Summary: Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The mai...

Summary: TIRCON-reg aims to continue the provision of a global registry and natural history study for NBIA disorders harmonize and cover existing national and single site registries enable participation of countries and single sites that so far have no access to an NBIA registry join forces in order to recruit sufficient numbers of patients define the natural history of NBIA disorders define the most appro...

Summary: The purpose of this study is to learn more about Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders. Data is being collected on three types of NBIA disorders: Pantothenate Kinase-Associated Neurodegeneration (PKAN), PLA2G6-associated Neurodegeneration (PLAN) and Beta-propeller Protein-associated Neurodegeneration (BPAN). The study will (1) collect information about how symptoms and fi...