LMNA

[18-January-2024] Clinical trial data demonstrated Zokinvy treatment extended life by an average of 4.3 years in children and young adults with Hutchinson-Gilford progeria Eiger to receive $500,000 approval milestone payment from AnGes Zokinvy approved in the U.S. (2020), 30 European countries (2022), and now Japan (2024) PALO ALTO, Calif., Jan. 18, 2024 /PRNewswire/ -- Eiger BioPharmaceuticals, Inc, (Nasdaq:EIGR), a commercial-stage biopharmaceutical company focused on the development of innovative therapies for rare metabolic diseases, today announced that it and its partner AnGes, Inc. received marketing approval from the Ministry of Health, Labour and Welfare for Zokinvy (lonafarnib), a treatment for Hutchinson-Gilford progeria syndrome (HGPS) and processing deficient progeroid laminopathy (PDPL). "We and our partner, AnGes, are pleased that Zokinvy is now approved in Japan for patients living with progeria, an ultra-rare and fatal pediatric disease that can result in premature death," said David Apelian, MD, PhD, MBA, CEO of Eiger. "We would like to thank the Progeria Research Foundation for their continued support of the regulatory submission as well as the patients and their families." Collectively known as progeria, HGPS and PL are devastating ultra-rare and fatal pediatric diseases that cause dramatically accelerated aging and premature death. The main cause of death is heart attack or stroke due to severe hardening of the arteries.3,4 The approval was based on the positive results of two pivotal clinical trials demonstrating that Zokinvy, an oral disease-modifying agent which targets the cause of progeria, lowered the risk of death in children by 72% and extended life by an average of 4.3 years (p<0.0001) in children and young adults with HGPS.2 About Progeria Collectively known as progeria, Hutchinson-Gilford progeria syndrome and progeroid laminopathies are ultra-rare, fatal, genetic premature aging diseases that accelerate mortality in young patients. HGPS is caused by a point mutation in the LMNA gene, yielding the farnesylated aberrant protein, progerin. Progeroid laminopathies are genetic conditions of accelerated aging caused by a constellation of mutations in the LMNA and/or ZMPSTE24 genes yielding farnesylated proteins that are distinct from progerin.4,5 Without Zokinvy therapy, children with HGPS commonly die of the same heart disease that affects millions of normally aging adults (arteriosclerosis), by an average age of 14.5 years. Disease manifestations include severe failure to thrive, scleroderma–like skin, global lipodystrophy, alopecia, joint contractures, skeletal dysplasia, global accelerated atherosclerosis with cardiovascular decline, and debilitating strokes.3 About Zokinvy® (lonafarnib) Zokinvy is a first-in-class disease-modifying agent that blocks the accumulation of defective progerin and progerin-like proteins which leads to cellular instability and premature aging in children and young adults with progeria. Zokinvy has demonstrated a statistically significant survival benefit in children and young adults with HGPS.1,4 The most commonly reported adverse reactions were gastrointestinal (vomiting, diarrhea, nausea), and most were mild or moderate (Grade 1 or 2) in severity. Many progeria patients have received continuous Zokinvy therapy for more than 10 years.1,2 Zokinvy is FDA approved for the treatment of patients 12 months of age and older with a genetically confirmed diagnosis of Hutchinson-Gilford progeria syndrome or a processing-deficient progeroid laminopathy associated with either a heterozygous LMNA mutation with progerin-like protein accumulation or a homozygous or compound heterozygous ZMPSTE24 mutation. For Important Safety Information and prescribing information for Zokinvy in the U.S., please visit Eiger and AnGes entered into an exclusive distribution agreement for the treatment of HGPS and PDPL indications, Zokinvy (Lonafarnib), in Japan on May 10, 2022. In March 2023, the Ministry of Health, Labour and Welfare designated Zokinvy as an orphan drug. About Eiger Eiger is a commercial-stage biopharmaceutical company focused on the development of innovative therapies for rare metabolic diseases. Eiger's lead product candidate, avexitide, is a well characterized, first-in-class GLP-1 antagonist for the treatment of post-bariatric hypoglycemia (PBH) and congenital hyperinsulinism (HI). Avexitide is the only drug in development for PBH with Breakthrough Therapy designation from the FDA. For additional information about Eiger and its clinical programs, please visit . Note Regarding Forward-Looking Statements This press release contains forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. All statements other than statements of historical facts, including statements regarding our future financial condition, timing for and outcomes of clinical results, prospective products, preclinical and clinical pipelines, regulatory objectives, business strategy and plans and objectives for future operations, are forward-looking statements. Forward-looking statements are our current statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the timing of our ongoing and planned clinical development; our capability to provide sufficient quantities of any of our products or product candidates for studies or to meet anticipated full-scale commercial demands; our ability to identify, pursue and enter into partnering opportunities for our virology assets; the sufficiency of our cash, cash equivalents and investments to fund our operations into the fourth quarter of 2024, including the scope and impact of any savings from our workforce reduction and cash conservation efforts; the revenue potential of avexitide in post-bariatric hypoglycemia and congenital hyperinsulinism; our ability to finance, independently or through collaborations, the continued advancement of our development pipeline; and the potential for success of any of our products or product candidates. Various important factors could cause actual results or events to differ materially from the forward-looking statements that Eiger makes, including additional applicable risks and uncertainties described in the "Risk Factors" section in Eiger's Quarterly Report on Form 10-Q for the quarter ended September 30, 2023 and Eiger's subsequent filings with the SEC. The forward-looking statements contained in this press release are based on information currently available to Eiger and speak only as of the date on which they are made. Eiger does not undertake and specifically disclaims any obligation to update any forward-looking statements, whether as a result of any new information, future events, changed circumstances or otherwise. Investors: Sylvia Wheeler Wheelhouse Life Science Advisors swheeler@wheelhouselsa.com Media: Aljanae Reynolds Wheelhouse Life Science Advisors areynolds@wheelhouselsa.com References: 1. Data on file, Eiger BioPharmaceuticals. 2. Summary of Product Characteristics, July 2022. 3. Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2019 Jan 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 4. Gordon LB, Shappell H, Massaro J, et al. Association of lonafarnib treatment vs no treatment with mortality rate in patients with Hutchinson-Gilford progeria syndrome. JAMA. 2018;319(16):1687-1695. doi:10.1001/jama.2018.3264. 5. Marcelot A, Worman HJ, and Zinn-Justin S. Protein structural and mechanistic basis of progeroid laminopathies. FEBS Journal. 2021:288:2757-2772. Doi:10.111/febs.15526. Company Codes: NASDAQ-NMS:EIGR

- Heart of Genetic Counseling Award recognizing excellence in patient care will be presented by Invitae and NSGC - SAN FRANCISCO, Nov. 10, 2022 /PRNewswire/ -- Researchers from Invitae (NYSE: NVTA), a leading medical genetics company, are presenting research next week at the National Society of Genetic Counselors (NSGC) 41st Annual Conference in Nashville enabling the progress of the science and practice of genetics in patient care. In addition to its research presentations, the company will present the Heart of Genetic Counseling Award, which recognizes excellence in the field of genetic counseling. The company's research presentations, which include a pre-conference symposium, opening plenary, sponsored session and poster presentations, add to both the science and practice of the fast-growing field of medical genetics. Among the company's poster presentations is a retrospective case-control study aimed to assess the cancer risk for individuals who have a monoallelic MUTYH pathogenic/likely pathogenic variant. In addition, Invitae will present a study highlighting how RNA sequencing can help classify variants predicted to alter RNA splicing, as well as uncovering splice-altering variants in regions outside of the standard reportable range of targeted DNA panels. "The NSGC annual meeting is a great opportunity for Invitae to show our continued commitment to genetic counselors and their patients as well as furthering the science behind genetic testing," said Robert Nussbaum, M.D., chief medical officer at Invitae. "Working with genetic counselors, we continue to champion affordability, accessibility and innovation – so that we can find answers for more patients, together." Heart of Genetic Counseling Award In addition to the research presentations at the meeting, Invitae and NSGC will present the 2022 Heart of Genetic Counseling Award in a ceremony at the NSGC Annual Conference. The Heart of Genetic Counseling Award was established to honor excellence in genetic counseling patient care as recognized by patients themselves. Nominations include stories from patients that highlight both the clinical and personal impact a genetic counselor had on their lives and the lives of their families. The finalists include: Monisha Sebastin, MS, CGC, Children's Hospital at Montefiore Medical Center, The Bronx, New York, was nominated by a parent whose daughter has fanconi anemia (FA), a rare genetic disease that affects the bone marrow. When the daughter was diagnosed with COVID, Sebastin went above and beyond to get her treatment by arranging for her infusions within a few hours which was critical given the daughter's pulmonary issues