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.
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
Alexander Disease FAQs
Q1: What is Alexander disease?
Ans: Alexander disease is a rare genetic disorder that progressively damages the nervous system.
Q2: What type of disorder is Alexander disease?
Ans: It is a type of leukodystrophy, a group of conditions that affect the white matter of the brain.
Q3: What part of the nervous system is primarily affected by Alexander disease?
Ans: It primarily affects the white matter of the brain and progressively damages the nervous system.
Q4: Which gene is most commonly associated with Alexander disease?
Ans: The GFAP gene.
Q5: Is Alexander disease usually inherited from a parent?
Ans: No. In most cases, the associated GFAP mutation is a new, random mutation that develops in the affected person.
