Over 30 million people in the European Union (EU) are living with a rare disease. Yet rare disease drug development is still somewhat stifled. Orphan designation helps to incentivize drug development within the rare disease space. In the EU, Orphan status is granted to medication intended to treat, prevent, or diagnose a rare condition (affecting no more than 5 in every 10,000 people in the EU). This medication must either fill an unmet need or have significant benefit over available options. Drug developers receive incentives such as reduced fees, protocol assistance, and ten years of market exclusivity upon drug approval. First reported in Sarcoidosis News, efzofitimod for sarcoidosis has been granted Orphan drug status.
Developed by aTyr Pharma, efzofitimod is described as:
a potential first-in-class, disease modifying therapy for patients with severe inflammatory lung diseases with high unmet need. Efzofitimod works by selectively modulating Neuropilin-2 (NRP2) to downregulate the innate and adaptive immune responses in uncontrolled inflammatory disease states to resolve inflammation and prevent subsequent fibrosis.
In a Phase 1/2 clinical trial, efzofitimod showed significant benefits for patients living with pulmonary sarcoidosis. The treatment helped improve overall lung function, reduced corticosteroid reliance, and assisted with symptom management. Researchers are now exploring the safety, efficacy, and tolerability of efzofitimod in a Phase 3 study. During the study, researchers will compare 3mg/kg and 5mg/kg efzofitimod with a placebo.
What is Sarcoidosis?
When the body identifies a foreign invader or harmful substance, the immune system releases chemicals designed to isolate and destroy the substance. This causes inflammation. After the invader is destroyed, the inflammation resolves. However, this is not the case in sarcoidosis; rather, an overactive immune system causes continued inflammation. Tiny bundles of inflammatory cells called granulomas also form throughout the body. Granulomas most commonly form in the lungs and lymph nodes. They may also be found in the skin, eyes, heart, or other organs. In some individuals, pulmonary sarcoidosis can lead to pulmonary fibrosis. Risk factors include a family history of sarcoidosis, being female, or being of African-American descent.
Symptoms of sarcoidosis vary, but can include:
- Shortness of breath
- Swollen lymph nodes
- Persistent dry cough
- Nodules under the skin
- A rash of red/purple bumps that may be warm or tender
- Irregular heartbeat
- Chest pain
- Sores or lesions on the nose, cheeks, and ears
- Unintended weight loss
- Blurred vision
- Eye pain, burning, itching, or redness
- Light sensitivity
- Joint pain and swelling
Many people with sarcoidosis recover with little long-term effects. In some cases, sarcoidosis resolves on its own and in others, treatment helps. A smaller subset of individuals develop chronic sarcoidosis. Treatment options include immunosuppressants, prednisone, and antimalarial medication.