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Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)

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ClinicalTrials.gov Identifier: NCT04656171
Recruitment Status : Withdrawn (No financement AFAM)
First Posted : December 7, 2020
Last Update Posted : February 3, 2023
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
Fanconi Anemia (FA) is mentioned in children with congenital malformations including kidney, hart and skeletal malformations (absence or abnormal thumb or forearm), and bone marrow failure or myelodysplasia with a progressive onset in childhood or adulthood. No study has focused on microcephaly, a reduction in brain volume, which is present in 20% of children, and its consequences on cognitive and structural level of the brain. Since 2014, Robert-Debré's team has been interested in this functional cognitive and neuroanatomical approach trough a National PHRC. Preliminary results carried out on 12 children show that their intellectual efficiency was in the normal range for age. However, we noticed a significant difference between abilities in comprehension and verbal reasoning corresponding to what is expected for age, and the sensorimotor skills or fine motor praxia significantly reduced. These difficulties, graphically penalizing for these children, are not always explained by a skeletal malformation of the upper limb, suggesting that musculo-tendinous anomalies may be associated. The objectives of our project are: 1) to identify upper limb musculo-tendinous abnormalities and their functional consequences, 2) to determine if these abnormalities could influence the somatosensory representation of the upper limb at the cerebral cortical level. This project should help us to better understand the fine motor disabilities or developmental coordination disorder of these children, which penalize their learning, and provide them with adapted solutions.

Condition or disease Intervention/treatment Phase
Fanconi Anemia Radiation: MRI of the hand and forearm, Not Applicable

Detailed Description:

Our hypothesis is that children with FA present a developmental dyspraxia. This condition is very penalizing for children especially regarding graphic tasks, handwriting, whether or not they have skeletal malformations of the upper limbs. Consequences are fatigue because of energy expended trying to execute fine motor movements correctly.

Main objective:

To identify gesture dyspraxia in order to propose a targeted rehabilitation leading to national recommendations.

Main Evaluation Criteria :

  1. measurement of fine motor praxia
  2. quantification of dyspraxia

Secondary Objectives :

To identify the musculoskeletal or tendinous anomalies in the upper limbs of AF children and to assess their functional consequences.

To determine if these upper limbs abnormalities could influence the somatosensory map of this part of the body in the cerebral cortex.

Secondary Evaluation Criteria :

  1. MRI of the hand and forearm, orthopedic examination and functional assessment
  2. Previously obtained brain MRI data

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 0 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: Microcephaly, Fanconi Anemia and Praxial Disorders
Actual Study Start Date : January 30, 2023
Actual Primary Completion Date : January 30, 2023
Actual Study Completion Date : January 30, 2023

Arm Intervention/treatment
Experimental: Minor patients with Fanconi anemia
MRI of hands and forearm, neuropsychological and neuromotor tests
Radiation: MRI of the hand and forearm,
MRI of the hand and forearm,

Active Comparator: Minor controls
MRI of the hand and forearm, orthopedic evaluation, neuromotor tests of the upper limbs, praxies evaluation, neurocognitive evaluation
Radiation: MRI of the hand and forearm,
MRI of the hand and forearm,

Primary Outcome Measures :
  1. measurement of fine motor praxia [ Time Frame: 24 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Patients with Fanconi Anemia defined according to two of the following diagnostic criteria already included in the MicroFanc study:

    • Chromosome breakage test after exposure to an alkylating agent (mitomycin) on peripheral blood lymphocytes.
    • FancD2 test on lymphocytes or fibroblasts
    • sensitivity of fibroblasts to mitomycin
    • mutation in one of the FANC complementation genes (A, B, C, D1, D2, E, F, G, I, J, L, M, N)
  2. Non-transplanted patients or patients at a distance from CSH transplant (>3 years)
  3. Age ≥5 years of age at inclusion (minimum age of accessibility for neuropsychological tests and no need for sedation for MRI)

Exclusion Criteria:

Subjects for whom both parents have not agreed to participate in the research, or for whom MRI is contraindicated.

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): NCT04656171

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Robert Drbré Hospital
Paris, France, 75019
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Principal Investigator: Sandrine Passemard, MD Assistance Publique - Hôpitaux de Paris
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Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT04656171    
Other Study ID Numbers: APHP200090
N° IDRCB: 2019-A03171-56 ( Registry Identifier: ANSM )
First Posted: December 7, 2020    Key Record Dates
Last Update Posted: February 3, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fanconi Syndrome
Fanconi Anemia
Hematologic Diseases
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Congenital Bone Marrow Failure Syndromes
Bone Marrow Failure Disorders
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Nervous System Diseases
Congenital Abnormalities