Protein Deficiency

– Helps to detect circulating tumor DNA (ctDNA) as a biomarker in clinical research and clinical trials for solid tumor malignancies – – May provide real-time data on therapy response, support patient prognostic stratification and enable early detection of residual disease – SAN FRANCISCO, Nov. 6, 2023 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, today announced enhanced chemistry of its Invitae Personalized Cancer Monitoring™ platform that helps detect circulating tumor DNA (ctDNA) as a biomarker for solid tumor malignancies. ctDNA can provide real-time insights on patient response or disease progression, support patient prognostic stratification and enable early detection of residual disease. The enhanced assay, which received Clinical Laboratory Improvement Amendments (CLIA) approval, features a flexible patient-specific panel design of between 18 and 50 variants, demonstrating a sensitivity of >99% for detecting ctDNA at variant allele frequencies as low as 0.005%. In addition, the company has also received CLIA approval on the whole exome sequencing component of PCM as a stand-alone comprehensive genomic profiling (CGP) assay to permit reporting of tumor profiles. In our commitment to continual innovation, the enhanced assay achieves a number of benefits. Compared to our prior version, the enhanced assay permits a new lower mass input limit that results in the same sensitivity as the prior version with less cell-free DNA (cfDNA), enabling Invitae to test samples that might have been previously rejected. The enhanced assay also involves fewer steps that will increase capacity and reduce the burden of materials and labor costs. Lastly, the enhanced chemistry is automation friendly enabling scale and supporting future growth. "This focused launch and enhanced chemistry will enable biopharma partners to detect recurring disease early," said Bob Daber, Ph.D., chief scientific officer of Invitae. "This will potentially help set MRD as a standard practice in clinical studies and increase the velocity of drug development. Our vision is that insights gained from Invitae Personalized Cancer Monitoring will lead to research breakthroughs that positively influence patient journeys." "With Invitae Personalized Cancer Monitoring, biopharma researchers will have information they need to inform clinical trial design and study patient outcomes, ultimately to help bring new cancer therapies that benefit patients to market," added Dr. Daber. To learn about Invitae Personalized Cancer Monitoring, please contact [email protected]. About Invitae Personalized Cancer Monitoring™ Invitae Personalized Cancer Monitoring is a multi-cancer, tumor-informed, long-term monitoring assay that incorporates next-generation sequencing libraries featuring both unique molecular identifiers (UMIs) and updated anchored multiplex PCR (AMP) chemistry. Invitae Personalized Cancer Monitoring provides personalized ctDNA detection and quantitation from the peripheral blood in patients with solid tumors. Biopharma researchers can utilize the validated Invitae Personalized Cancer Monitoring platform to detect residual cancer at the molecular level. By assessing the presence and levels of ctDNA over time, Invitae Personalized Cancer Monitoring provides a highly sensitive approach to detect residual cancer in patients who have undergone surgery and other definitive therapies, thus informing further diagnostic and therapeutic decisions, leading to potentially improved outcomes. The assay can also provide molecular information on the extent of response to therapeutic interventions, in various clinical settings, which may assist in optimizing clinical studies and accelerating drug development. Currently established clinical practice involves utilizing imaging as a means to detect residual disease and tumor changes, which might result in delayed detection of disease recurrence and inaccurate assessment of therapeutic response. Biopharma researchers need a faster and more reliable way to understand therapeutic responses to novel drug regimens. The Invitae Personalized Cancer Monitoring assay may provide such information. For example, in a study of non-small cell lung cancer, a ctDNA assay based on the Invitae Personalized Cancer Monitoring platform detected relapse prior to standard clinical diagnosis via imaging by almost four months. About Invitae Invitae (NYSE: NVTA) is a leading medical genetics company trusted by millions of patients and their providers to deliver timely genetic information using digital technology. We aim to provide accurate