It can sometimes be difficult to spur research and drug development within the rare disease space. For this reason, the Orphan Drug Act was created. The Orphan Drug Act provided incentives for drug developers to begin creating therapeutic options for those with rare conditions (i.e. any condition affecting fewer than 200,000 people in the country). Incentives include fee waivers, tax credits, increased regulatory assistance, and seven years of market exclusivity upon drug approval. According to a news release from biopharmaceutical company Attralus, Inc., the company’s therapy AT-01 recently earned Orphan Drug designation as a diagnostic for transthyretin amyloidosis (ATTR amyloidosis).
Attralus explains that:
AT-01 utilizes our pan-amyloid technology combined with iodine-124 to create an amyloid-specific imaging radiotracer to diagnose and quantify systemic amyloidosis.
Within clinical studies, researchers have found that AT-01 can identify different forms of amyloid throughout various key organs. This can be crucial to diagnosis and helping to reduce the length of the diagnostic process. More so, researchers and scientists hope that AT-01 can assess disease burden and also help to monitor patients and determine whether there has been any disease progression.
So far, AT-01 has been evaluated in a Phase 1/2 clinical study. Data will be presented in early September 2022.
What is Transthyretin (ATTR) Amyloidosis?
Transthyretin amyloidosis exists under the larger umbrella of amyloidosis, a condition which occurs when abnormal proteins (amyloids) accumulate and form deposits throughout organs. There are other forms of amyloidosis, including primary (AL), secondary (AA), dialysis-related, senile systemic (SSA), and organ-specific. ATTR amyloidosis is part of the familial category, which also includes non-ATTR amyloidosis.
Typically, ATTR amyloidosis results from TTR gene mutations. These mutations cause transthyretin (TTR) to misfold and form clumps in various organs. In many cases, ATTR amyloidosis affects the heart and nervous system. Symptoms vary based on the specific affected part of the body. They can, but do not always, include:
- Nausea and vomiting
- Unintended weight loss
- Shortness of breath
- Issues with bladder control
- Nephrotic syndrome
- Diarrhea or constipation
- Peripheral and autonomic neuropathy
- Sensorimotor impairment
- Renal failure
- Appetite loss or feelings of fullness
- Atrial fibrillation
- Chest pain
- Insomnia
- Fatigue
- Dizziness
- Swelling of the lower extremities
