Rare Daily Staff

Alnylam Pharmaceuticals said it has expanded the Alnylam Act program to include no-charge, third-party genetic testing and counseling for individuals who may carry a gene mutation known to be associated with acute hepatic porphyrias, a family of ultra-rare, often misdiagnosed genetic diseases.

AHPs are characterized by acute, potentially life-threatening abdominal attacks and chronic debilitating multi-system symptoms that severely impact patients’ quality of life. Patients afflicted with this set of diseases are frequently misdiagnosed, and achieving an accurate diagnosis is often delayed by over a decade in many patients. Administration of IV hemin is currently the only available treatment option and is approved for on-demand treatment of acute attacks but does not prevent attacks, control chronic manifestations, or decrease the burden of disease.

“Alnylam Act is an important initiative that we hope will help to improve the diagnosis of people with the acute porphyrias,” said Desiree Lyon Howe, executive director of the American Porphyria Foundation. “For individuals who have symptoms consistent with acute hepatic porphyrias—including severe abdominal pain, nausea and weakness—the genetic testing and counseling offered through Alnylam Act may help lead to an accurate diagnosis.”

A similar program in hATTR amyloidosis has been available to enrolled physicians for approximately two years under the Alnylam Act umbrella.

Genetic testing available through Alnylam Act is provided by Invitae, an independent, third-party genetic testing company. The genetic testing must be ordered by a healthcare professional and is available in the United States and Canada. Genetic counseling is provided by InformedDNA, an independent, third-party genetic counseling provider and is available in the U.S. only.

Alnylam is developing Givosiran, an experimental, subcutaneously administered RNAi therapeutic for the treatment of acute hepatic porphyrias (AHPs). Givosiran has been granted Breakthrough Therapy designation by the U.S. Food and Drug Administration and Priority Medicine designation by the European Medicines Agency. In has also been granted orphan drug designations in both the U.S. and the E.U. for the treatment of AHPs.

Posted January 23, 2018
Photo: Desiree Lyon Howe, executive director of the American Porphyria Foundation

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