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Six members of one family died from a rare condition. UCSD is first in the nation to offer others hope

UC San Diego Health's Jacobs Medical Center in La Jolla
UC San Diego Health is treating patients who have hereditary transthyretin amyloidosis, a rare condition that causes the overproduction and buildup of protein in vital organs, which can eventually cause them to stop functioning. Pictured is UCSD’s Jacobs Medical Center in La Jolla.
(Eduardo Contreras / The San Diego Union-Tribune)

Numbness and tingling in her feet, heart palpitations, dizzy spells and wrist pain that felt like carpal tunnel syndrome pushed Nancy Kim to confirm that she has the same rare genetic condition that has devastated her family, forcing her father to receive a heart transplant and killing six of her family members.

The condition, called hereditary transthyretin amyloidosis, causes the overproduction and buildup of protein in vital organs, eventually causing them to stop functioning. Only 50,000 people nationwide are estimated to suffer from amyloidosis, and there has been little hope of a treatment, let alone a cure.

But Kim and others recently have been surprised to see what appears to be a game-changer with the help of UC San Diego Health.

Nancy Kim, pictured with her father, Il Hyung Kim
Nancy Kim is pictured with her father, Il Hyung Kim. Amyloidosis has killed six of their family members and forced him to receive a heart transplant.
(Courtesy of Nancy Kim)

In July, the San Diego mother and just-graduated nursing student was among the first in the nation to receive a shot of Amvuttra, a recently approved drug that mutes the inherited genetic code that causes too much amyloid protein production.

Clinical trials have shown that significantly less protein correlates with fewer symptoms.

What feels truly amazing, Kim says, is that the new drug is the second therapy with such effects to be made available to her since the Cardiac Amyloidosis Program at UC San Diego Health diagnosed her in 2018.

Onpattro, the first drug that became available and also was made by Alnylam Pharmaceuticals Inc., has significantly reduced but not eliminated her symptoms since she started taking it three years ago. Now Amvuttra seems to be able to do the same thing but with a large improvement in quality of life.

Onpattro required four-hour intravenous infusions, but Amvuttra is delivered in shot form and lasts three months between doses rather than three weeks.

Those are serious gains, especially for someone who has been told she has particularly deep and thin veins in her arms, making each infusion with the previous drug a trial for her and medical staff.

“They would be like, ‘Well, we know you have veins because you’re alive, but where they are, we don’t know,’” Kim said.

But focusing too much on convenience, she added, misses the bigger point.

Those drugs were not available to her family members and others, and rare diseases often don’t attract research investment because costs must be spread across a small pool of potential patients.

Having two drugs appear so quickly for a rare condition that previously had no treatments makes Kim and other patients with the same condition feel seen.

“It just makes you feel like there is hope, that there are researchers out there who are looking at this disease, even though it’s so rare, and looking for ways to improve our condition — hopefully someday even find a cure,” Kim said.

Everything comes with a cost and, as with most treatments for rare diseases, Amvuttra’s is said to be jaw-dropping.

A single dose costs $244,042, according to drugs.com, a drug price clearinghouse. Most patients will need to petition their insurance companies or public coverage such as Medi-Cal or Medicare in order to afford treatment. Alnylam offers an assistance program for those who are uninsured or underinsured with no prescription coverage.

Dr. Marcus Urey, a cardiologist at UC San Diego Health who specializes in treatment of amyloidosis and is Kim’s treating physician, said the financial hurdles have not been insurmountable so far, though exercising insurance companies’ appeals processes has sometimes been necessary.

“We haven’t had anyone that’s been denied,” Urey said.

“It just makes you feel like there is hope, that there are researchers out there who are looking at this disease, even though it’s so rare.”

— Nancy Kim

Both drugs can reduce symptoms by reducing protein production, and logically such a change could result in a significant improvement in long-term survivability for patients, since less buildup inside vital organs should mean less organ failure.

Though that’s certainly the hope, clinical trials were focused on the drug’s safety and ability to lessen symptoms, Urey said. Advantages in long-term survival will take additional research.

“It would make sense that if we halt disease progression early, we would see benefit in other organs, but that’s speculative at this point,” Urey said.

The condition’s rarity is due partly to its difficulty of diagnosis. Because amyloid buildup results in commonly diagnosed medical problems, especially heart failure and carpal tunnel syndrome, it’s possible the true cause often goes unrecognized.

A confluence of certain neuropathic symptoms such as tingling in the extremities, difficulty walking or carpal tunnel syndrome with certain cardiac symptoms such as shortness of breath, retention of fluid in the legs and irregular heartbeat can lead specialists to look closer for amyloidosis.

“A quick question that I ask when patients come to me with heart failure symptoms is whether they have carpal tunnel syndrome,” Urey said. “Not every patient with carpal tunnel syndrome is going to have amyloidosis, but if they have the two, I’ll look extra close to make sure I’m not missing it.” ◆