Experimental Treatment for Maple Syrup Urine Disease Gets Orphan Drug Designation

According to a story from Market Screener, the international pharmaceutical company Recordati recently announced that the European Commission (EC) has recently presented the company’s experimental product candidate REC 0545 with Orphan Drug designation. This designation was granted for the treatment of the rare genetic disorder maple syrup urine disease. This marks the first time that an investigational compound has received the designation for maple syrup urine disease, at least in the EU.

About Maple Syrup Urine Disease

Maple syrup urine disease is a type of genetic, metabolic disorder which is characterized by a buildup of amino acids. The disease’s name comes from the smell of an affected person’s urine, which often is one of the first notable signs of the disorder. There are a number of genetic mutations that can cause the illness. These typically affect DLT, DBT, BCKDHA, or BCKDHB genes. There are late onset and early onset forms of maple syrup urine disease. The early onset form can be lethal in a matter of months if left untreated. Symptoms include brain damage, a maple syrup like smell of urine and ear wax during metabolic crises, hallucinations, weight loss, coma, pancreatitis, spasms, muscle weakness, ataxia, seizures, anorexia, vomiting, diarrhea, and anemia. Treatment involves strict dietary control to reduce amino acid intake. A liver transplant can relieve most symptoms. To learn more about maple syrup urine disease, click here.

Orphan Drug Designation in the EU

In the EU, Orphan Drug designation is reserved for diseases that are considered rare, which is defined as a disease that affects five in every 10,000 people. In addition, the experimental drug must display potential advantages over currently available treatments in its effectiveness or safety. This designation provides substantial benefits for the recipient company, including a ten year period of market exclusivity if the drug successfully reaches approval.

While exciting news for the company, the announcement should also be celebrated by maple syrup urine disease patients as well. Current treatment options for this disorder are limited in number and effectiveness and can also be medically risky for the patient. There is a dire need for new therapies that address the underlying disease mechanism and improve the quality of life for patients.


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