Bruton Type Agammaglobulinemia

Potential to be the first IVD for the screening of Wilson Disease, Wiskott-Aldrich Syndrome, X-linked Agammaglobulinemia and Adenosine Deaminase Deficiency SEATTLE, March 29, 2024 /PRNewswire/ -- Key Proteo, a pioneering proteomics diagnostics company specializing in the enhanced early detection of rare but treatable genetic disorders, today announced that it has submitted a de novo classification request to the U.S. Food and Drug Administration (FDA) for its first in vitro diagnostic Key Proteo Newborn Screening Kit. The novel proteomics-based screening panel addresses a critical, unmet need to aid in the early identification of four treatable rare genetic disorders that current newborn screening programs do not typically test for, including Wilson Disease (WD), Wiskott-Aldrich Syndrome (WAS), X-linked Agammaglobulinemia (XLA) and Adenosine Deaminase Deficiency (ADA). Early screening has the potential to enable timely intervention that can help change the clinical trajectory and relieve the burden of disease for patients and their families afflicted by these potentially devastating disorders. The submission of Key Proteo's Newborn Screening Kit 1 comes after screening over 22,000 newborn samples in an ongoing pilot study in Washington state. Subsequently, Key Proteo successfully completed a clinical study that included 3,294 newborn samples analyzed at 3 sites across North America. "We are excited to lead the charge towards changing the clinical course of treatable rare genetic disorders that are currently being missed," said Mark Willig, President and CEO of Key Proteo. "Enhanced early screening is key to enabling clinical interventions that can significantly help reduce morbidity and mortality. I am extremely proud of the tireless efforts that our team has made over the past five years to reach this important milestone not just for our company, but for the patients and their families that will benefit from these life-altering screening tools." With its initial focus on addressing unmet needs for WD, WAS, XLA and ADA in the newborn screening space, nearly 100 treatable genetic disorders have been identified that could potentially be adapted to Key Proteo's dynamic proteomics-based platform. The in vitro diagnostic Key Proteo Newborn Screening Kit 1 will only be available for commercialization once the FDA has completed its process. Currently, Key Proteo Newborn Screening Kit 1 is available as an RUO offering. In parallel path, Key Proteo is also expanding its operations to include a CLIA-certified laboratory to serve unaddressed newborn screening needs among public health laboratories, reference laboratories, hospital laboratories and other providers associated with neonatal care that may prefer to send-out for these and other critically important newborn screening tests. ABOUT WILSON DISEASE, WISKOTT-ALDRICH SYNDROME, XLA and ADA Wilson Disease, affecting approximately 1 in 30,000 individuals, is characterized by excess copper accumulation in the liver, brain, and eyes, and can lead to liver disease, central nervous system dysfunction and death. Timely diagnosis and treatment are vital to prevent long-term disability and life-threatening complications. Impacting 1 in 100,000, Wiskott-Aldrich Syndrome is characterized by immunodeficiency and impaired blood clotting. Symptoms include bruising, susceptibility to infections and immune and inflammatory disorders, and heightened cancer risk. Eczema often accompanies the syndrome. WAS patients face increased vulnerability to infections, bleeding, and cancers, often leading to premature mortality. X-linked Agammaglobulinemia, impacting around 1 in 250,000 individuals, mainly males, is marked by severely low immunoglobulin levels. Typically, symptoms manifest as recurrent bacterial infections from around 6 months of age, with commonly diagnosed infections including lung, ear, sinus, eye, and skin infections, along with those linked to chronic diarrhea. Adenosine Deaminase Deficiency (ADA), impacting roughly 1 in 500,000 individuals, is a primary cause of severe combined immunodeficiency (SCID), impairing the body's ability to combat infections. Symptoms typically emerge before 6 months, ranging from pneumonia to chronic diarrhea and delayed development. While most symptoms surface early, some may manifest later in life. ABOUT KEY PROTEO Key Proteo is on a mission