Aceruloplasminemia Clinical Trials and Treatments

Aceruloplasminemia is a rare autosomal recessive disorder of iron metabolism caused by mutations in the CP gene (chromosome 3) encoding ceruloplasmin, a copper-carrying ferroxidase essential for iron metabolism and ferroxidase-mediated oxidation of iron from Fe2+ to Fe3+. Without ceruloplasmin, iron accumulates excessively in multiple organs particularly the brain, liver, pancreas, and retina, causing progressive neuronal and hepatic damage. Patients develop progressive parkinsonism with dystonia, rigidity, tremor, and bradykinesia typically beginning in young adulthood (typically 20s-40s), mimicking Parkinson's disease but with atypical features and earlier onset.

The most common symptoms of Aceruloplasminemia include Progressive parkinsonism and movement disorder, Cognitive decline and dementia, Retinal degeneration causing vision loss, Liver disease and cirrhosis, Diabetes mellitus from pancreatic iron accumulation, among others. Fewer than 100 cases reported; estimated 1 in 1,000,000. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Aceruloplasminemia from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Iron chelation therapy targeting iron accumulation offers the potential to slow or prevent disease progression if initiated early before irreversible neuronal damage develops. Deferasirox and other iron chelators are used off-label, and published case reports show variable benefit depending on how early treatment starts relative to symptom onset.

Yes. As of September 2026, Trial Friend lists 2 FDA-approved drugs used to treat Aceruloplasminemia: Exjade (deferasirox), first approved in 2005; and Ferriprox (deferiprone), first approved in 2011.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Aceruloplasminemia is caused by variants in the CP gene. Caused by biallelic variants in CP (ceruloplasmin); absent serum ceruloplasmin with iron overload in brain, liver, and pancreas is the hallmark.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. Fewer than 100 cases reported; estimated 1 in 1,000,000. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Aceruloplasminemia looks at the CP gene. Caused by biallelic variants in CP (ceruloplasmin); absent serum ceruloplasmin with iron overload in brain, liver, and pancreas is the hallmark.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Aceruloplasminemia clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Aceruloplasminemia clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.