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Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants.

NCT05615571 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 70

Last updated 2022-11-14

No results posted yet for this study

Summary

Neurodegeneration with brain iron accumulation (NBIA) represent a group of rare neurodevelopmental diseases, genetically as well as phenotypically heterogeneous.

The diagnosis is based on brain MRI. It is also based on genetic testing. However overlaps exist between the different clinical presentations and the molecular diagnosis may be misinterpreted.

Two main purposes must be addressed to get a better molecular diagnosis: on one hand reaching enough exhaustivity which may be performed with a larger gene panel and next generation sequencing; on the other hand, it is now necessary to validate or infirm the deleterious consequences of variants with the help of functional studies.

Conditions

  • Neurodegeneration With Brain Iron Accumulation (NBIA)

Interventions

GENETIC

Establishment of mitochondrial markers

Establishment of mitochondrial markers from fibroblasts in culture, obtained from a skin biopsy. Establishment of yeast models to show biochemical mitochondrial alterations: introduction of missense variants in the pantothenate kinase yeast gene Cab1 whose deletion is lethal, followed by growth of mutant strains on fermentation and respiratory media.

GENETIC

Sequencing tests

sequencing tests of a panel of 22 genes (9 already known and 13 new genes) using a dedicated custom capture and a medium throughput sequencing protocol.

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Patricia FERGELOT MAURIN · University Hospital, Bordeaux

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-01-04
Primary Completion
2020-11-30
Completion
2020-11-30

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 NCT05615571 on ClinicalTrials.gov