The Research Centre for Medical Genetics has joined the international register of patients with neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA) unites a group of rare neurological syndromes with a common clinical feature shown on MRI as iron accumulation in the brain basal ganglia. NBIA is a genetically heterogeneous condition. To date, pathogenic nucleotide sequence variants for this condition have been found in more than 10 genes.

The overall incidence of all NBIA forms is estimated to be 1-2 per 1'000'000 newborns. Such a small number of patients makes it difficult to study the disease process and develop therapeutic approaches.

To address this problem, the Treat Iron Related Childhood Onset Neurodegeneration (TIRCON) project, funded by the European Union, was established in 2011. The TIRCON project has evolved into an international registry of patients with NBIA since 2015, which currently includes research and clinical centers from 12 countries including the USA, Canada, Germany, Holland, UK, Spain, Italy and others.

International Registry of NBIA patients carries out shared scientific research on various clinical subtypes of the disease, and is involved in organization of clinical trials of therapeutic drugs and development of gene therapy approaches.

Petr Andreevich Sparber, a physician geneticist, the research assistant of the Functional Genomics laboratory, supervises the international register on behalf of FSBI RCMG.

https://tircon.eu/nbia-network/nbia-registry-clinical-centres