MicrocephalyMICROFANCNCT01565005
Microcephaly Genetic Deficiency in Neural Progenitors
An observational study of Microcephaly, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Microcephaly
- How many people
- 98 participants
- Where
- 1 siteFrance
- Study dates
- Oct 2013to Dec 2017
- 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 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- Patients with Fanconi anemia:
- bone marrow < 3 years
- Post-transplantation neurological complications
- developmental, genetic or environmental additional pathology
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA)
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)
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:
- Description of neurological, neuropsychological and radiological phenotype for each group
- Phenotype comparison:
- groups 1\&2
- group1 or 2 with control subjects
- different MCPH subtypes within group1
- with or without microcephaly within group2
- 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.
- Conditions
- Microcephaly
- Keywords
- MCPH, FANCONI ANEMIA
- Medical subject headings
- Microcephaly, Fanconi Anemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Microcephaly | Microcephaly Intellectual abilities Cranial MRI | |
| FANCONI ANEMIA | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 3 years
Secondary outcomes (1)
Establish a clear organizational chart for the diagnosis of primary microcephaly
- 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
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Mar 2012 (estimated)
- Study startOct 2013
- Primary completionDec 2017
- Study completionDec 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for MicrocephalyStudies 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 98 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alain VERLOES, PU-PH, Principal investigator, Assistance Publique - Hôpitaux de Parsi
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01565005
- Sponsor's protocol ID
- P 100128
- Acronym
- MICROFANC
- Status last verified
- Feb 2018
- First submitted
- 29 Feb 2012
- Last updated
- 2 Mar 2018
- Results posted
- No
- Data monitoring committee
- No
Publications
Gins C, Guimiot F, Drunat S, Prevost C, Rosenblatt J, Capri Y, Letard P, Khung-Savatovsky S, Mahi Henni MA, Elalaoui SC, Alison M, Guilmin Crepon S, Gressens P, Verloes A, Basto R, El Ghouzzi V, Passemard S. Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene. Neurol Genet. 2025 Mar 26;11(2):e200221. doi: 10.1212/NXG.0000000000200221. eCollection 2025 Apr.
PubMed 40151166Ruaud 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 35726608Nasser 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
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA)
- ClinicalTrials.gov ID
- NCT01565005
- Acronym / sponsor ID
- MICROFANC / P 100128
- Conditions
- Microcephaly
- Keywords
- MCPH, FANCONI ANEMIA
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 98 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Oct 2013 (actual)
- Primary completion
- Dec 2017 (actual)
- Study completion
- Dec 2017 (actual)
- First posted
- 28 Mar 2012 (estimated)
- 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 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)
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
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:
- Description of neurological, neuropsychological and radiological phenotype for each group
- Phenotype comparison:
- groups 1\&2
- group1 or 2 with control subjects
- different MCPH subtypes within group1
- with or without microcephaly within group2
- 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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Microcephaly | – | –Microcephaly Intellectual abilities Cranial MRI |
| FANCONI ANEMIA | – | – |
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (4 listed)
- bone marrow < 3 years
- Post-transplantation neurological complications
- developmental, genetic or environmental additional pathology
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
Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients
Time frame: 3 years
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)
1 secondary outcome
Establish a clear organizational chart for the diagnosis of primary microcephaly
Time frame: 3 years
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 2 Mar 2018.
- Derived from this study: PubMed 40151166Gins C, Guimiot F, Drunat S, Prevost C, Rosenblatt J, Capri Y, Letard P, Khung-Savatovsky S, Mahi Henni MA, Elalaoui SC, Alison M, Guilmin Crepon S, Gressens P, Verloes A, Basto R, El Ghouzzi V, Passemard S. Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene. Neurol Genet. 2025 Mar 26;11(2):e200221. doi: 10.1212/NXG.0000000000200221. eCollection 2025 Apr.
- Derived from this study: PubMed 35726608Ruaud 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.
- Derived from this study: PubMed 32015000Nasser 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.
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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.
Alain VERLOES, PU-PH principal investigator
Assistance Publique - Hôpitaux de Parsi
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 Microcephaly, 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 4 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 2 Mar 2018. 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?
Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01565005, which also lists 3 linked publications.
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 2 Mar 2018.