In the United States, Orphan Drug designation is granted to drugs or biologics intended to treat, prevent, or diagnose rare conditions. A “rare” condition is defined as one affecting fewer than 200,000 people within the country. Drug developers whose products receive this status also earn incentives such as tax credits, fee waivers, and seven years of market exclusivity upon approval. According to a September 7th, 2022 news release from biopharmaceutical company AceLink Therapeutics, Inc. (“AceLink”), the company’s product AL01211 earned Orphan Drug designation from the FDA. AL01211 is designed for patients with Fabry disease.
AceLink describes AL01211 as:
a non-brain penetrant GCS (glucosylceramide synthase) inhibitor with superior properties to other GCS inhibitors currently in development.
AL01211 is taken orally once per day. Since it is non-brain penetrant, researchers believe that it could more effectively target and treat affected organs. Outside of Fabry disease, researchers are also evaluating AL01211 as a potential therapy for diabetic nephropathy and polycystic kidney disease (PKD).
While AL01211 has been studied in healthy volunteers and those with autosomal dominant polycystic kidney disease (ADPKD), AceLink hopes to run Phase 2 studies regarding Fabry disease in the future.
What is Fabry Disease?
Fabry disease is a rare inherited lysosomal storage disorder caused by GLA gene mutations. Normally, GLA encodes for the production of alpha-galactosidase A, an enzyme which helps break down fatty substances called globotriaosylceramide. In Fabry disease, the enzyme doesn’t work properly, causing the fatty substance to accumulate in cells. Fabry disease may be considered classic (a more severe form which manifests during childhood or early adulthood) or late-onset/atypical (in which symptoms don’t appear until age 30 or later). The late-onset form typically affects the kidneys or heart.
1 in every 40,000-60,000 males is born with Fabry disease. While women are often thought of as asymptomatic or mild, the Fabry Outcome Survey highlighted how pain, gastrointestinal symptoms, and cerebrovascular events are common in these patients.
Symptoms can (but do not always) include:
- Dizziness
- Tinnitus (ringing or roaring in the ears)
- Hearing loss
- Head or cold intolerance
- Proteinuria (excess protein in the urine)
- Diarrhea or constipation
- Abdominal pain
- Decreased ability to sweat
- Small bundles of dark red spots on the skin (angiokeratomas)
- Acroparesthesias (recurrent pain in the hands and feet)
- Dull, cloudy vision (corneal opacity)
- Swelling of the lower extremities
