Gyrate Atrophy

Stockholm, December 27, 2024 – Immedica is pleased to announce that its partner OrphanPacific, Inc has submitted an application to the Ministry of Health, Labour and Welfare in Japan for the approval of Ravicti® (glycerol phenylbutyrate) for the treatment of Urea Cycle Disorders (UCD). The submission follows the approval of the orphan drug designation of Ravicti on December 25. "This submission marks a significant step toward bringing this important treatment addition to patients with UCD in Japan. We are pleased to see this progress together with our partner OrphanPacific, as we continue our commitment to addressing unmet medical needs in rare diseases” says Anders Edvell, CEO of Immedica. An orphan drug designation is handled by the Ministry of Health, Labour and Welfare based on Article 77-2 of the Pharmaceuticals and Medical Devices Act. The designation is given to products that meet conditions such as having fewer than 50,000 patients in Japan and being particularly necessary from a medical standpoint, following an opinion of the Pharmaceutical Affairs and Food Sanitation Council. Orphan Pacific has been a valued partner to Immedica in Japan, holding exclusive rights to Buphenyl® (sodium phenylbutyrate). This collaboration was further strengthened in May 2022 through an exclusive license agreement, adding Ravicti to their portfolio for the Japanese market. About Urea Cycle Disorders (UCD) Urea cycle disorders are a group of metabolic diseases that affect a specific enzyme or transporter in the urea cycle leading to elevated ammonia or glutamine levels in the circulation. Symptoms of the disorder can begin at any age, where more severe defects are seen with an onset of the disease early in life. UCD patients may experience episodes, called hyperammonemic crises, when ammonia levels in the blood become excessively high, which can result in irreversible brain damage, coma, or death. Beyond hyperammonemic crises there are also more subtle symptoms including vomiting, refusal to feed, irritability, muscular hypotonia as well as delayed motor and psychointellectual development. As a group, these disorders occur in 1 in 35,000 newborns. About Ravicti® (glycerol phenylbutyrate) Ravicti is a medicine used to treat patients of all ages with UCDs, including deficiencies of carbamoyl phosphate synthetase I (CPS), ornithine carbamoyltransferase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase (ASL), arginase I (ARG) and ornithine translocase deficiency hyperornithinaemia-hyperammonaemia homocitrullinuria syndrome (HHH) who cannot be managed by dietary protein restriction and/or amino acid supplementation alone. Ravicti must be used with dietary protein restriction and, in some cases, dietary supplements (e.g., essential amino acids, arginine, citrulline, protein-free calorie supplements). The medicine is used to reduce the amount of ammonia in the blood in order to reduce the risk of neurological consequences. About OrphanPacific OrphanPacific is a Japanese pharmaceutical company dedicated to developing, manufacturing, and marketing treatments for rare diseases. Our mission is to "bring smiles and happiness to patients with rare diseases and their families." With a commitment to "Leave No One Behind," we actively engage in the development and provision of treatments for rare diseases with very few patients. https://www.orphanpacific.com/ About Immedica Immedica is a pharmaceutical company, headquartered in Stockholm, Sweden, focused on the commercialization of medicines for rare diseases and specialty care products. Immedica’s capabilities cover marketing and sales, compliance, pharmacovigilance, quality assurance, regulatory, medical affairs and market access, as well as a global distribution network serving patients in more than 50 countries. Immedica is fully dedicated to helping those living with diseases which have a large unmet medical need. Immedica’s therapeutic areas are within genetic & metabolic diseases, hematology & oncology and specialty care. Immedica was founded in 2018 and employs today around 130 people across Europe, the Middle East and the U.S. The main owners are the investment firms KKR and Impilo. For more information visit www.immedica.com Immedica contact: Linda Holmström Head of Communication linda.holmstrom@immedica.com + 46 708 73 40 95 Press release - Application to the Ministry of Health in Japan for Ravicti® (Glycerol Phenylbutyrate) submitted Follow us to stay up to date with what is happening at Immedica. We believe we have an important role to fill in society – bringing new, innovative treatments to patients with rare diseases. Focus areas are within genetic & metabolic diseases, hematology & oncology and specialty care. We operate products from phase 2 and all the way to mature products. ESG is an integrated part of our business model. Stay up to date with our latest news. Telephone: +46 (0) 8 533 39 500 E-mail: info@immedica.com

