Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)

• ClinicalTrials.gov Identifier: NCT04656171
• Recruitment Status: Withdrawn
• First Posted: December 7, 2020
• Last Update Posted: February 3, 2023
• Sponsor: Assistance Publique - Hôpitaux de Paris
• Information provided by (Responsible Party): Assistance Publique - Hôpitaux de Paris

Study Description

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

Study Design

• 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

Arms and Interventions

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,

Outcome Measures

Primary Outcome Measures :

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

Eligibility Criteria

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

Criteria

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.

Contacts and Locations

Locations

France

Robert Drbré Hospital

Paris, France, 75019

Sponsors and Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

• Principal Investigator: Sandrine Passemard, MD; Assistance Publique - Hôpitaux de Paris

More Information

• 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
• Last Update Posted: February 3, 2023
• Last Verified: January 2023

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Microcephaly; Fanconi Syndrome; Anemia; 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