NCT04656171

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.

Trial Health

30
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Timeline
Completed

Started Jan 2023

Geographic Reach
1 country

1 active site

Status
withdrawn

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 5, 2020

Completed
1 month until next milestone

First Posted

Study publicly available on registry

December 7, 2020

Completed
2.1 years until next milestone

Study Start

First participant enrolled

January 30, 2023

Completed
Same day until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 30, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 30, 2023

Completed
Last Updated

February 3, 2023

Status Verified

January 1, 2023

Enrollment Period

Same day

First QC Date

November 5, 2020

Last Update Submit

February 2, 2023

Conditions

Fanconi Anemia

Outcome Measures

Primary Outcomes (1)

  • measurement of fine motor praxia

    24 months

Study Arms (2)

Minor patients with Fanconi anemia

EXPERIMENTAL

MRI of hands and forearm, neuropsychological and neuromotor tests

Radiation: MRI of the hand and forearm,

Minor controls

ACTIVE COMPARATOR

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,

Interventions

MRI of the hand and forearm,RADIATION

MRI of the hand and forearm,

Minor controlsMinor patients with Fanconi anemia

Eligibility Criteria

Age5 Years - 21 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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)
  • Non-transplanted patients or patients at a distance from CSH transplant (\>3 years)

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Robert Drbré Hospital

Paris, 75019, France

Location

MeSH Terms

Conditions

Fanconi Anemia

Condition Hierarchy (Ancestors)

Anemia, Hypoplastic, CongenitalAnemia, AplasticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesCongenital Bone Marrow Failure SyndromesBone Marrow Failure DisordersBone Marrow DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Sandrine Passemard, MD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR
0

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
OTHER
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 5, 2020

First Posted

December 7, 2020

Study Start

January 30, 2023

Primary Completion

January 30, 2023

Study Completion

January 30, 2023

Last Updated

February 3, 2023

Record last verified: 2023-01

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)