About Neuroacanthocytosis
Neuroacanthocytosis syndromes are a group of rare genetic disorders characterized by progressive neurodegeneration with movement disorder and acanthocytes (spiked red blood cells) on peripheral blood smear. The two main forms are chorea-acanthocytosis (VPS13A mutations, autosomal recessive) and McLeod syndrome (XK mutations, X-linked). Features include orofacial dyskinesia, self-mutilation, chorea, parkinsonism, cognitive decline, epilepsy, cardiomyopathy, and elevated serum creatine kinase.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Neuroacanthocytosis trials.
Peripheral blood smear confirming acanthocytes (>3% in context of clinical features) is a required diagnostic marker
Specify neuroacanthocytosis form — VPS13A (chorea-acanthocytosis) versus XK (McLeod syndrome) have distinct genetics and trial eligibility
For McLeod syndrome: Kell antigen blood group phenotyping is a critical safety marker — blood transfusion history must be documented
Creatine kinase, liver enzymes, and cardiac evaluation (ECG, echocardiogram) are required baseline safety and eligibility assessments
Patient Resources
Find recruiting Neuroacanthocytosis trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Neuroacanthocytosis. Updated daily.