Ariana Boswell

All articles by Ariana Boswell

• Doxecitine and doxribtimine safe in patients with renal impairment

  A study found that levels of doxecitine and doxribtimine were higher in those with renal impairment after dosing, but this was not tied to safety concerns.

• Imaging study identifies seizure patterns in mitochondrial disease

  A recent study evaluated EEG and MRI findings for signs of status epilepticus, a complication of mitochondrial diseases such as TK2d.

• How to ‘Light Up for Rare’ on Rare Disease Day

  Landmarks worldwide will light up on Rare Disease Day.

• What is encephalopathy?

  In infants with TK2d, encephalopathy can mean seizures, cognitive difficulties and impaired hearing.

• Case report: Ketogenic diet beneficial in infant with mitochondrial disease

  A preterm infant diagnosed with MTDPS13, a mitochondrial disease similar to TK2d, was found to tolerate a ketogenic diet well.

• Mitochondrial DNA release may trigger inflammation in TK2d

  In patients with primary mitochondrial diseases such as TK2d, mitochondrial DNA may be responsible for activating immune responses.

• Case series highlights diagnostic challenges of mitochondrial diseases

  A recent study describes four young patients with mitochondrial DNA maintenance defects who did not receive diagnoses until young adulthood.

• What are mitochondria?

  A single cell can contain hundreds or even thousands of mitochondria.

• Clinical trial in Spain to evaluate doxecitin and doxribtimine in TK2d

  A clinical trial in Spain aims to study the safety and efficacy of doxecitin and doxribtimine in adult patients with TK2d.

• FDA approves first and only drug to treat TK2d

  The FDA has approved Kygevvi™ (doxecitine and doxribtimine) for children and adults with Tk2d, making it the first treatment for the disease.