With the goal of identifying patients with Duchenne muscular dystrophy (DMD) in the Middle East and North Africa, genetic diagnostics company Centogene has announced a year-long strategic collaboration with Sarepta Therapeutics.
The agreement calls for patients who are multiplex litigation-dependent probe amplification (MLPA) negative to undergo diagnostic Centogene testing using deletion/duplication analysis and full-length sequencing of the DMD gene.
In addition, the company will provide diagnostic testing to physicians treating patients with DMD-related symptoms. By using CentoCard, Centogene’s proprietary dried blood collection kit, physicians may submit a small amount of patient blood.
“Our collaboration with Sarepta Therapeutics further demonstrates Centogene’s commitment to accelerating the development of new orphan drugs by using our knowledge of the global rare disease market — in particular, our expertise in the identification of DMD patients,” Arndt Rolfs, Centogene CEO, said in a press release.
“We remain dedicated to transforming the science of genetic information into solutions, and creating hope for patients with rare diseases and their families,” Rolfs said.
In DMD, accurate genetic diagnosis is important for family planning and patient care. As mutation-specific therapies are being developed, correct diagnoses also are key for assessing whether patients are eligible for treatments.
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DMD results from mutations in the dystrophin-encoding DMD gene, the largest gene in humans. Large deletions and duplications are most common, but small mutations have been found.
MLPA is a very sensitive and fast technique used to identify deletions and duplications, and can evaluate all 79 exons in dystrophin genes in DMD patients. Patients who are MLPA negative are sometimes tested by other methods, including polymerase chain reaction (PCR) and immunohistochemistry, a lab test that uses antibodies to test for certain markers in tissue samples.
“Sarepta’s goal is to bring a better life to all eligible individuals with DMD around the globe, and to do so with great expediency,” said Doug Ingram, Sarepta’s president and CEO. The “agreement with Centogene is a step to achieving this goal,” he said.
The most common form of muscular dystrophy in children, Duchenne affects approximately 300,000 people worldwide.
Centogene is a global leader in using genetic and proteomic knowledge to enable patients, clinicians and pharmaceutical partners to identify, and accelerate treatments for, rare diseases.