Symptoms such as joint inflammation, small lumps under the skin, and a weakened or hoarse voice, could point to rare conditions such as Farber disease (Zielonka, M et al. Genetics in Med. 2017; a cross-sectional quantitative analysis of the natural history of Farber disease).
If you’ve been concerned about a potential misdiagnosis, our team can meet with you in just a few minutes.
Farber disease is a rare disease that is commonly misdiagnosed as juvenile idiopathic arthritis (JIA) and other similar conditions.
Here at Clara Health, we're partnering with Enzyvant to help spread the word about Farber disease and accelerate the pathway to new treatments for patients who need it most.
Enzyvant is dedicated to developing therapies for rare conditions like Farber disease. With a world-class roster of researchers and patient advocates, Enzyvant is leading the way in breakthrough research for people living with these diseases.
Farber disease is often misdiagnosed. Together, Clara Health and Enzyvant are spreading awareness about the common symptoms of this rare condition.
If you or your child show these signs of Farber disease and care concerned about a misdiagnosis, our team can help. Simply reach out to [email protected]
Currently, the Enzyvant research team is conducting a natural history study to better understand the presentation, likely course, and impact of this frequently misdiagnosed disease.
All patients diagnosed with Farber disease are eligible to participate in advancing research on this rare condition. Additionally, if you have had a loved one pass away who was diagnosed with Farber disease, their records are also eligible for this study and could help lead to a deeper understanding of the condition.
A diagnosis of Farber disease is based on experiencing the typical symptoms and having these specific biochemical and genetic criteria (genetic testing will be provided for free to any patients who do not have the required tests).
White blood or skin cells (or other biological sources like plasma) with an acid ceramidase activity value that is less than 30% of what the normal value is. For deceased patients, finding the molecule ceramide in the cells from their histopathologic section tissue is enough to confirm the diagnosis.
Changes in the gene for acid ceramidase (named ASAH1) or cDNA that show the acid ceramidase protein might not be functioning as well as it should be.
This study will differ from patient to patient. Simply submitting your medical information may be the extent of your participation, or you may take an assessment every three to six months. For details specific to you, simply contact [email protected]
If you've been concerned about a potential misdiagnosis, our team can meet with you at no cost.
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Find out now if you or your child have experienced the symptoms of Farber disease.