Deafness, Autosomal Dominant 1

PHILADELPHIA, Jan. 23, 2024 /PRNewswire/ -- Children's Hospital of Philadelphia (CHOP) is proud to announce the initial results of an experimental gene therapy treatment of a patient with hereditary hearing loss in the United States. Findings to date indicate that the treatment was successful. While the gene involved is quite rare, the milestone represents a breakthrough in the treatment of patients around the world with hearing loss caused by dozens of different genetic mutations and marks another innovative move for gene and cell therapy in a new area of medicine. Continue Reading Children’s Hospital of Philadelphia Performs First in U.S. Gene Therapy Procedure to Treat Genetic Hearing Loss "Gene therapy for hearing loss is something that we physicians and scientists in the world of hearing loss have been working toward for over 20 years, and it is finally here," said John A. Germiller, MD, PhD, an attending surgeon and Director of Clinical Research in the Division of Otolaryngology at CHOP, and Associate Professor at Perelman School of Medicine at the University of Pennsylvania. "While the gene therapy we performed in our patient was to correct an abnormality in one, very rare gene, these studies may open the door for future use for some of the over 150 other genes that cause childhood hearing loss." An eleven-year-old born with otoferlin gene (OTOF)-mediated hearing loss was the first patient to receive this gene therapy in the study. On October 4, 2023, the patient underwent a surgical procedure at CHOP where the gene therapy was placed into the inner ear using a device called an endoscope that allows the eardrum to be partially lifted, allowing an investigational medical device to be transiently inserted into the "round window," a tiny entry point into the cochlea. A single, small dose of a gene therapy (AK-OTOF) containing copies of the normal OTOF gene was then delivered directly to the inner ear. This delivery method represents the first time a gene therapy has been used as a potential treatment for hereditary hearing loss in the United States. The patient was born profoundly deaf in both ears. Now, almost four months since receiving the investigational gene therapy in one ear, the patient's hearing has improved enough that he now has only mild to moderate hearing loss in the ear that was treated. The patient is literally hearing sound for the first time in his life. He can hear his father's voice, the sound of a car passing by and even the scissors clipping his hair. While hearing loss can be caused by a variety of factors, like illness, injury, aging, exposure to loud noises or malformations of the inner ear, it can also be caused by a variety of genetic mutations. To date, more than 150 different genes have been implicated in hearing loss, and about 1 in 500 newborns are affected by some form of genetic hearing loss. Gene therapy for children with OTOF-mediated hearing loss has been designed to restore hearing by delivering copies of normal OTOF genes into the inner ear. With normal OTOF genes, the sensory cells will be able to function so they can respond to sound and activate the auditory nerve to send impulses to the brain. Functioning OTOF genes are encased in a viral vector, a modified form of a non-disease-causing virus, which allows them to be delivered into cells of the cochlea in the inner ear. The vector solution is directly injected into the internal fluid of the cochlea during the procedure. CHOP is one of several clinical trial sites in the world participating in the AK-OTOF-101 clinical trial, sponsored by Akouos, Inc., a wholly owned subsidiary of Eli Lilly and Company. This research trial is being conducted in collaboration with the Clinical In Vivo Gene Therapy group at CHOP, a multidisciplinary team of experts committed to advancing transformative human therapies and building upon CHOP's legacy as a leader in breakthrough gene therapy. Dr. Germiller developed a cutting edge, minimally invasive, endoscopic round window surgical approach at CHOP 10 years ago for infants and toddlers undergoing a different diagnostic procedure on the cochlea's round window. The delivery approach that is used for this gene therapy procedure, developed by Akouos and enabled by an investigational delivery device being developed in parallel with the gene therapy, leverages this earlier work. "As more patients at different ages are treated with this gene therapy, researchers will learn more about the degree to which hearing is improved and whether that level of hearing can be sustained over many years," Germiller said. "What we have learned from following this patient's progress will help direct our efforts toward helping as many patients as we can." To learn more about this clinical trial, visit: . About Children's Hospital of Philadelphia: A non-profit, charitable organization, Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey, as well as the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia. In addition, its unique family-centered care and public service programs have brought Children's Hospital of Philadelphia recognition as a leading advocate for children and adolescents. For more information, visit . Contact: Natalie Solimeo Children's Hospital of Philadelphia (856) 261-8090 [email protected] SOURCE Children's Hospital of Philadelphia

