Neurological
Neuroacanthocytosis
Also known as Chorea-acanthocytosis, McLeod syndrome, VPS13A deficiency, XK protein deficiency
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-aca
0
studies recruiting now
as of 7 Sept 2026
1
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No recruiting trial found right now.
1 study is registered for Neuroacanthocytosis, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
Keep watching
Get an email when a new Neuroacanthocytosis study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Neuroacanthocytosis Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
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
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Neuroacanthocytosis. Not eligibility rules; those are set by each study.
- 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
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).