New Alnylam program focuses on need to know family health history

Company hit the road in US in drive to improve understanding of hATTR risk

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by Mary Chapman |

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Alnylam Pharmaceuticals has taken to the road, literally, in a campaign aimed at driving home the importance of people knowing their family health history so as to better understand their risk of developing hereditary ATTR (hATTR) amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP).

Called the Family Health History Road Trip, the pharmaceutical company’s newly launched U.S. program was “inspired by the traditional family road trip,” Alnylam said in a press release.

The approved FAP therapies Onpattro (patisiran) and Amvuttra (vutrisiran) are marketed by the company.

The campaign follows Alnylam’s partner Bernice Bennett, a genealogist and health education specialist, who drove to Illinois, Indiana, and Massachusetts to meet with three people living with hATTR amyloidosis and their family members, with a goal of learning about the disease’s impact on them and across generations.

“When we speak about family history, we often focus on the stories about what country we came from, where family integrated to, or what types of jobs or professions they held; what we don’t tend to focus on is the health history of those who have walked before us,” said Bennett, who is an author and speaker who focuses on community health.

“Family history is considered one of the most important risk factors for health problems. Knowing your family’s health history empowers you with important information to share with your doctor when seeking a diagnosis or determining your risk for developing an inherited disease like hATTR amyloidosis,” Bennett added.

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Tiffany Patrick, the company’s vice president, patient advocacy and engagement, said the Family History Road Trip campaign “underscores Alnylam’s commitment to supporting improved health outcomes for the hATTR amyloidosis community.”

“Alnylam has been learning from the hATTR amyloidosis community for nearly two decades, and during that time, I’ve witnessed firsthand the devastating impact a delayed diagnosis can have on an individual’s quality of life and on their entire family,” Patrick said.

All types of hATTR amyloidosis, also known as hereditary transthyretin amyloidosis, are caused by mutations in the TTR gene. These genetic changes result in toxic clumping of the transthyretin protein, which can ultimately damage the body’s organs and tissues.

When the condition causes mainly neuropathy, or nerve damage, it is called familial amyloid polyneuropathy, or FAP for short. When damage occurs mainly to the heart, it is called hereditary transthyretin amyloid cardiomyopathy.

Confirmation of an hATTR amyloidosis diagnosis is done through genetic testing and tissue biopsy. A genetic test can determine whether a person carries one of the more than 120 known disease-causing variants in at least one copy of the TTR gene.

Once a gene variant is discovered, family members can discuss their own risk for the disorder with their doctor. Having a disease-causing TTR mutation means that each biological child has a 50% chance of inheriting that genetic variant, and could subsequently develop the disease.

While anyone of any ethnicity can develop hATTR amyloidosis, it is more common among people of African, Brazilian, French, Irish, Japanese, Portuguese, and Swedish lineage, among others.

However, symptoms are frequently nonspecific and can vary broadly among patients, sometimes rendering diagnosis difficult — particularly for those lacking a family health history. Common hATTR symptoms can include sensory and motor problems, heart-related issues, and gastrointestinal problems, which can mimic symptoms of other conditions.

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Patient sharing family health history led to accurate diagnosis

It can take three to six years after symptom onset for an accurate diagnosis, according to Alnylam. By that time, the company notes, disease is likely to have significantly advanced without treatment.

Also during that time, the patients’ relatives are unaware of an inherited disease in the family, which can hamper the timely diagnosis and treatment or family members and can affect family planning. Misdiagnoses also are common.

During her road trip, Bennett heard personal accounts of the effects of the disease’s symptoms — and about patients’ journies to getting a diagnosis. She also talked with patients about how families discussed the genetic condition with each other.

Once I mentioned my uncle’s history of amyloid neuropathy to my doctor, I was immediately offered a genetic test and finally received a diagnosis.

Program participant Christine said it took more than seven years and appointments with nine doctors for her to receive an accurate diagnosis — despite her uncle having neuropathy.

“Once I mentioned my uncle’s history of amyloid neuropathy to my doctor, I was immediately offered a genetic test and finally received a diagnosis,” she said.

“My symptoms were so different from my uncle’s that I never thought to discuss his health history with my doctor when I started my search for answers,” Christine said. “If I had, I could have potentially been diagnosed and started on a disease management plan much earlier.”

Bennett also interviewed hATTR amyloidosis expert Saurabh Malhotra, MD, in Chicago, about the disease. The program features a video from each conversation with patients across the three states.