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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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

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 Summary:

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 cli
    Sponsor: Assistance Publique - Hôpitaux de Paris

    Current Primary Outcome: to visualize any vascular abnormalities according the cerebral angiography-MRI [ Time Frame: 10 months ]

    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    • 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 ]


    Original Secondary Outcome: Same as current

    Information By: Assistance Publique - Hôpitaux de Paris

    Dates:
    Date Received: March 23, 2017
    Date Started: July 28, 2010
    Date Completion:
    Last Updated: May 2, 2017
    Last Verified: March 2017