and actionable answers to strengthen medical decision-making for individuals and their families. Invitae's genetics experts apply a rigorous approach to data and research, serving as the foundation of their mission to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. To learn more, visit invitae.com and follow for updates on Twitter, Instagram, Facebook and LinkedIn @Invitae. Safe Harbor Statement This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the potential benefits of the enhanced chemistry of the Invitae Personalized Cancer MonitoringTM test; that the company's focused launch and enhanced chemistry will enable biopharma partners to detect recurring disease early, potentially help set MRD as a standard practice in clinical studies and increase the velocity of drug development; and the company's vision that insights gained from its test will lead to research breakthroughs that positively influence patient journeys. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's ability to grow its business in a cost-efficient manner; the company's history of losses; the company's ability to maintain important customer relationships; the company's ability to compete; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the applicability of clinical results to actual outcomes; risks associated with litigation; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2023. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements. Invitae PR contact: Renee Kelley [email protected] SOURCE Invitae Corporation

Phase 1/2a clinical trial will evaluate the safety and efficacy of administering AGLE-102™ to treat severe second-degree burns AGLE-102™ is being developed for the treatment of severe dermatological and immune based disorders WOBURN, Mass., Aug. 16, 2023 /PRNewswire/ -- Aegle Therapeutics Corp., a clinical-stage biotechnology company developing novel extracellular vesicle ("EV") therapies to address rare and serious diseases, today announced the first patient has been dosed in the Phase 1/2a clinical trial of AGLE-102™ for the treatment of severe second-degree burns. AGLE-102 is an investigational product comprised of native extracellular vesicles isolated from allogeneic stem cells using Aegle's proprietary and patented methods. The product is a composite of cell-derived nanoparticles that contain active biomolecules including proteins and nucleic acids with tissue regeneration, immunomodulation, and anti-inflammation properties. The phase I/2a trial, "A Pilot Safety Study of Mesenchymal Stem Cell Derived Extracellular Vesicles for the Treatment of Burn Wounds," is a prospective, non-randomized, single arm multi-center study designed to evaluate the safety and efficacy of applying multiple administrations of AGLE-102 to deep second-degree burns. The program is being advanced for the discovery and development of allogeneic stem cell derived extracellular vesicle therapy that could offer patients accelerated healing, regenerative healing (with minimal/no scarring) and prevention of wound conversion. More information on the phase 1/2a study (NCT05078385) is available at clinicaltrials.gov. "We are pleased to initiate this first-in-human trial of AGLE-102," said Shelley Hartman, Aegle's Chief Executive Officer. "This milestone highlights our commitment to advancing extracellular therapy as an important multi-faceted approach to treating severe dermatological and immune based conditions." About AGLE-102™ AGLE-102 is an investigational product comprised of native extracellular vesicles isolated from allogeneic stem cells. The product is a composite of cell-derived nanoparticles that contain active biomolecules including proteins and nucleic acids with tissue regeneration, immunomodulation, and anti-inflammation properties. Aegle is currently enrolling patients in a phase 1/2a study using AGLE-102 to prevent wound progression and scarring in severe second-degree burns and anticipates the launch of a phase 1/2a study in Q4 2023 for the treatment of epidermolysis bullosa. AGLE-102 is also in a preclinical program for GvHD. About Aegle Therapeutics Corp. Aegle Therapeutics Corp. is a clinical-stage biotechnology company developing novel extracellular vesicle ("EV") therapies to address rare and serious diseases and disorders with significant unmet medical needs. Aegle's proprietary platform technology safely isolates native extracellular vesicles ("EVs") from stem cells. These EVs carry complex assemblies of biologic molecules such as proteins and nucleic acids that can induce a wide variety of effects in recipient cells, including the promotion of regenerative healing, while reducing inflammation and modulating the immune system. Aegle's EV therapy has the potential to treat a broad range of indications in multiple therapeutic areas, including dermatology, immunology-based diseases, protein deficient disorders and others. For more information about Aegle Therapeutics, please visit . Aegle Therapeutics Investor Contact: Investor Relations [email protected] SOURCE Aegle Therapeutics Corporation