Gyrate atrophy is an inherited retinal disease — causing progressive vision loss. GYROS results will help researchers design clinical trials for an emerging gyrate atrophy gene therapy. COLUMBIA, Md. , Feb. 6, 2024 /PRNewswire/ -- `The Foundation Fighting Blindness, the world's leading organization committed to finding treatments and cures for inherited retinal diseases and dry age-related macular degeneration, is launching a natural history study for people with gyrate atrophy, a rare, vision-robbing inherited retinal disease. The lead investigators for the study are Mandeep S. Singh, MD, PhD, the Andreas C. Dracopoulos Professor of Ophthalmology and Associate Professor of Ophthalmology and Genetic Medicine at the Wilmer Eye Institute and David Valle, MD, Professor of Genetic Medicine and former director of the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University. Drs. Singh and Valle are developing a systemically delivered gene therapy for gyrate atrophy in collaboration with Jefferson Doyle, MD, PhD, MHS, the Dracopoulos- Finkelstein Rising Professor of Ophthalmology and Assistant Professor of Ophthalmology and Genetic Medicine at the Wilmer Eye Institute. The Jaeb Center for Health Research is the study sponsor and coordinating center for this study. Known as the Gyrate Atrophy Ocular and Systemic Study (GYROS), the $3.5 million study is informing the design of future clinical trials for gyrate atrophy. Several imaging and visual function tests will be performed during the study to better understand how the condition affects the retina and the rate of disease progression. GYROS will help clinical researchers identify outcome measures and participants for clinical trials of emerging therapies. GYROS will follow forty-five (45) participants with gyrate atrophy for four (4) years across twelve (12) clinical research sites from the Foundation's Clinical Consortium. GYROS is being funded through a collaborative effort involving three (3) groups. The Foundation is providing $1.8 million in funding for GYROS. The study is also supported by the Food and Drug Administration (FDA) of the U.S. Department of Health and Human Services (HHS) as part of a financial assistance award totaling $1.6 million. Conquering Gyrate Atrophy, a nonprofit research and advocacy organization, is contributing $100,000 to GYROS. Gyrate atrophy is a progressive retinal disease that causes night blindness and loss of peripheral vision, in addition to severe childhood-onset myopia. The condition, caused by mutations in the ornithine aminotransferase (OAT) gene, is inherited in an autosomal recessive pattern. People with gyrate atrophy are unable to metabolize the amino acid ornithine (produced from its precursor, arginine) and ornithine accumulates in their plasma and tissues. Some individuals with gyrate atrophy follow an arginine-restricted (low-natural protein) diet, prescribed only by a doctor, to reduce arginine intake and slow the progression of retinal degeneration. The diet, however, is highly restrictive and difficult to follow. A gene therapy approach could help to avoid the need for restrictive dietary control and lead to better vision outcomes over the long term. "We are excited to lead a world-class collaboration that's enabling the research community to better understand how gyrate atrophy affects the retina and vision in patients," says Todd Durham, PhD, senior vice president, clinical & outcomes research, at the Foundation Fighting Blindness. "GYROS results will be essential to the design and launch of the planned gene therapy clinical trial, and ultimately, getting a vision-saving treatment out to the people who need it." Karabi Acharya, ScD, Founder Conquering Gyrate Atrophy added "This is a huge step towards finding a cure for gyrate atrophy and provides hope to patients and families." Additional information about GYROS, including a list of participating sites, is available on clinicaltrials.gov (NCT05312736). The study is open to enrollment. FDA/HHS Support The project is supported by the FDA of the U.S. Department of Health and Human Services as part of a financial assistance award totaling $1.6M (46%), as well as an additional $1.9M (54%) funded by non-government source(s). The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement by, FDA/HHS, or the U.S. Government. About the Foundation Fighting Blindness Established in 1971, the Foundation Fighting Blindness is the world's leading private funding source for retinal degenerative disease research. The Foundation has raised more than $915 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. Visit FightingBlindness.org for more information. Media Contact: Chris Adams Vice President, Marketing & Communications [email protected] 410-423-0585 SOURCE Foundation Fighting Blindness