Conditions

Neurodegeneration With Brain Iron Accumulation (NBIA)

Outcome Measures

Primary Outcomes (2)

Sequencing tests of a panel of 22 genes using a dedicated custom capture and a medium throughput sequencing protocol.
Records of coverage (% of designed regions)
through study completion, an average of 2 years
Sequencing tests of a panel of 22 genes using a dedicated custom capture and a medium throughput sequencing protocol.
Records of depth of sequencing (reads number)
through study completion, an average of 4 years

Secondary Outcomes (2)

Identification of the dominant form using biochemical analysis in patient's fibroblasts
through study completion, an average of 2 years
Identification of the dominant form using biochemical analysis in patient's fibroblasts
through study completion, an average of 2 years

Study Arms (2)

Patients with NBIA who remain without molecular diagnosis

A group of 40 patients with NBIA, who remain without molecular diagnosis

Genetic: Sequencing tests

Patients with NBIA with identified mutations in genes

A group of patients with 2 frequent forms of NBIA, carrying mutations in genes (already studied in the CHU molecular diagnostic laboratory)

Genetic: Establishment of mitochondrial markers

Interventions

Establishment of mitochondrial markersGenetic

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.

Patients with NBIA with identified mutations in genes

Sequencing testsGenetic

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.

Eligibility Criteria

Sexall

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Patients with NBIA

You may qualify if:

NBIA Patients diagnosed with a pathogenic variation or any variation that could impact gene function (class 4 or 5 according to ACMG criteria) in the following genes: C19ORF12, PANK2, PLA2G6, DCAF17, FA2H, WDR45, FTL, CP and ATP13A2 and whose fibroblasts have been collected at Bordeaux University Hospital for functional analysis during the diagnosis procedure

Sponsors & Collaborators

University Hospital, Bordeaux
Otherlead
Institut National de la Santé Et de la Recherche Médicale, France
Governmentcollaborator

Study Sites (1)

Centre Hospitalier Universitaire de Bordeaux

Talence, France

Related Publications (1)

Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes. Mov Disord. 2023 Nov;38(11):2103-2115. doi: 10.1002/mds.29576. Epub 2023 Aug 21.
PMID: 37605305DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

cutaneous biopsy and blood samples

MeSH Terms

Conditions

Pantothenate Kinase-Associated Neurodegeneration

Condition Hierarchy (Ancestors)

Basal Ganglia DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesNeuroaxonal DystrophiesMovement DisordersHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

Patricia FERGELOT MAURIN
University Hospital, Bordeaux
PRINCIPAL INVESTIGATOR

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

Primary Completion

Study Completion

First Submitted

First Posted

Conditions

Outcome Measures

Primary Outcomes (2)

Secondary Outcomes (2)

Study Arms (2)

Patients with NBIA who remain without molecular diagnosis

Patients with NBIA with identified mutations in genes

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

Primary Completion

Study Completion

First Submitted

First Posted

Conditions

Outcome Measures

Primary Outcomes (2)

Secondary Outcomes (2)

Study Arms (2)

Patients with NBIA who remain without molecular diagnosis

Patients with NBIA with identified mutations in genes

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Publications (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations