Clinical trial NCT03139903: The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II
Official title: The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Microcephalic Osteodysplastic Primordial Dwarfism Type II
Seckel Syndrome
Keywords: Seckel Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism Type II
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2017-05-04
Enrollment: 30
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with Primordial Dwarfisms have been followed by network geneticists for which there is no systematic and homogeneous collection of biological, radiological and clinical data

Brief summary: 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).

Detailed description: 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.

Visit 2:

* Full Clinical Examination
* Cerebral angiography-MRI for all patients
* Programming a neurosurgery / neurovascular consultation based on MRI results
* Immuno-hematology and hepato-gastroenterology consultation if anomaly during the visit V1

Annual follow-up visit:

* Assessment of the complications of the disease and its clinical care
* Full clinical examination
* Skeletal x-ray and systematic orthopedic consultation
* Blood Check
* Prescription of tests if necessary depending to the complications identified of the disease
* Reevaluation of the care according to the detected symptoms

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* 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.

Primary outcomes:
measure: to visualize any vascular abnormalities according the cerebral angiography-MRI
timeFrame: 10 months
Secondary outcomes:
measure: Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV)
timeFrame: 2 days
measure: Measurement of visual acuity
timeFrame: 2 days
Other outcomes:
Locations:
city: Paris
country: France
facility: Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital
Study officials:
affiliation: Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France
name: CORMIER-DAIRE Valérie, PhD
role: PRINCIPAL_INVESTIGATOR
References: