According to a story from the AKU Society, the European Medicines Agency (EMA) has recently announced a positive opinion on extending the label indication for nitisinone (marketed as Orfadin®). The agency’s opinion on the drug is in regards to its use as a treatment for alkaptonuria, a rare disease. Currently, the drug is approved as a treatment for hereditary tyrosinemia type 1.
About Alkaptonuria
Alkaptonuria is an inherited genetic disorder in which the body cannot process tyrosine and phenylalanine, which are amino acids. Early in life, affected individuals may not display any symptoms, but their urine may be an unusually dark color, typically brown or black. As the patient ages, they eventually begin to experience pain in their weight bearing joints, particularly along the spine, knees, and hips. Other symptoms include weakening of bones, heart valve problems, hearing loss, and a greater likelihood of kidney stones, gall stones, and similar deposits. Symptoms first appear at age 30, and many people will need joint replacement surgery in their fifth decade. The disease does not appear to affect life expectancy, but it can cause debilitating pain and can drastically affect quality of life. While pain and other symptoms can be treated, there is no treatment that can reverse or halt the process that causes the condition. To learn more about alkaptonuria, click here.
Encouraging Findings
The decision to recommend this drug for alkaptonuria follows findings in a clinical trial which demonstrated that nitisinone was capable of halting the progression of disease symptoms. In addition, the treatment was able to reduce homogentisic acid (HGA), which is implicated in causing damage in this disease, by 99.7 percent. The drug also appeared to be generally safe for use by patients.
The positive opinion is not the same as market approval, but it is a strong sign that it is likely to receive approval, which falls to a final decision from the European Commission. A decision on marketing approval for nitisinone for alkaptonuria is likely to happen in the next few months.
If approved, this therapy would be the first ever disease modifying treatment made available for this disease. Click here to read the official announcement from the EMA.
