ABOUT FARBER DISEASE

(ACID CERAMIDASE DEFICIENCY)

Farber disease is a rare lysosomal storage disease caused by mutations in the ASAH1 gene, resulting in a deficiency of an enzyme called acid ceramidase. This deficiency leads to the accumulation of ceramide within cells, which causes a range of symptoms in various levels of severity, depending on the patient. Farber disease patients typically present with the cardinal symptoms of joint contractures or swelling, subcutaneous nodules, and/or a weak or hoarse voice.

More severe symptoms may also include impaired cognitive development due to brain involvement as well as impact on lungs, liver and bones (osteolysis). Disease onset is usually in early childhood but may occur later in life. In its most severe form, many patients don’t live beyond the age of two. Farber disease is thought to be significantly underdiagnosed, with many cases misdiagnosed as juvenile idiopathic arthritis (JIA).

Today, there is no FDA-approved treatment for Farber disease. Enzyvant is poised to become the first company to have a clinical program investigating a potential treatment for Farber disease—RVT-801, a recombinant form of human acid ceramidase for investigational use as an enzyme replacement therapy in acid ceramidase deficiency manifesting as Farber disease.

In addition to its preclinical development program, Enzyvant is dedicating considerable resources toward improving awareness and diagnosis of Farber disease:

  • Enzyvant is conducting the first natural history study of patients with Farber disease to better define the natural course of the disease and the relationship between specific symptoms, biomarkers, and prognosis.

  • Enzyvant is also collaborating with PerkinElmer to offer no-cost genetic testing to people suspected of having Acid ceramidase deficiency. Please CLICK HERE for more information about genetic testing.

PATIENT AND FAMILY SUPPORT

Enzyvant supports many patient advocacy organizations, including the National Tay-Sachs & Allied Diseases Association (NTSAD), which offers patient support and disease-related information for Farber disease patients and their families.

Additional sites to visit for information about Farber disease include:

MEET EMY

Emy Farber Disease Patient

When Emy was born, there was nothing that could have led us to think that she would not be with us for very long. She was beautiful, awake and quiet even when she was crying. Everyone noticed her cute little hoarse voice. Breast feeding did not work although mommy tried her best… the bottle was the way to go.

Since Emy was our first baby, we adapted ourselves naturally and instinctively without really noticing that something was going wrong. Sometimes the days would be more difficult, but more often Emy would be cheerful, smiling and would sleep well. Emy did not tolerate to being on her belly but her muscle tone was low so we had to find ways to help her improve it. Emy did not like travelling by car either so we limited our trips with her to keep her happy. By instinct, we always treated Emy with delicacy. She knew how to get from us all the gentleness she wanted and deserved.

When she was about 4 months old, we started assembling together all the little things about our daughter that were different: low muscle tone, hoarse voice, delay in motor development… We began to worry but our family and friends would try to reassure us, saying that things would get back to normal and that every child developed differently.

At 6 months, Emy would still not hold up her head and she had not gained much strength either. She did not make many sounds and feeding her had become very hard. She would often refuse the bottle. Redness started to appear on her little fingers, which appeared swollen. She had developed her own way of grabbing things by acting like a crab using only her thumb and index. The other fingers would not cooperate, and she would cry if we tried to unfold them. As weeks went by, it got worse and worse. Her fingers would stay folded in her hands most of the time. And changing her diapers without any tears from her was an achievement.

We then realized that our daughter seemed to be suffering with every movement she made or that we would make her do. The pieces of the puzzle were coming together and we were getting more worried … All of this was not normal and we had to take Emy to see a specialist. After that, everything snowballed…

In hindsight, we understand that the disease had been there since the beginning. The breastfeeding not working, the hoarse voice and all those other little details …. However, we have always given the best of ourselves to Emy and have loved her the way she was with all of our hearts and with all the tenderness that she inspired. Her smile is with us in all of our thoughts.