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CompletedNCT01565005MICROFANCUpdated Mar 2, 2018

Microcephaly Genetic Deficiency in Neural Progenitors

An observational study in Microcephaly, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 3 Years and older. Per ClinicalTrials.gov, last updated 2018-03-02.

Sponsored by Assistance Publique - Hôpitaux de Paris · Observational

Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
98
Ages
3 Years and older
Sex
All
01

Study summary

The purpose of this study is to:

I. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations)

II. Describe the neuro-radiological and cognitive phenotype of microcephalic patients suffering from Fanconi anemia, and compared them to subjects with:

  • Fanconi anemia but normal OFC (head circumference)
  • MCPH patients
  • Healthy control subjects Our hypothesis is that mutations in genes responsible of microcephaly impact differentially cortical brain development and functioning
Read the detailed description

Phenotyping study on 2 different cohorts of rare disease affected patients:

  • Group1: MCPH (including different MCPH subtypes)
  • Group2: Fanconi Anemia (with or without microcephaly)

Inclusion criteria:

Common to each group:

  • Age > 3 years
  • Access to french "Social Security"
  • No contraindication for MRI

Group1:

  • Primary microcephaly without gross malformation within or extra nervous central system
  • OFC \< -2SD at birth and \< -3 SD after age 6months
  • Mutation in one MCPH gene

Group2:

Proven Fanconi Anemia with:

  • Positive chromosome breakage blood test
  • One of the 3 following elements:

FANCD2 positive test Fibroblast sensitivity to mitomycin Mutation in one FANC gene

Control subjects:

  • No antecedent
  • Normal education

Aims:

  1. Description of neurological, neuropsychological and radiological phenotype for each group

  2. Phenotype comparison:

    • groups 1\&2
    • group1 or 2 with control subjects
    • different MCPH subtypes within group1
    • with or without microcephaly within group2
  3. Epidemiological data on these rare diseases in our population

Protocol:

Patients from both groups and control subjects will be evaluated in CIC for 1 day ½. They will be examined by a child neurologist and a geneticist. All of them will have cranial MRI (1.5Tesla). Neuropsychological assessment will be performed (Wechsler scales) for patients and control subjects.

02

Conditions studied

  • Microcephaly

Keywords

  • MCPH
  • FANCONI ANEMIA
03

In context

Microcephaly

22 studies on the registry are indexed under Microcephaly; 5 are open to participants now.

This study's enrollment of 98 is below the median of 232 across 16 observational studies indexed under Microcephaly.

Browse Microcephaly studies →

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,592 studies on the registry; 1,033 are open to participants now.

Browse Assistance Publique - Hôpitaux de Paris studies →

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
3 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Group1:

  • Primary microcephaly without gross malformation within or extra nervous central system
  • OFC \< -2SD at birth and \< -3 SD after age 6months
  • Mutation in one MCPH gene

Group2:

Proven Fanconi Anemia with:

  • Positive chromosome breakage blood test
  • One of the 3 following elements:

FANCD2 positive test Fibroblast sensitivity to mitomycine Mutation in one FANC gene

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

Patients aged ≥ 3 years:

  • Microcephalic phenotype consistent with MCPH (recruitment already done as part of a network GIS-Rare Diseases Institute). MCPH patients have already been selected in the cohort "Robert Debré."
  • Holders of a Fanconi anemia characterized in terms of cytogenetics, enzyme and/or molecular (patients in the cohort "Saint Louis" followed by the KRC rare aplastic anemia)
  • Healthy controls aged ≥ 5 years siblings of patients with Fanconi Anemia

Exclusion criteria

Exclusion Criteria:

Patients with Fanconi anemia:

  • bone marrow \< 3 years
  • Post-transplantation neurological complications
  • developmental, genetic or environmental additional pathology
05

Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
98 participants (actual)

Groups and cohorts

  • Microcephaly

    Microcephaly Intellectual abilities Cranial MRI

  • FANCONI ANEMIA
06

What researchers measure

Primary outcomes

  1. Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients

    The purpose of this study is to: Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations)

    Time frame: 3 years

Secondary outcomes

  1. Establish a clear organizational chart for the diagnosis of primary microcephaly

    I. Establish a clear organizational chart for the diagnosis of primary microcephaly from the detailed description of the patient's phenotype II. Establish epidemiological data on the molecular genetic causes involved in human primary microcephaly

    Time frame: 3 years

07

Study locations

1 site
  • Robert Debre Hospital
    Paris, 75019, France
08

References and documents

Publications

  • Ruaud L, Drunat S, Elmaleh-Berges M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Neurological outcome in WDR62 primary microcephaly. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. PubMed 35726608 ↗
  • Nasser H, Vera L, Elmaleh-Berges M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Heron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3. PubMed 32015000 ↗
09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Ran from Oct 2013 to primary completion in Dec 2017, 50 months.

How these figures are worked out, and which studies are left out of them.

Registered
Feb 29, 2012
First posted
Mar 28, 2012
StartActual
Oct 2013
Primary completionActual
Dec 2017
CompletionActual
Dec 2017
Last update
Mar 2, 2018
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Mar 2, 2018, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01565005
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Responsible party
Sponsor
First posted
Mar 28, 2012
Start date
Oct 2013
Primary completion
Dec 2017
Completion
Dec 2017
Last update
Mar 2, 2018

Study contacts

Alain VERLOES, PU-PH
principal investigator · Assistance Publique - Hôpitaux de Parsi

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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This study is completed, as verified in Feb 2018. You cannot join it, but the record below documents what was studied.

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