RecruitingNCT06596746
Neurological
Neurodegeneration with Brain Iron Accumulation
Also known as NBIA, PKAN (pantothenate kinase-associated), BPAN, MPAN
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,
ORPHA:385 ↗Gene PANK2Gene PLA2G6Gene FA2HGene C19orf12Gene WDR45Prevalence 1-9 per 1,000,000 (Orphanet)Onset Childhood, Adolescent, AdultAutosomal recessive or X-linked genetic (varies by subtype)
2
studies recruiting now
as of 7 Sept 2026
14
studies registered in total
as of 7 Sept 2026
8
countries with a recruiting site
as of 7 Sept 2026
19 Sept 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT05522374
TIRCON International NBIA Registry
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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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
Progressive dystoniaParkinsonismRetinal degenerationEye of the tiger sign on MRISpasticityNeuropsychiatric symptomsCerebellar ataxia
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Neurodegeneration with Brain Iron Accumulation. Not eligibility rules; those are set by each study.
- 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
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).