What the trial was testing
The NEURO-TTRansform enrolled 168 patients with hereditary attr amyloidosis. The study was sponsored by Ionis Pharmaceuticals and tracked outcomes across the full group of patients who matched the trial's eligibility profile.
It was a large trial designed to confirm whether the treatment works well enough for wider use. Trials at this stage are designed to produce evidence regulators and physicians can act on — not just observations to follow up later.
What the results showed
82% drop in transthyretin protein levels and better nerve function.
JAMA · 2023 · NCT04136184
These findings — that in transthyretin protein and improved nerve function on monthly eplontersen — were published in the JAMA and represent the headline result of the study.
Researchers tracked outcomes across 168 patients enrolled in the trial. The result was consistent enough across the group that the team felt confident reporting it.
What this means for patients
For patients with hereditary attr amyloidosis, this result changes the calculus on what to ask their care team about. Whether it changes day-to-day care depends on factors like disease subtype, prior treatments, and where the patient is in their care journey.
What you can do now
Eplontersen (Wainua) is FDA-approved and available now for hereditary ATTR amyloidosis with nerve disease. It is given as a monthly under-the-skin injection that can be done at home. Ask a neurologist about treatment for confirmed ATTR amyloidosis.
Eligibility for the treatments mentioned above depends on specific test results and clinical history. Bring this summary, the trial name, and your most recent labs or pathology report to your next visit.
Open hereditary attr amyloidosis trials
The Italian Transthyretin Amyloidosis Web-Network
The study aims, by generating a large registry of patients with ATTR amyloidosis, including data at diagnosis and during follow up, to describe the natural history of ATTR amyloidosis in a real-world setting and to define and validate prognostic models, response criteria applicable at any point of the disease. The registry will also be used for data sharing and to allow the possibility of a close collaboration amongst the amyloidosis experts of the ARTC and all the physicians around the Country involved in the diagnosis and management of systemic amyloidosis. Thanks to the online registry, the diagnostic facility of the ARTC will be made available to requesting physicians.
Early Diagnosis of Age-Linked CArdiac TransThyRetin Amyloidosis by Selective Screening in Spinal Stenosis Surgery
The goal of this observational study is to keep track of the cardiological follow-up of patients who have undergone back surgery because of symptomatic narrowing of the spinal canal and in whom microscopic examination of the tissue removed during this surgery showed a high amount of local deposits of small proteins. This finding may be an early sign of a condition in which other organs (especially the heart) may also be affected by these proteins, called amyloidosis. Patients who participate in this study, will be followed up for life. During the first routine consultation with the cardiologist, the physician-investigator will collect information, such as demographics (age, weight, height, gender), medical history, medication, symptoms and the results of prescribed examinations. These examinations include microscopic examination of tissue removed during the surgery, blood tests, electrocardiography, echocardiography and a bone scan. These examinations are clinically necessary and appropriate, and patients should undergo them even without participating in the study.