Rare Disease Brief – Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Rare Disease Brief – Pantothenate Kinase-Associated Neurodegeneration (PKAN)

The team here at My City Med is proud to bring you our very first Rare Disease Brief. There are 7,000 known rare diseases that affect 30 million Americans. At My City Med, our goal is to build a roadmap for every rare and chronic diagnosis. That means pulling together the best resources available for patients and caregivers visiting our site.

Today we’re highlighting Pantothenate Kinase-Associated Neurodegeneration (PKAN), a form of Neurodegeneration. Neurodegeneration with Brain Iron Accumulation (NBIA) develops when iron accumulates in the brain resulting in nerve damage and other debilitating symptoms. PKAN is the most common form of NBIA and 30 to 50% of MBIA patients are diagnosed with PKAN.

Also referred to as:

  • Hallervorden-Spatz Syndrome
  • HARP
  • HSS
  • NBIA1
  • neurodegeneration with brain iron accumulation type 1
  • Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus
Affected Population:

PKAN affects one in 1 million people and is caused by genetic defects.

Symptoms:

Symptoms include dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs

Treatment:

Iron chelation, Baclofen, Artane

Diagnostics:

MRI scans may reveal the eye of the tiger sign, an abnormal low T2 signal (due to abnormal accumulation of iron) in the globus pallidus.

Cure:

PKAN is progressive. There is no proven cure at this time.

A Cure on the Horizon?

While many rare disease populations only dream of clinical trials and treatment options, there are efforts underway offering new options for PKAN patients.

The FORT Study (http://pkanfortstudy.com)

Status: Currently recruiting patients

Locations: Emory University in Decatur, Georgia; Massachusetts General Hospital in Boston, Massachusetts; Children’s Hospital of Pittsburgh of UPMC

Compensation: None. The study drug in all study related care will be provided free of charge.

 

NBIAready: Online Collection of Natural History Patient-reported Outcome Measures

Status: Currently recruiting patients

Locations: Oregon

Compensation: Unknown

 

Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN) (http://nbiacure.org/spoonbill-foundation/)

Status: Currently recruiting patients, funding pending

Locations: Oregon

Compensation: None. The study drug in all study related care will be provided free of charge.

 

Non-Profit Support

 

 

Are you looking to connect with PKAN or NBIA patients? Join our private PKAN community here and locate additional resources to learn more about NBIA disorders here. Interested in a PKAN awareness event or fundraiser? Search here.

 

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