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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
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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).

Condition or disease
Microcephalic Osteodysplastic Primordial Dwarfism Type II Seckel Syndrome

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
Actual Enrollment : 30 participants
Observational Model: Family-Based
Time Perspective: Retrospective
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





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

Secondary Outcome Measures :
  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 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   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
Criteria

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.

Information from the National Library of Medicine

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


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

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT03139903     History of Changes
Other Study ID Numbers: P081256
First Posted: May 4, 2017    Key Record Dates
Last Update Posted: November 20, 2017
Last Verified: November 2017

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Seckel Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism Type II

Additional relevant MeSH terms:
Microcephaly
Syndrome
Dwarfism
Dwarfism, Pituitary
Fetal Growth Retardation
Osteochondrodysplasias
Facies
Disease
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn
Endocrine System Diseases
Bone Diseases, Endocrine
Hypopituitarism
Pituitary Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities
Fetal Diseases
Pregnancy Complications
Growth Disorders