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CompletedNCT03139903NANPIMUpdated Nov 20, 2017

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

An observational study in Microcephalic Osteodysplastic Primordial Dwarfism Type II and Seckel Syndrome, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 2 Months and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2017-11-20.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Family-based
Time perspective
Retrospective
Enrollment
30
Ages
2 Months and older
Sex
All
01

Study 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).

Read the 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
02

Conditions studied

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II
  • Seckel Syndrome

Keywords

  • Seckel Syndrome
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II
03

Who can participate

Ages eligible
2 Months and older
Sexes eligible
All
Accepts healthy volunteers
Yes
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

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

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.
04

Study design

Observational model
Family-based
Time perspective
Retrospective
Enrollment
30 participants (actual)
Patient registry
No
05

What researchers measure

Primary outcomes

  1. to visualize any vascular abnormalities according the cerebral angiography-MRI

    Time frame: 10 months

Secondary outcomes

  1. Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV)

    Time frame: 2 days

  2. Measurement of visual acuity

    Time frame: 2 days

06

Study locations

1 site
  • Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital
    Paris, 75743, France
07

Registry details

Key details

Study ID
NCT03139903
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Responsible party
Sponsor
First posted
May 4, 2017
Start date
Jul 28, 2010
Primary completion
Jul 16, 2013
Completion
Jul 2015
Last update
Nov 20, 2017

Study contacts

CORMIER-DAIRE Valérie, PhD
principal investigator · Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France

Oversight

Data monitoring committee
No
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