to save lives and relieve the burden of disease for patients and their families afflicted by rare but treatable genetic disorders through early screening. Many treatable genetic disorders are difficult to detect, but when found early, intervention can be enabled to help change the clinical course. With its initial focus on newborns, Key Proteo's dynamic proteomics-based platform can be adapted to screen for rare but treatable genetic disorders across other patient populations. Key Proteo's patent-pending Immuno-SRM platform and associated reagent kits can perform targeted proteomic analysis of extremely low abundance peptide biomarkers from a few drops of blood. This proprietary technology expands the scope of detecting previously undetectable genetic disorders in newborns with high accuracy, effectiveness and efficiency, and has demonstrated faster turnaround times and lower costs when compared to next-generation sequencing (NGS). FORWARD-LOOKING STATEMENTS Certain information contained in this press release constitutes forward-looking statements. These forward-looking statements involve a number of risks and uncertainties that could cause actual future results to differ materially from those anticipated. Forward-looking statements represent the Company's estimates only as of the date such statements are made and the Company undertakes no obligation to update forward-looking statements except as required by applicable securities laws. Readers are cautioned that forward-looking statements are not guarantees of future performance and are cautioned not to place undue reliance on any forward-looking statements. For more information, visit . #KeyProteo #DeNovoClassification #NewbornScreening #RareDisease #WilsonDisease #WilsonDiseaseAssociation #WiskottAldrichSyndrome #XLA #AdenosineDeaminaseDeficiency #ImmuneDeficiencyFoundation #Proteomics #Biotech #VentureCapital #LifeSciences #HealthTech #BioTechNews CONTACT Sean Sandin Chief Operating Officer [email protected] SOURCE Key Proteo

The DynamX BTK System is intended for the treatment of BTK vessels impacted by CLTI by widening the use of the company’s novel bioadaptor platform technology beyond the treatment of coronary artery disease DynamX BTK system treats patients with CLTI. (Credit: Arek Socha from Pixabay) US-based medical technology company Elixir Medical has secured the US Food and Drug Administration (FDA) Breakthrough Device Designation for its DynamX BTK System. DynamX is a novel, adaptive implant intended for use in the treatment of narrowed or blocked vessels below the knee (BTK) in patients with chronic limb-threatening ischemia (CLTI). The system leverages the DynamX Bioadaptor platform, a medical technology designed to uncage the vessel and restore normal vessel motion and function after PCI or BTK intervention. With a unique mechanism of action (MOA), the technology maintains dynamic support of the diseased vessel after uncaging, establishing a new standard of care for vascular interventions. Elixir Medical CEO Motasim Sirhan said: “The Bioadaptor platform was developed to transform treatment of coronary and peripheral artery disease. “We appreciate the FDA recognition of our innovation for treating the CLTI population with BTK disease and its potential impact on the patients suffering from vascular disease.” Peripheral arterial disease (PAD) is a condition characterised by narrowing or blockage of the blood vessels in the leg, primarily caused by the buildup of fatty plaque in the arteries. CLTI is an advanced stage of PAD and is associated with risk to both life and limb, with one-year estimates of mortality over 20% across a range of observational studies. According to Elixir, DynamX is the only metallic device designed to support the vessel during the healing phase, after which it unlocks the vessel. The system also provides essential dynamic support to restore vessel function and maintain an open lumen. The unique design and mechanism of action make bioadaptor a promising therapy in BTK revascularisation, said the medical device maker. DynamX Bioadaptor provides high acute lumen gain in the coronary vessels and maintains the gain over time, which is a common challenge in existing BTK therapies. The bioadaptor also restores vessel motion and function, including positive adaptive remodelling, vessel pulsatility, improved vessel dynamic compliance, and enhanced blood flow.

