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To globally identify patients with SLS and to understand & raise awareness of the clinical spectrum of this disease
May 30, 2018
By: Betsy Louda
CENTOGENE has entered into an agreement with Aldeyra Therapeutics Inc., a biotechnology company developing next-generation medicines to improve the lives of patients with immune-mediated diseases.
Under the terms of the agreement, CENTOGENE will collaborate with Aldeyra to globally identify patients with SLS and to understand the clinical spectrum of this disease. The goal of the agreeement is to support physicians and patients with early diagnosis through genetic testing that could potentially lead to the identification of novel therapeutic developments and raise awareness of the disease.
“The majority of patients with a rare hereditary disease endure a considerable diagnostic odyssey before they have certainty about their condition. Global awareness of SLS is very limited, which means that physicians often don’t even think of SLS when being confronted with the patient’s symptoms and consequently don’t perform the required genetic tests. This challenge is a prime example where our deep and global knowledge data bank (CentoMD®) can bring a tremendous benefit as a universal healthcare solution to the rare disease community,” said Dr. Arndt Rolfs, chief executive officer and founder of CENTOGENE.
“The partnership with CENTOGENE complements the Aldeyra Registry for Patients with SLS, which was designed to unite patients and raise global awareness for the disease,” said David Clark, M.D., M.R.C.P., A.F.P.M, chief medical officer of Aldeyra. “Additionally, having access to CENTOGENE’s genetic database of patients with SLS demonstrates the critical role of genetics in identifying patients and developing medicines for diseases where treatments are non-existent.”
SLS is inherited in an autosomal recessive manner and patients display a broad spectrum of symptoms including: ichthyosis (severely dry, thickened, scaly skin), spacisity in the legs and congnitive delay. Patients suffering from SLS cannot properly break down molecules called fatty aldehydes resulting in an abnormal accumulation of these molecules leading to symptoms of the disease. There is currently no FDA-approved treatment for SLS.
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