Recent Pentech Health acquisition of ZOIA Pharma broadens distribution and access for patients to PKU GOLIKE® GENEVA, SWITZERLAND / ACCESSWIRE / July 19, 2023 / RELIEF THERAPEUTICS Holding SA (SIX:RLF)(OTCQB:RLFTF)(OTCQB:RLFTY) (Relief Therapeutics, or the Company), a biopharmaceutical company committed to delivering innovative treatment options with the potential for transformative outcomes to benefit those suffering from select specialty and rare diseases, today announced an extension of its exclusive, long-term agreement with Pentec Health, Inc. (Pentec Health), broadening the distribution of PKU GOLIKE® in the U.S. Pentec Health is a leading provider of healthcare services for complex care challenges, including clinical nutrition and specialty care, and the exclusive distributor of PKU GOLIKE® in the U.S. "Following the announcement of Pentec Health's acquisition of ZOIA Pharma, we are excited to expand and deepen our partnership with Pentec Health to continue to provide our innovative PKU GOLIKE® family of products to the PKU community," said Jack Weinstein, chief executive officer of Relief Therapeutics. "As the first prolonged-release, taste- and odor-masked medical food, PKU GOLIKE® offers the potential for better metabolic management and improved compliance for patients who must contend with the lifelong dietary restrictions associated with this debilitating and rare condition." The acquisition of ZOIA Pharma by Pentec Health provides patients living with PKU who purchase products through ZOIA Pharma access to PKU GOLIKE®. This enables Relief Therapeutics to broaden distribution of PKU GOLIKE® across an expanded commercial payor base, ensuring more patients living with PKU will have access to the PKU GOLIKE® family of products to help them manage their condition. "Working together, Pentec Health, ZOIA Pharma and Relief Therapeutics are helping to solve problems in the rare disease world to improve the health of people with these conditions," said Matthew Deans, president and chief executive officer of Pentec Health. "We are an extension of the family's care team and the combination of ZOIA's expertise in medical foods and Pentec's ability to support expanded coverage across Medicaid, increases availability, which is vital for patient access and adherence." According to the National PKU Alliance, there are approximately 16,500 people living with phenylketonuria (PKU) in the U.S. People living with PKU do not have the ability to metabolize phenylalanine (Phe), which is found in many foods, and therefore require supplementation of amino acid-based medical foods to prevent protein deficiency and optimize metabolic control. "The combined forces of Pentec Health and Zoia Pharma is one of the most consequential developments in the past decade for the distribution of medical foods," said Chris Wick, U.S. country lead of Relief Therapeutics. "The expanded reach and capabilities will enable us to serve more patients in the PKU community with PKU GOLIKE® for years to come." ABOUT PHENYLKETONURIA (PKU) Phenylketonuria (PKU) is caused by a defect of the enzyme needed to break down phenylalanine (Phe), leading to a toxic buildup of Phe from the consumption of foods containing protein or aspartame. Untreated PKU can result in global developmental delay or severe irreversible intellectual disability, as well as growth failure, hypopigmentation, motor deficits, ataxia and seizures.1 Living with PKU requires a limited diet and very careful management. If left unmanaged, PKU can lead to devastating consequences, such as brain damage. People living with PKU do not have the ability to metabolize Phe, which is found in many foods, and they require supplementation of amino acid-based foods for special medical purposes (FSMPs) to prevent protein deficiency and optimize metabolic control. Currently available FSMPs may lead to poor or suboptimal clinical outcomes and compliance because they are rapidly absorbed and are characterized by an unpleasant odor and aftertaste. Such factors contribute to barriers to social interaction for PKU patients, further limiting FSMP compliance and exposing