The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (NANPIM)
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|ClinicalTrials.gov Identifier: NCT03139903|
Recruitment Status : Completed
First Posted : May 4, 2017
Last Update Posted : November 20, 2017
|Condition or disease|
|Microcephalic Osteodysplastic Primordial Dwarfism Type II Seckel Syndrome|
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.
- 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.
- 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|
|Actual Enrollment :||30 participants|
|Official Title:||The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).|
|Actual Study Start Date :||July 28, 2010|
|Actual Primary Completion Date :||July 16, 2013|
|Actual Study Completion Date :||July 2015|
- to visualize any vascular abnormalities according the cerebral angiography-MRI [ Time Frame: 10 months ]
- Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV) [ Time Frame: 2 days ]
- Measurement of visual acuity [ Time Frame: 2 days ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03139903
|Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital|
|Paris, France, 75743|
|Principal Investigator:||CORMIER-DAIRE Valérie, PhD||Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France|