Alnylam Act Expanded to Offer Access for Patients with AHPs


To kick off the new year, Alnylam Pharmaceuticals, Inc., a company dedicated to the development of RNAi therapeutics, announced the expansion of its Alnylam Act.

To kick off the new year, Alnylam Pharmaceuticals, Inc., a company dedicated to the development of RNAi therapeutics, announced the expansion of its Alnylam Act.

The program, first introduced to help people make better informed decisions about their health, will now 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 (AHPs).

AHPs are a family of ultra-rare, often misdiagnosed genetic diseases in which the enzyme deficiency occurs in the liver. The group encompasses four diseases, listed from most common to most rare: acute intermittent porphyria (AIP), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase.

At present, when an attack is confirmed, urgent treatment with an injection of human hemin and/or perfusion of carbohydrates is required. Management of the disorder includes avoiding causal factors to prevent attacks and protect the skin from the light in cases of cutaneous manifestations. In November, Alnylam initiated the company’s ENVISION Phase 3 clinical study of givosiran in AHPs.

“The Alnylam Act will be giving renewed life to many people in this country and Canada who need DNA to prove their disease. I think it will be life-changing for every one of these people identified to have porphyria,” said Desiree Lyon Howe, Executive Director of the American Porphyria Foundation, in an exclusive interview with Rare Disease Report.

“I’m so aware of the diagnostic walls that go up, and I think the Alnylam Act will totally tear those walls down. This is the opening of a new life for patients, and I feel that we will identify people who have never been identified, and then we can help them get treatment, because there is treatment available now.”

One concern for patients eligible to participate is the potential for Alnylam to access personal information. Genetic testing available through Alnylam Act is provided by Invitae, an independent, third-party genetic testing company, and they have agreed to never share patient-identifiable information with Alnylam.

Nichol Kirby of Indianapolis, Indiana was diagnosed in the Fall of 2015 after experiencing extreme health issues because of porphyria attacks, and knows the potential quality of life improvements that the Alnylam Act can bring: “For months, I experienced a number of symptoms that never went away. I would go to the emergency room and was sent home. (Doctors) thought that I was drug seeking.”

“Just knowing that there are therapies out there, and knowing that now my family members can go out and get the proper testing without breaking the bank, and knowing that there might be a set of criteria when people present with the symptoms that I presented with and not have to go through years of battling to find a diagnosis is the most amazing thing.”

The genetic testing must be ordered by a healthcare professional and is available in the United States and Canada.

For more on the Alnylam Act and other breakthroughs in the rare disease community, follow Rare Disease Report on Facebook and Twitter.

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