The U.S. Food and Drug Administration has approved Brineura (cerliponase alfa) to treat a specific form of Batten Disease, a condition that typically starts between 2 and 4 years of age.
The newly approved drug is for the CLN2 disease, a type of a set of diseases known as neuronal ceroid lipofuscinoses (NCLs), or collectively called Batten disease. CLN2 is a rare and inherited condition that affects the nervous system.
The condition is characterized by language delay, difficulty in coordinating movements (ataxia), and recurring seizures (epilepsy). Children who have this condition also suffer from eventual vision loss and muscle twitches.
The disease affects a person's essential motor skills, which include sitting and walking. Those who suffer from this condition typically need to use a wheelchair by late childhood. Those afflicted do not often survive past their teen years. The condition is relatively rare, occurring in about two to four in every 100,000 births in the United States.
First Approved Treatment For CLN2
Brineura is an enzyme replacement therapy. Cerliponase alfa, its active ingredient, is a laboratory-developed form of the human enzyme TPP1, which is deficient in people with CLN2 disease.
Emily de Los Reyes, from Nationwide Children's Hospital who is also principal investigator of the clinical studies, said that FDA's announcement offers patients of Batten disease and their families hope. The drug is the first approved treatment for the condition since it was first described more than a century ago.
"The FDA is committed to approving new and innovative therapies for patients with rare diseases, particularly where there are no approved treatment options," said Julie Beitz of FDA's Center for Drug Evaluation and Research. "Approving the first drug for the treatment of this form of Batten disease is an important advance for patients suffering with this condition."
A healthcare professional is required to administer the treatment, which needs to be made under sterile conditions to minimize risks of infection. It involves getting the enzyme replacement drug directly into the cerebrospinal fluid using a surgically implanted reservoir.
Side Effects Of The Treatment
In clinical studies involving 24 children between 3 and 8 years old with CLN2 disease, the most common side effects were fever, vomiting, heart problems, seizures, headache, and irritability.
The drug has not been evaluated in patients below the age of 3. As a condition for the approval, health regulators required the manufacturer to evaluate the drug in younger patients and to conduct a study over a period of not less than 10 years to identify the long-term health effects of the treatment.
"Treating children with CLN2 disease requires an extraordinary amount of collaboration between families, hospitals, advocates and physicians. We are grateful for the partnership of all those involved and look forward to continuing to work together to make Brineura accessible to children who may benefit," said Jean-Jacques Bienaimé, chairman and chief executive officer of BioMarin.
BioMarin said that the enzyme replacement therapy will cost $27,000 for each biweekly infusion, which is equivalent to $702,000 per year.