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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-07-28

Study Completion Date

2015-07-31

Brief Summary

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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

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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

Conditions

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Microcephalic Osteodysplastic Primordial Dwarfism Type II Seckel Syndrome

Keywords

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Seckel Syndrome Microcephalic Osteodysplastic Primordial Dwarfism Type II

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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.

Minimum Eligible Age

2 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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CORMIER-DAIRE Valérie, PhD

Role: PRINCIPAL_INVESTIGATOR

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

Locations

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Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital

Paris, , France

Site Status

Countries

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France

Other Identifiers

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P081256

Identifier Type: -

Identifier Source: org_study_id