An interventional study of MRI of the hand and forearm, in Fanconi Anemia, sponsored by Assistance Publique - Hôpitaux de Paris. Withdrawn at 1 site in France. Open to participants aged 5 Years to 21 Years. Per ClinicalTrials.gov, last updated 2023-02-03.
Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Other
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.
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 :
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 :
Patients with Fanconi Anemia defined according to two of the following diagnostic criteria already included in the MicroFanc study:
Exclusion Criteria:
Subjects for whom both parents have not agreed to participate in the research, or for whom MRI is contraindicated.
MRI of hands and forearm, neuropsychological and neuromotor tests
Radiation: MRI of the hand and forearm,
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,
measurement of fine motor praxia
Time frame: 24 months
Plan to share: No
No publications or documents are linked to this record.
This study is withdrawn, as verified in Jan 2023. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Assistance Publique - Hôpitaux de Paris