and compromised immune system. Victoria Vincent, MS, CGC, University of South Carolina, Columbia, South Carolina, showed true compassion for a patient who lost several children due to surfactant protein-B (SP-B) deficiency, a rare lung disorder that causes most babies to die within the first few weeks of life. Vincent provided the patient with emotional support during her losses and, after many years, celebrated with the patient when they discovered that her son and his fiancée did not carry the SP-B mutation. Julianne Wojciak, MS, LGC, University of California, San Francisco, California, counseled a patient during her testing for the LMNA genetic mutation, which can cause cardiac arrest or heart failure. Due to the diagnosis, the patient received an internal cardiac monitor, which detected pauses in her heart activity that saved her life. Wojciak also supported the patient through the process of testing her children for the LMNA mutation. The Heart of Genetic Counseling Award will be presented on Thursday, November 17. Full presentation schedule The full schedule of the Invitae presentations at the conference is as follows: Wednesday, November 16 Pre-conference symposium. REAssessing the Use of Race, Ethnicity, Ancestry (REA) Information in Genomic Medicine. | Presented by: Robert Nussbaum, M.D., Invitae. | 12 - 5:30 p.m. CST Thursday, November 17 Opening Plenary. We're not in Kansas anymore, Toto! International Genetic Counselors' Experiences in the U.S. | Presented by: Rachel Mador, MS, CGC, Invitae. | 9:15 - 10 a.m. CST Heart of Genetic Counseling Award Presentation | Presented by: Invitae and NSGC. | 7:30 - 9:30 p.m. CST Friday, November 18 Industry sponsored session. How clinical experts and artificial intelligence work together in an effort to improve genetic testing results. | Presented by: Molly Stetler, MS, CGC, and Sarah Klemm, MS, CGC, Invitae. | 12:30 - 1:45 p.m. CST Virtual, on demand for registered attendees Poster. Increased colorectal cancer risk among monoallelic MUTYH founder variant carriers tested at a commercial laboratory | Presented by: Brandie Heald Leach, MS, CGC, Invitae Poster. Combined DNA and RNA analysis of hereditary cancer associated genes: More answers for more patients | Presented by: Daniel Pineda, M.D., Invitae About Invitae Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time and lower prices. For more information, visit the company's website at invitae.com. 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 benefits and impact of the company's research and collaborations; the potential and importance of genetic testing and genetic counseling services; and the progress of the science and practice of genetics in patient care. 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 history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; 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 September 30, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements. Contact: Amanda McQuery [email protected] (628) 213-3283 SOURCE Invitae Corporation

SINGAPORE, Oct. 28, 2022 /PRNewswire/ -- Nuevocor, a pre-clinical stage cardiac gene therapy company, announced today that it will present new preclinical data on its adeno-associated virus (AAV) gene therapy for LMNA dilated cardiomyopathy at the American Heart Association (AHA) Scientific Sessions meeting on 5 – 7 November, 2022. This follows its maiden presentation at the American Society of Gene and Cell Therapy (ASGCT) meeting earlier this year. Mutations in the LMNA gene, encoding lamin A/C, are thought to be the 2nd most frequent cause of familial dilated cardiomyopathy, affecting approximately 60,000 people in the US and EU alone. Being an autosomal dominant disease characterized by gain-of-function of the mutant lamin A/C protein, conventional gene replacement therapies would be ineffective for LMNA DCM. Nuevocor's unique strategy for treating LMNA DCM instead targets a disease modifier, using AAV to overexpress a transgene that disrupts the Linker of Nucleoskeleton and Cytoskeleton complex to suppress the pathology of LMNA mutations. Details of the presentation are as follows: Sunday, Nov 6, 2022 5 - 6pm, CT Room: S102A Session: HF.AOS.470 - Novel Therapeutics in Heart Failure Title: AAV Gene Therapy to Treat Underlying Cardiac Biomechanical Defects in Lmna Dilated Cardiomyopathy Improves Lifespan and Preserves Ejection Fraction in Lmna DCM Mouse Model Presenter: Hendrijke Werner, Principal Scientist, Nuevocor For more information on the conference, please visit the AHA Scientific Sessions 2022 website. About Nuevocor Nuevocor is a biotechnology company developing targeted gene therapies to restore heart function through a deep understanding of fundamental mechanisms underlying genetic cardiac diseases. Nuevocor is founded and advised by leaders in mechanobiology, cardiac disease and gene therapy. Its lead candidate treats the underlying biomechanical cause of LMNA dilated cardiomyopathy, while its PrOSIA mechanobiology platform enables target discovery and validation for additional genetic cardiomyopathies. SOURCE Nuevocor