About Neurodegeneration with Brain Iron Accumulation
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare genetic disorders characterized by progressive iron deposition in the basal ganglia. PKAN (PANK2 mutations) is the most common subtype, causing dystonia, parkinsonism, and retinal degeneration with the pathognomonic 'eye of the tiger' sign on brain MRI. Other subtypes include BPAN (WDR45), MPAN (C19orf12), and PLAN (PLA2G6), each with distinct clinical features and genetic causes.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Neurodegeneration with Brain Iron Accumulation trials.
Specify NBIA subtype (PKAN, BPAN, MPAN, PLAN) — trials are subtype-specific due to distinct genetics and pathophysiology
Brain MRI T2/T2* or susceptibility-weighted imaging (SWI) demonstrating basal ganglia iron deposition is required for enrollment
Iron chelation therapy (deferiprone) trials are the most common interventional approach for PKAN — prior chelation history must be disclosed
Pantothenate kinase (PANK2) enzyme activity and genotype classification (classic vs. atypical) affect PKAN trial eligibility
Patient Resources
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