Tk2 loss drives mitochondrial failure in frequent epilepsy seizures
Tk2 deficiency was closely linked to higher seizure frequency across multiple epilepsy types and brain regions.
Tk2 deficiency was closely linked to higher seizure frequency across multiple epilepsy types and brain regions.
A clinical trial in Spain aims to study the safety and efficacy of doxecitin and doxribtimine in adult patients with TK2d.
Researchers treated the first patient with a rare mitochondrial muscle disease in the same class as TK2d using the patient’s own stem cells.
Patients who received a newly-approved drug for TK2d had much lower rates of death than patients who were not.
Treatment with pyrimidine nucleos(t)ides was associated with a dramatic reduction in the risk of death compared with no treatment in TK2d.
The FDA has approved Kygevvi™ (doxecitine and doxribtimine) for children and adults with Tk2d, making it the first treatment for the disease.