The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (NANPIM)

The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).

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).

Study Overview

• Status: Completed
• Conditions: Seckel Syndrome; Microcephalic Osteodysplastic Primordial Dwarfism Type II

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

• Study Type: Observational
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• France
  • Paris, France, 75743
    • Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
to visualize any vascular abnormalities according the cerebral angiography-MRI	10 months

Secondary Outcome Measures

Outcome Measure	Time Frame
Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV)	2 days
Measurement of visual acuity	2 days

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Principal Investigator: CORMIER-DAIRE Valérie, PhD, Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France

Study record dates

Study Major Dates

• Study Start (Actual): July 28, 2010
• Primary Completion (Actual): July 16, 2013
• Study Completion (Actual): July 1, 2015

Study Registration Dates

• First Submitted: March 23, 2017
• First Submitted That Met QC Criteria: May 2, 2017
• First Posted (Actual): May 4, 2017

Study Record Updates

• Last Update Posted (Actual): November 20, 2017
• Last Update Submitted That Met QC Criteria: November 17, 2017
• Last Verified: November 1, 2017

More Information

Terms related to this study

• Keywords: Seckel Syndrome; Microcephalic Osteodysplastic Primordial Dwarfism Type II
• Additional Relevant MeSH Terms: Pathologic Processes; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Endocrine System Diseases; Disease Attributes; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Hypothalamic Diseases; Bone Diseases; Fetal Diseases; Pregnancy Complications; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Bone Diseases, Endocrine; Pituitary Diseases; Growth Disorders; Bone Diseases, Developmental; Hypopituitarism; Syndrome; Microcephaly; Fetal Growth Retardation; Dwarfism, Pituitary; Osteochondrodysplasias; Facies; Dwarfism
• Other Study ID Numbers: P081256