Alexander Disease

Alexander Disease Latest News

Ionis Pharmaceuticals recently said it would price its newly approved therapy to treat Alexander disease at $285,000 per dose, a day after the U.S. FDA cleared the injectable ​drug, making it the first approved treatment for the genetic ​disorder in adults and children.

About Alexander Disease

• It is a rare genetic disorder that progressively damages the nervous system. 
• It is a type of leukodystrophy, a group of conditions that affect the white matter of the brain. 
• These diseases damage the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord and speeds transmission of messages between cells. 
• In Alexander disease, the myelin insulating the nerve fibers in the brain deteriorates over time, and abnormal clumps of protein, called Rosenthal fibers, accumulate in the brain. 
• This causes the nervous system to stop working properly. 

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Alexander Disease Cause

• Most cases of Alexander disease are caused by a mutation in the GFAP gene, which directs the body’s production of a glial fibrillary acidic protein (GFAP). 
• At normal levels, GFAP supports the brain’s white matter (the myelin sheath). 
• The mutation of this gene in Alexander disease causes this protein to accumulate. 
• Instead of helping maintain the brain’s white matter, the extra GFAP does the opposite, killing other cells and damaging the myelin.
• In most cases, the gene mutation associated with Alexander disease is not inherited from a parent. 
• It is simply a random mutation and is new in the person who develops the syndrome.
• In some cases, Alexander disease is inherited from a similarly affected parent. 

Alexander Disease Symptoms

• Most cases of Alexander disease begin before age 2 and are described as the infantile form. 
  • Signs and symptoms of the infantile form typically include an enlarged brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. 
• Less frequently, onset occurs later in childhood (the juvenile form) or in adulthood. 
  • Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia). 
• Rarely, a neonatal form of Alexander disease occurs within the first month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in the brain (hydrocephalus), and seizures. 

Alexander Disease Treatment

• There is no complete cure for Alexander disease, but the U.S. FDA recently approved Zanvastro (zilganersen), which is the first disease-modifying therapy that directly targets the underlying protein buildup driving the condition.
• The disease is often fatal.

News: REUT