Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Committed to the Development of Tests for Early Diagnosis of Patients with Menkes Disease
08 Nov 2022
SAN DIEGO and CALIFORNIA, Md., Nov. 8, 2022 /PRNewswire/ -- Sentynl Therapeutics, Inc. ("Sentynl") a US-based biopharmaceutical company focused on bringing innovative therapies to patients living with rare disease, joins the global Menkes disease community including the Menkes Foundation ("Menkes Foundation") in recognizing the month of November as Menkes Disease Awareness Month. In support of patients and families affected by this devastating and fatal disease, Sentynl is collaborating with researchers at a world-leading academic medical center to develop and validate a novel laboratory test that could potentially diagnose Menkes disease at birth. "It is our aspiration that a test for Menkes disease will be integrated into every state's Newborn Screening Program to aid in the early diagnosis of patients who might otherwise be missed," stated Matt Heck, Sentynl's Chief Executive Officer.
Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Supports Development of Tests For Early Diagnosis
Today, most patients with Menkes disease are misdiagnosed or diagnosed late after irreversible neurodevelopmental damage has occurred. Over the last year, Sentynl has been advocating for the inclusion of the ATP7A gene in commercially-available genetic panels. Sentynl is also proud to support initiatives like BeginNGS, a Rady Children's Institute for Genomic Medicine led pilot, with the goal of leveraging rapid whole genome sequencing (rWGS) to significantly improve identification of pediatric genetic disorders.
Drew and Jamie Eckman, Founders of the Menkes Foundation stated that "the work Sentynl is spearheading to advance available and early genetic testing for suspected patients with Menkes disease is what the community has desperately needed. The development of this test represents a key milestone in the fight against Menkes disease and to see it incorporated into newborn screening will be an incredible achievement that will save lives. We are thrilled to partner with Sentynl Therapeutics in promoting awareness of Menkes disease."
About Menkes Disease
Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of the copper transporter ATP7A. The minimum birth prevalence for Menkes disease is believed to be 1 in 34,810 live male births, and potentially as high as 1 in 8,664 live male births, based on recent genome-based ascertainment (Kaler SG, Ferreira CR, Yam LS. Estimated birth prevalence of Menkes disease and ATP7Arelated disorders based on the Genome Aggregation Database (gnomAD). Molecular Genetics and Metabolism Reports 2020 June 5;24:100602). The condition is characterized by distinctive clinical features, including sparse and depigmented hair ("kinky hair"), connective tissue problems, and severe neurological symptoms such as seizures, hypotonia, failure to thrive, and neurodevelopmental delays. Mortality is high in untreated Menkes disease, with many patients dying before the age of three years old. Milder versions of ATP7A mutations are associated with other conditions, including Occipital Horn Syndrome and ATP7A-related Distal Motor Neuropathy. Currently, there is no FDA-approved treatment for Menkes disease and its variants.
About Sentynl Therapeutics
Sentynl Therapeutics is a US-based biopharmaceutical company focused on bringing innovative therapies to patients living with rare diseases. The company was acquired by the Zydus Group in 2017. Sentynl's experienced management team has previously built multiple successful pharmaceutical companies. With a focus on commercialization, Sentynl looks to source effective and well differentiated products across a broad spectrum of therapeutic areas to address unmet needs. Sentynl is committed to the highest ethical standards and compliance with all applicable laws, regulations, and industry guidelines. For more information, visit .
About the Menkes Foundation
For more information about the Menkes Foundation, please visit .
Contacts:
Michael Hercz
Sentynl Therapeutics, Inc.
ir@sentynl.com
Jamie Eckman
The Menkes Foundation
info@themenkesfoundation.org
For more details,please visit the original website
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