Message from Aceragen

Aceragen is a rare disease biopharmaceutical company developing ACG-801, an investigational enzyme replacement therapy for the treatment of acid ceramidase deficiency presenting as Farber disease.

Alexander Solyom, MD, and Katie Crosby, genetic counselor, are looking to connect with healthcare providers following patients with ASAH1-related conditions (Farber disease or SMA-PME) in the interest of ensuring that they could be provided up-to-date information about the development program and any potential clinical studies.

For more information regarding upcoming clinical studies or no-cost genetic testing for patients suspected of having ASAH1 related disease, please contact them at

The most common symptoms of Farber disease include:

  • Joint disease (arthritis and/or contractures)

  • Subcutaneous nodules

  • Hoarse voice

Farber disease has a wide phenotypic spectrum from rapidly progressive disease with death in infancy to slowly progressive disease and survival into late adulthood. Many patients are misdiagnosed with juvenile idiopathic arthritis (JIA) or early onset rheumatoid arthritis.

The most common signs of SME-PME include:

  • Lower motor neuron disease

  • Seizures

  • Myoclonus

For more information, please contact