syndrome or Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) by a geneticist
- •Having given free and informed consent
排除标准
- •Refutation of the diagnosis
- •Parents' refusal to participate in genetic studies once the diagnosis of SCKL or MOPDII has been establish for the patient (major or minor)
- •Allergy to gadolinium, contraindicating the realization of an Angio-MRI
- •Absence of affiliation to a social security scheme or Universal Health Coverage.
结局指标
主要结局
to visualize any vascular abnormalities according the cerebral angiography-MRI
时间窗: 10 months
次要结局
- Measurement of visual acuity(2 days)
- Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV)(2 days)