Estimated to affect only up to 5,000 people worldwide, pantothenate kinase-associated neurodegeneration, or PKAN, is a rare and life-threatening genetic disorder that typically begins in early childhood.1,2 There are no approved treatment options for this progressively debilitating disorder and current therapeutic strategies are limited to symptom management.2,3
PKAN is the most common condition among a group of neurodegenerative disorders that are associated with abnormal iron accumulation on the brain, known as NBIA. In NBIA disorders, iron accumulates in the basal ganglia, the part of the brain that helps to regulate movement. As a result, people suffering from PKAN may experience sustained muscle contraction that leads to abnormal posture (dystonia), rigidity, problems swallowing (dysphagia), twisting and writhing, and visual impairment.3
PKAN patients may lose their ability to walk, speak, swallow, and see, all of which may bring about significant challenges to daily living.3
PKAN is suspected when a characteristic pattern is seen on a brain MRI. PKAN patients usually have iron accumulation that causes a radiographic pattern commonly referred to as the "eye of the tiger." This finding, along with the presence of neurologic symptoms, is the basis for a PKAN diagnosis.3
PKAN is caused by a mutation in the PANK2 gene, which encodes a critical protein that metabolizes vitamin B5.4 The disruption of this metabolic pathway ultimately leads to decreased levels of coenzyme A (CoA), which plays an important role in many cellular functions.3,5
We are developing a novel treatment designed to restore the metabolic product of the missing or dysfunctional enzyme. The molecule could be the first approved replacement therapy targeting the underlying cause of PKAN. Learn more about this investigational therapy.
The following organizations may be a resource for information and support for people with PKAN and those around them:
In its drive to find a cure for NBIA, this organization's mission is to provide support to families, educate the public and accelerate research with collaborators from around the world. Among its many goals, the NBIA aims to provide a supportive environment for people affected by these disorders, while increasing recognition of the disorders, promoting early diagnosis and access to optimal care. In addition, the organization is committed to driving research to ultimately find a cure for NBIA disorders.
Global Genes is a non-profit patient advocacy organization working to eliminate the challenges of rare disease by building awareness, educating the global community, and providing critical connections and resources that equip advocates to become activists for their disease. Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. Numerous tools, resources and educational events can be found on the Global Genes website www.globalgenes.org.
The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. In the US, NORD is also the official sponsor of Rare Disease Day, an annual global observance that raises awareness of rare diseases and elevates them into the public consciousness as an important health issue that cannot be ignored.
EURORDIS is a non-governmental patient-driven alliance of more than 700 rare disease patient organisations in more than 60 countries. EURORDIS strives to build a strong pan-European community of patient organisations and people living with a rare disease, to be their voice at the European level, and - directly or indirectly - to fight against the impact of rare diseases on their lives. EURORDIS leads global efforts for Rare Disease Day and the online social platform for people living with or affected by a rare diseases RareConnect. EURORDIS represents the voice of an estimated 30 million people living with a rare disease in Europe. Follow @eurordis or see the EURORDIS Facebook page. For more information visit: www.eurordis.org.
Data on file. San Diego, CA: Retrophin, Inc.; July 2016.
- Gregory, et al. GeneReviews. 2002.
- NORD Report on PKAN. Pantothenate Kinase-Associated Neurodegeneration. Available at: http://rarediseases.org/rare-diseases/pantothenate-kinase-associated-neurodegeneration/. Last accessed: July 28, 2016.
- Setchell, et al. Aliment Pharmacol Ther 2005; 21: 709–721.
- DiMarco, et al. Development of a Human Neuroblastoma Model of PKAN. Poster presented at ACMG Annual Clinical Genetics Meeting; 8-12 March 2016, Tampa, FL.