patients to the risks of poor disease control.2 ABOUT PKU GOLIKE® PKU GOLIKE® products are foods for special medical purposes (FSMPs) for the dietary management of PKU in both children and adults. Developed with the Relief Therapeutics proprietary, patent-protected Physiomimic Technology™ drug delivery platform, PKU GOLIKE® products are the first prolonged-release amino acid FSMPs, characterized by a special coating that ensures physiological absorption of the amino acids mirroring that of natural proteins. The special coating also masks the unpleasant taste, odor and aftertaste of the amino acids. PKU GOLIKE® granules are flavorless and can be mixed with many foods. PKU GOLIKE® products contain all 19 amino acids that people with PKU need to maintain neurological and muscular health and is fortified with 27 essential vitamins and minerals, including ones normally found in protein-rich foods like iron, calcium and vitamin B12. The PKU GOLIKE® line of products are available in convenient packets (PKU GOLIKE Plus® 3-16 and 16+) and medical food bars (PKU GOLIKE BAR®). PKU GOLIKE® products have been commercially available in the U.S. since October 2022. For more information, please visit (Please note this site is intended for U.S. audiences only). ABOUT PENTEC HEALTH INC. Pentec Health Inc. is committed to solving and simplifying complex care challenges to better meet patient and provider needs. Pentec's unique solutions, based on empathy, technical expertise, and clinical collaboration, deliver exceptional results through proven delivery models that reduce administrative burdens and improve outcomes through trusted, long-term relationships. Pentec Health serves more than 11,000 patients living with complex medical conditions, with care provided across the nation by more than 350 clinicians. To learn more, visit ABOUT RELIEF THERAPEUTICS Relief Therapeutics is a commercial-stage biopharmaceutical company committed to advancing treatment paradigms and delivering improvements in efficacy, safety and convenience to benefit the lives of patients living with select specialty and rare diseases. Relief Therapeutics' portfolio offers a balanced mix of marketed, revenue-generating products, our proprietary, globally patented Physiomimic™ and TEHCLO™ drug delivery platform technologies and a highly targeted clinical development pipeline consisting of risk-mitigated assets focused in three core therapeutic areas: rare metabolic disorders, rare skin diseases and rare respiratory diseases. In addition, Relief Therapeutics is commercializing several legacy products via licensing and distribution partners. Relief Therapeutics' mission is to provide therapeutic relief to those suffering from rare diseases and is being advanced by an international team of well-established, experienced biopharma industry leaders with extensive research, development and rare disease expertise. Relief Therapeutics is headquartered in Geneva, with additional offices in Balerna, Switzerland, Offenbach am Main, Germany and Monza, Italy. Relief Therapeutics is listed on the SIX Swiss Exchange under the symbol RLF and quoted in the U.S. on OTCQB under the symbols RLFTF and RLFTY. For more information, please visit our website or follow Relief Therapeutics on LinkedIn and Twitter. RELIEF THERAPEUTICS HOLDING SA Catherine Day Vice President, Investor Relations & Communications contact@relieftherapeutics.com DISCLAIMER This press release contains forward-looking statements. Forward-looking statements involve known and unknown risks, uncertainties, and other factors, which could cause the actual results, financial condition, performance, or achievements of Relief Therapeutics to be materially different from any future results, performance or achievements expressed or implied by such forward-looking statements. Several factors, including those described in Relief Therapeutics' filings with the SIX Swiss Exchange and the U.S. Securities and Exchange Commission (SEC), could adversely affect Relief Therapeutics. Copies of Relief Therapeutics' filings with the SEC are available on the SEC EDGAR database at Relief Therapeutics does not undertake any obligation to update the information contained herein, which speaks only as of this date. REFERENCES 1Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. PMID: 20971365. 2Ford, Suzanne et al. "Living with Phenylketonuria: Lessons from the PKU community." Molecular genetics and metabolism reports. Vol. 17 57-63. 18 Oct. 2018, doi:10.1016/j.ymgmr.2018.10.002. SOURCE: Relief Therapeutics Holdings AG View source version on accesswire.com: