Orphan Drug Designation Granted to Investigative Therapy for ATTR Amyloidosis

The FDA has just announced that they have granted Orphan Drug Designation to an investigative treatment called eplontersen. This therapy is being studied as a treatment option for transthyretin (ATTR) amlyoidosis. It is being developed by AstraZeneca and Ionis Pharmaceuticals.

ATTR refers to a group of conditions. One of the diseases in this group is familial amyloid polyneuropathy (FAP). FAP is a hereditary form of the condition caused by TTR gene mutations. Without treatment, TTR builds up in the body to toxic levels. The protein often accumulates within the nerves in the spinal cord and the brain and patients face extreme nerve damage.


Eplonteresen works to prevent toxic protein deposits from building up in the body. It is an RNA targeted treatment which stops the production of the mutated TTR protein. Researchers believe it has the potential to stop the progression of amyloidosis.

Clearly, the FDA also believe it has promise.

Orphan Drug designation is only given to a select number of therapies which the FDA believes have promise for treating a rare disease. The designation provides many incentives for the development of the therapy to aid in bringing it to patients faster.

Phase 3 Trial

Eplontersen is currently being examined in a Phase 3 clinical trial called NEURO-TTRansform.

This trial is examining the efficacy of this treatment in patients diagnosed with stage 1 or stage 2 FAP.

The primary aim of the investigation is to see changes in TTR levels within the blood. They will also study the progression of nerve damage and patient’s quality of life.

All participants will be randomly assigned to either receive Tegsedi, an already approved therapy, once each week, or eplontersen, once every 4 weeks, for one year. At the 8 month mark those given Tegsedi can switch to the new eplontersen treatment.

After the completion of this trial, results will be compared to a Phase 2/3 trial which had tested placebo compared to Tegsedi for FAP patients.

In addition to these trials, the CARDIO-TTRansform Phase 3 trial will examine this therapy as a treatment for ATTR amyloidosis patients who also have cardiomyopathy. This trial is currently enrolling participants. If you would like to find out if you qualify, click here.

The application for FDA approval of eplontersen for ATTR amyloidosis is anticipated to be submitted by the end of 2022. You can read more about this investigative therapy here.

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