SAN DIEGO--(BUSINESS WIRE)-- Genome Insight is set to unveil clinical research findings on the genetic foundation of rare diseases at the 2023 NORD Rare Disease & Orphan Products Breakthrough Summit (2023 NORD Breakthrough Summit) in Washington, DC. Genome Insight will present the results of a collaborative clinical study on Whole Genome Sequencing (WGS) in rare diseases, specifically focusing on sensorineural hearing loss (SNHL). With a WGS pipeline exclusively designed for rare diseases (‘RareVision’), Genome Insight has fostered its collaborations with global medical institutions. The initial presentation will spotlight the ‘Genetic foundation of SNHL’. Emphasizing the importance of SNHL’s early detection for effective treatment, Genome Insight participated in a joint research project on genetic variants in 394 hereditary hearing loss patients at Seoul National University Hospital. It was revealed that RareVision could successfully diagnose 23.6% of previously undiagnosed patients from conventional methods, showcasing its clinical efficacy. This comprehensive analysis identified additional genetic and clinical significances associated with SNHL, marking a significant advancement in diagnostic techniques for rare diseases. In the next presentation, Genome Insight will unveil their groundbreaking genetic findings of yet another rare disease WGS clinical study, involving the analysis of 300 challenging patients, in collaboration with Seoul Asan Medical Center. "We are thrilled to present our groundbreaking rare disease research at the esteemed 2023 NORD Breakthrough Summit," stated June-Young Koh, M.D./Ph.D. "Through our collaborative genetic research initiatives, Genome Insight, Inc. is well on its way to becoming the global leader with the most extensive database of rare disease genomes," added Dr. Koh. ABOUT GENOME INSIGHT, INC. Genome Insight, Inc. is a global team, with headquarters in San Diego, California. The company was brought to fruition by physicians with a common vision to deliver unparalleled bioinformatics that merges whole-genome and patient data to deliver first-in-class research and discovery, precision diagnostics and treatments. The company’s mission is to improve how patients are diagnosed and treated, by unlocking the full potential of personalized genomic data, in its entirety, through innovative bioinformatics and unparalleled whole-genome interpretation.

HG004 is a one-time, direct-to-RPE treatment of inherited retinal disease caused by mutations in the RPE65 gene ~10-fold lower vector doses in multiregion, multicenter HG00402 trial than other AAV2 gene therapy clinical trials HG004 was previously granted orphan drug designation (ODD) for RPE65-IRD on 31 March 2023 SHANGHAI and CLINTON N.J., Aug. 7, 2023 /PRNewswire/ -- HuidaGene Therapeutics (辉大基因，"HuidaGene"), a clinical-stage biotechnology company focused on developing CRISPR-based programmable genomic medicines, today announced the U.S. Food and Drug Administration (FDA) had granted Rare Pediatric Disease Designation (RPDD) to HG004 for the treatment of inherited retinal disease caused by RPE65 mutations (RPE65-IRDs). The FDA grants RPDD to incentive development of new treatments for serious or life-threatening diseases that primarily affect children ages 18 years or younger with fewer than 200,000 people affected in the U.S. The RPDD program allows for a sponsor who receives an approval to qualify for a priority review voucher (PRV) that can be deemed to receive an expedited six-month priority review for any subsequent marketing application or may be sold or transferred. PRVs have historically commanded prices in excess of $100 million USD with the highest price paid for a PRV was $350 million USD. For a large company launching a billion-dollar drug, the six-month acceleration in regulatory review can be of substantial economic value. Most recently, Sarepta Therapeutics sold a PRV for $102 million USD. "This Rare Pediatric Disease designation from the US FDA highlights the significant unmet medical need that HuidaGene is seeking to address with HG004 for RPE65-IRDs," said Alvin Luk, Ph.D., M.B.A., C.C.R.A., Co-founder and Chief Executive Officer of HuidaGene. "HG004 was granted both RPDD and orphan drug designation (ODD) by the US FDA in March, allowing tax credits for clinical development, exemptions for certain FDA application fees, 7-year of market exclusivity, and assistance in the drug development process. We look forward to advancing HG004 in the clinic and remain steadfast in our commitment to answering patients worldwide." "We are pleased to have received another significant regulatory feedback from the US FDA underscoring the dire need for a treatment option of this devastating inherited blindness," said Linyu Shi, Ph.D., Co-founder and Chief Scientific Officer of HuidaGene. "Data from our preclinical studies have shown that HG004 demonstrates significant superiority than AAV2-hRPE65 (LUXTURNA like) in the recovery of retinal function of the Rpe65-/- mice. We are committed to delivering transformative genetic medicines for rare genetic diseases globally." About Inherited Retinal Disease Caused by RPE65 Mutations Inherited retinal disease (IRD) is a group of rare blinding conditions caused by mutations in any 1 of more than 250 genes. Leber's congenital amaurosis (LCA), severe early childhood-onset retinal dystrophy (SECORD), early-onset severe retinal dystrophy (EOSRD), and retinitis pigmentosa (RP), which may all be grouped under the heading of inherited retinal disease caused by RPE65 mutations (RPE65-IRD), are considered to represent a phenotypic continuum of the same disease. The RPE65-IRD with a typical onset between birth and five years of age exhibits several common clinical findings, chiefly night blindness, progressive loss of visual fields, and loss of central vision. Given the often severe and early visual loss associated with RPE65-IRD, other areas of development, including speech, social skills, and behavior, may also be delayed. About HuidaGene -辉大基因 HuidaGene Therapeutics (辉大基因) is a global clinical-stage biotechnology company focusing on discovering, engineering, and developing CRISPR-based genetic medicine to rewrite the future of genomic medicine. Based in Shanghai and New Jersey, HuidaGene is committed to addressing patients' needs globally with various preclinical therapeutic programs covering ophthalmology, otology, myology, and neurology. We are currently advancing clinical programs in inherited retinal disease caused by RPE65 mutations and our preclinical pipeline, including programs in neovascular age-related macular degeneration, retinitis pigmentosa, hereditary hearing loss, Duchenne muscular dystrophy, and MECP2 duplication syndrome. Company's CRISPR-based therapeutics offer the potential to cure patients with life-threatening conditions by repairing the cause of their disease. HuidaGene is committed to transforming the future of genome-editing medicine. For more information, please visit or follow us on LinkedIn at