The DynamX BTK System for the treatment of BTK vessels impacted by CLTI broadens the use of the novel bioadaptor platform technology beyond the treatment of coronary artery disease MILPITAS, Calif.--(BUSINESS WIRE)-- Elixir Medical a developer of disruptive technologies to treat cardiovascular and peripheral disease, today announced it has been granted Breakthrough Device Designation by the U.S. Food and Drug Administration (FDA) for its DynamX® BTK System, a novel, adaptive implant for use in the treatment of narrowed or blocked vessels below-the-knee (BTK) in patients with chronic limb-threatening ischemia (CLTI). The DynamX Bioadaptor platform is a medical technology designed to establish the new standard of care for vascular interventions. It is the only metallic device designed to support the vessel during the healing phase, after which it unlocks and “uncages” the vessel while providing the essential dynamic support, to restore vessel function and maintain an open lumen. Peripheral arterial disease (PAD) affects more than 200 million people worldwide.1,2 Its most severe form is CLTI, which represents an advanced stage of PAD with risk to both life and limb, and one-year estimates of mortality over 20% across a range of observational studies.3 Without revascularization, CLTI results in major amputation in a large number of patients.5,6,7 Because of its unique design and mechanism of action, the bioadaptor is a promising therapy in BTK revascularization. The DynamX Bioadaptor has been shown to provide high acute lumen gain in the coronary vessels and maintain such gain over time, which is a common challenge in existing BTK therapies. The bioadaptor has also been shown to restore vessel motion and function, including positive adaptive remodeling, vessel pulsatility, improved vessel dynamic compliance, and an increase in blood flow volume. "The Bioadaptor platform was developed to transform treatment of coronary and peripheral artery disease,” said Motasim Sirhan, CEO at Elixir Medical. “We appreciate the FDA recognition of our innovation for treating the CLTI population with BTK disease and its potential impact on the patients suffering from vascular disease.” The FDA Breakthrough Device Designation accelerates the review process for novel technologies designed to address an unmet medical need. Devices that receive breakthrough designation must meet rigorous standards for device safety and effectiveness in order to be authorized for marketing. About DynamX Bioadaptor Technology DynamX Bioadaptor is the first implant technology designed to unlock the device, uncage the vessel, and restore and sustain normal vessel motion and function after PCI or BTK intervention by maintaining dynamic support of the diseased vessel after its uncaging. With this unique mechanism of action (MOA), it is designed to establish a new standard of care for vascular intervention. The DynamX BTK System is not available for sale in the U.S. About Elixir Medical Elixir Medical Corporation, a privately-held company based in Milpitas, California, develops disruptive platforms to treat coronary and peripheral artery disease. Our technologies have multiple applications across the cardiovascular space capable of delivering improved clinical outcomes for millions of patients. Visit us at and on LinkedIn. References: Sampson UK, Fowkes FG, McDermott MM, Criqui MH, Aboyans V, Norman PE, et al. Global and regional burden of death and disability from peripheral artery disease: 21 world regions, 1990 to 2010. Glob Heart. 2014;9(1):145-158 e121. Fowkes FG, Rudan D, Rudan I, Aboyans V, Denenberg JO, McDermott MM, et al. Comparison of global estimates of prevalence and risk factors for peripheral artery disease in 2000 and 2010: a systematic review and analysis. Lancet. 2013;382(9901):1329-1340. Abu Dabrh AM, Steffen MW, Undavalli C, Asi N, Wang Z, Elamin MB, Conte MS and Murad MH. The natural history of untreated severe or critical limb ischemia. J Vasc Surg. 2015;62:1642-51 e3. Conte MS, Bradbury AW, Kolh P, White JV, Dick F, Fitridge R, et al. Global vascular guidelines on the management of chronic limb-threatening ischemia. J Vasc Surg. 2019;69(6S):3S-125S e140. Rueda CA, Nehler MR, Perry DJ, McLafferty RB, Casserly IP, Hiatt WR, et al. Patterns of artery disease in 450 patients undergoing revascularization for critical limb ischemia: implications for clinical trial design. J Vasc Surg. 2008;47(5):995-999; discussion 999-1000. Abu Dabrh AM, Steffen MW, Undavalli C, Asi N, Wang Z, Elamin MB, et al. The natural history of untreated severe or critical limb ischemia. J Vasc Surg. 2015;62(6):1642-1651 e1643.