Microcephalic Osteodysplastic Primordial Dwarfism Type IINANPIMNCT03139903
The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II
An observational study of Microcephalic Osteodysplastic Primordial Dwarfism Type II and Seckel Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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 more about this study
- Who is it for?
- Ages 2 months and olderHealthy volunteers can take part
- Conditions the study is for
- Microcephalic Osteodysplastic Primordial Dwarfism Type II, Seckel Syndrome
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 28 Jul 2010to Jul 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
France1 site
Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital
Paris, 75743
About this study
Official title: The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).
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
- Keywords
- Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Medical subject headings
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II, Seckel syndrome 1
What is being measured
The primary outcome is the main question the study is designed to answer.
to visualize any vascular abnormalities according the cerebral angiography-MRI
Measured: 10 months
Secondary outcomes (2)
Assessment of intelligence and cognitive ability according the Wechsler Intelligence Scale for Children (WISC-IV)
Measured: 2 days
Measurement of visual acuity
Measured: 2 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 May 2017
- Study start28 Jul 2010
- Primary completion16 Jul 2013
- Study completionJul 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Microcephalic Osteodysplastic Primordial Dwarfism Type IIStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Retrospective
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- CORMIER-DAIRE Valérie, PhD, Principal investigator, Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03139903
- Sponsor's protocol ID
- P081256
- Acronym
- NANPIM
- Status last verified
- Nov 2017
- First submitted
- 23 Mar 2017
- Last updated
- 20 Nov 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII).
- ClinicalTrials.gov ID
- NCT03139903
- Acronym / sponsor ID
- NANPIM / P081256
- Keywords
- Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 28 Jul 2010 (actual)
- Primary completion
- 16 Jul 2013 (actual)
- Study completion
- Jul 2015 (actual)
- First posted
- 4 May 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Ages
- 2 months and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
to visualize any vascular abnormalities according the cerebral angiography-MRI
Time frame: 10 months
2 secondary outcomes
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Nov 2017.
Related trials for Microcephalic Osteodysplastic Primordial Dwarfism Type II
RecruitingObservational study
Primordial Dwarfism Registry
MOPDII, Meier-Gorlin Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
CORMIER-DAIRE Valérie, PhD principal investigator
Medical Genetics Department and INSERM U781, Necker-Enfants Malades Hospital, 75743 Paris, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Microcephalic Osteodysplastic Primordial Dwarfism Type II and Seckel Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 20 Nov 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
to visualize any vascular abnormalities according the cerebral angiography-MRI (time frame: 10 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Nov 2017.