Public Release: 

Saint Louis University enrolls first US patient in rare heart disease trial

Genetic mutation impacts an estimated 40,000 people worldwide

Saint Louis University

ST. LOUIS -- Earlier this year, investigators at Saint Louis University enrolled the first U.S. patient in a worldwide Phase 3 clinical trial of a medication to treat patients who have a rare form of heart failure due to a gene mutation. The mutation results in transthyretin (ATTR)-mediated familial amyloidotic cardiomyopathy (FAC).

FAC is one of the clinical manifestations of a form of heart failure that has been under-recognized until recently. Part of a syndrome called "Transthyretin mutant amyloidosis" or "TTR," the disease impacts an estimated 40,000 people worldwide but has a higher incidence among African-Americans in the United States.

The ongoing study, sponsored by Alnylam Pharmaceuticals, is a randomized, double-blind, placebo-controlled, global study designed to evaluate the efficacy and safety of a novel RNAi investigational agent. RNA is the intermediary between DNA and the synthesis of proteins.

Paul Hauptman, M.D., a SLUCare cardiologist and professor of internal medicine at Saint Louis University School of Medicine, says the treatment could be revolutionary for those with familial amyloidosis heart disease.

"Right now there are no approved treatments and prognosis for patients is generally poor," he said. "To have a potential therapeutic option to offer patients is remarkable."

Hauptman noted that familial amyloidosis is often not considered an initial diagnosis of heart failure. Many patients with TTR gene mutations aren't correctly diagnosed until months or even years of worsening symptoms.

"Many times it's not until patients fail to respond to conventional therapy that the diagnosis might be considered," Hauptman said. "Clues to the possibility that TTR is involved include thickening of the walls of the heart and an unusual appearance of the heart muscle on imaging with echocardiography."

Leon Silas, 76, the first U.S. patient enrolled in the study, was initially diagnosed with congestive heart failure in 2011. He said his heart was working at 15 percent of its capacity when he sought a second opinion from Hauptman.

"I had never heard of amyloids when he first told me about them," Silas said.

Familial amyloidosis is caused by a gene mutation that produces a structural abnormality in the TTR protein which normally transports vitamin A in the body. Symptoms of the disease usually do not appear until middle age. A simple blood test is required to determine if there is a mutation in the TTR gene.

Silas has a strong family history of heart disease. After enrolling in the trial, Silas told his brother in North Carolina to get tested as well. His test was negative, but the Silas said he would continue to urge his children, nieces and nephews to be tested.

"Even if it doesn't help me, this study could be of help to someone else down the road," he said. "It's an easy thing to get a shot once a week knowing it might be able to help people."

This is a double-blind trial, meaning both the investigators and the participants are unaware of the treatment the participant is receiving.

Patients with familial amyloidosis may have some of the following symptoms:

  • Heart failure symptoms including shortness of breath, swollen legs, feet or ankles and fluid in the lungs
  • Abnormal ECG
  • Enlarged heart
  • History of Carpal Tunnel Syndrome


Saint Louis University is currently recruiting additional patients to participate in the trial. Those wishing to participate must be 18 years of age or older, have a history suggestive of cardiac amyloidosis and be willing and able to comply with protocol required assessments. More information is available at and

The trial period for each patient lasts 18 months. Patients are evaluated at specific points in the trial at Saint Louis University Hospital, but the weekly shots are given by a home health care professional.

Clinicians who believe their patients might have the TTR gene mutation and wish to be evaluated for participation in the study should contact the office of the clinical research nurse coordinator at 314-577-8876.

Established in 1836, Saint Louis University School of Medicine has the distinction of awarding the first medical degree west of the Mississippi River. The school educates physicians and biomedical scientists, conducts medical research, and provides health care on a local, national and international level. Research at the school seeks new cures and treatments in five key areas: infectious disease, liver disease, cancer, heart/lung disease, and aging and brain disorders.

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