Researchers Discover Method for Slowing The Progression of PKAN

According to a story from ScienceBlog, the results of an international research study which was led by a team of scientists in Oakland, California and Munich, Germany, has led to the discovery of a possible method for slowing the progression of the rare disorder pantothenate kinase-associated neurodegeneration (PKAN). This approach may also have utility in other more widely known diseases as well, such as multiple sclerosis, Parkinson’s disease, and Alzheimer’s. 

About Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Pantothenate kinase-associated neurodegeneration (PKAN), which is also known as Hallervorden-Spatz syndrome, is a rare, progressive, degenerative disease that affects brain tissue. The symptoms appear alongside excessive iron accumulation in the brain. PKAN is linked to a mutation affecting the PANK2 gene. The symptoms of PKAN typically begin in childhood and can include retinitis pigmentosa, dystonia, toe walking, difficulty speaking and swallowing, seizures, weakness, limb stiffness, spasms, tremors, and dementia. Most patients lose their mobility within a few years and death by early adulthood is common; infections are the most frequent cause. Treatment options for PKAN are currently severely limited and there is a dire need for more effective options that can slow or halt the progression of the illness. It is estimated that prevalence of the disease is 1 to 3 of every 1,000,000 people. To learn more about PKAN, click here.

About The Study

This study was a trial that included a total of 89 patients and lasted for 18 months. The approach being tested involved the chelation, or removal, of the excess iron the builds up in the brain of patients with the disease. The results indicated that the procedure could slow progression of the illness, although the effect was only modest. The drug used in the study for chelation is called deferiprone. The treatment had a particular effect on symptoms of dystonia (repetitive, unnatural looking muscle contractions).

The impact of the drug seemed to be most effective in patients with an atypical, late-onset form of PKAN. When the placebo group was switched to deferiprone, progression slowed by an average of more than 60 percent. These results suggest that iron chelation could help slow progression in other neurodegenerative diseases as well; Alzheimer’s disease, multiple sclerosis, and Parkinson’s disease can also present with iron buildup in the brain.

Check out the original study in The Lancet Neurology here.


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