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Microcephaly, Fanconi Anemia and Praxial Disorders

NCT04656171 · Status: WITHDRAWN · Phase: NA · Type: INTERVENTIONAL

Last updated 2023-02-03

No results posted yet for this study

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.

Conditions

  • Fanconi Anemia

Interventions

RADIATION

MRI of the hand and forearm,

MRI of the hand and forearm,

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Sandrine Passemard, MD · Assistance Publique - Hôpitaux de Paris

Study Design

Allocation
NON_RANDOMIZED
Purpose
OTHER
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
5 Years
Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-01-30
Primary Completion
2023-01-30
Completion
2023-01-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04656171 on ClinicalTrials.gov