Latest news with #genetherapy
Associated Press
14-06-2025
- Business
- Associated Press
RCKT INVESTOR ALERT: Robbins Geller Rudman & Dowd Announces that Rocket Pharmaceuticals, Inc. Investors with Substantial Losses Have Opportunity to Lead Class Action Lawsuit
SAN DIEGO--(BUSINESS WIRE)--Jun 14, 2025-- The law firm of Robbins Geller Rudman & Dowd LLP announces that purchasers or acquirers of Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT) securities between February 27, 2025 and May 26, 2025, both dates inclusive (the 'Class Period'), have until August 11, 2025 to seek appointment as lead plaintiff of the Rocket Pharmaceuticals class action lawsuit. Captioned Ho v. Rocket Pharmaceuticals, Inc., No. 25-cv-10049 (D.N.J.), the Rocket Pharmaceuticals class action lawsuit charges Rocket Pharmaceuticals and one of Rocket Pharmaceuticals' top executives with violations of the Securities Exchange Act of 1934. If you suffered substantial losses and wish to serve as lead plaintiff of the Rocket Pharmaceuticals class action lawsuit, please provide your information here: You can also contact attorneysJ.C. SanchezorJennifer N. Caringalof Robbins Geller by calling 800/449-4900 or via e-mail at[email protected]. CASE ALLEGATIONS: Rocket Pharmaceuticals operates as a late-stage biotechnology company that focuses on developing gene therapies for rare and devastating diseases. The Rocket Pharmaceuticals class action lawsuit alleges that defendants provided investors with material information concerning Rocket Pharmaceuticals' Phase 2 pivotal trial of RP-A501 for the treatment of Danon disease while, at the same time, disseminating materially false and misleading statements and/or concealing material adverse facts concerning the true state of RP-A501's safety and clinical trial protocol; notably, that Rocket Pharmaceuticals knew Serious Adverse Events, including death of participants enrolled in the study, were a risk. In particular, Rocket Pharmaceuticals amended the trial's protocol to introduce a novel immunomodulatory agent to the pretreatment regimen without providing this critical update to shareholders, according to the complaint. The Rocket Pharmaceuticals class action lawsuit further alleges that on May 27, 2025, Rocket Pharmaceuticals announced that the U.S. Food and Drug Administration placed a clinical hold on the RP-A501 Phase 2 pivotal study after at least one patient suffered a Serious Adverse Event, ultimately, death, while enrolled in the study following a substantive amendment to the protocol that Rocket Pharmaceuticals failed to disclose to investors at the time management made the revision. On this news, the price of Rocket Pharmaceuticals stock fell, according to the complaint. THE LEAD PLAINTIFF PROCESS: The Private Securities Litigation Reform Act of 1995 permits any investor who purchased or acquired Rocket Pharmaceuticals securities during the Class Period to seek appointment as lead plaintiff in the Rocket Pharmaceuticals class action lawsuit. A lead plaintiff is generally the movant with the greatest financial interest in the relief sought by the putative class who is also typical and adequate of the putative class. A lead plaintiff acts on behalf of all other class members in directing the Rocket Pharmaceuticals class action lawsuit. The lead plaintiff can select a law firm of its choice to litigate the Rocket Pharmaceuticals class action lawsuit. An investor's ability to share in any potential future recovery is not dependent upon serving as lead plaintiff of the Rocket Pharmaceuticals class action lawsuit. ABOUT ROBBINS GELLER: Robbins Geller Rudman & Dowd LLP is one of the world's leading law firms representing investors in securities fraud and shareholder litigation. Our Firm has been ranked #1 in the ISS Securities Class Action Services rankings for four out of the last five years for securing the most monetary relief for investors. In 2024, we recovered over $2.5 billion for investors in securities-related class action cases – more than the next five law firms combined, according to ISS. With 200 lawyers in 10 offices, Robbins Geller is one of the largest plaintiffs' firms in the world, and the Firm's attorneys have obtained many of the largest securities class action recoveries in history, including the largest ever – $7.2 billion – in In re Enron Corp. Sec. Litig. Please visit the following page for more information: Past results do not guarantee future outcomes. Services may be performed by attorneys in any of our offices. View source version on CONTACT: Robbins Geller Rudman & Dowd LLP J.C. Sanchez, Jennifer N. Caringal 655 W. Broadway, Suite 1900, San Diego, CA 92101 800-449-4900 [email protected] KEYWORD: UNITED STATES NORTH AMERICA CALIFORNIA INDUSTRY KEYWORD: CLASS ACTION LAWSUIT PROFESSIONAL SERVICES LEGAL SOURCE: Robbins Geller Rudman & Dowd LLP Copyright Business Wire 2025. PUB: 06/14/2025 10:30 AM/DISC: 06/14/2025 10:28 AM
Zawya
11-06-2025
- Health
- Zawya
Dubai emerges as a regional hub for gene therapy breakthroughs
Medcare Royal Speciality Hospital is pioneering treatments for rare diseases including Spinal Muscular Atrophy and Duchenne Muscular Dystrophy, potentially saving young lives with a single treatment. Dubai – Dubai is rapidly establishing itself as a hub for cutting-edge gene therapy, with Medcare Royal Speciality Hospital Al Qusais being at the forefront of treating rare genetic disorders such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD). With the hospital's proximity to the Dubai International Airport, a growing number of patients from Turkey, and other countries in the region and beyond are traveling to Dubai for life changing treatments. Medcare has been redefining excellence in the field of paediatric neurology and gene-based therapies, pioneering a new era of hope and healing for families affected by such debilitating conditions. Turkish families are increasingly turning to Medcare for SMA treatments, with incidence rates in Turkey significantly higher than the global average. The hospital's state-of-the-art facilities, international medical expertise, and holistic treatment model position it as a Centre of Excellence for gene disorders, not just in the UAE but across the MENA and the Asia-Pacific regions. SMA, a rare neurodegenerative condition, causes progressive muscle weakness and often proves fatal in infancy if left untreated. In Turkey, SMA affects 1 in every 6,000 births compared to 1 in 10,000 globally [i]. According to the Turkish health authorities, there are currently over 3,000 people living with SMA, and about 150 new cases are diagnosed each year. DMD, another severe neuromuscular disorder, affects over 4,000 genetically confirmed patients in Turkey [ii]. Under the leadership of Dr. Vivek Mundada, a British Board-certified Consultant Paediatric Neurologist at Medcare Royal Speciality Hospital has delivered remarkable outcomes in managing these complex genetic conditions. Unlike traditional therapies that require ongoing spinal injections, Medcare offers a one-time, potentially curative gene therapy that addresses the root cause of the condition, dramatically improving the quality of life and long-term health. Medcare is the first private healthcare provider outside the U.S.A. to successfully administer gene therapy for SMA in the MENA region, having delivered over 100 infusions to date at Medcare Women & Children Hospital. 'Dubai is becoming a center of medical innovation, and Medcare is proud to be leading that movement, especially in the field of rare genetic diseases,' said Dr. Vivek Mundada, Consultant Paediatric Neurologist at Medcare Royal Speciality Hospital. 'Through our comprehensive, patient-centered care model, we are transforming outcomes for children who previously had limited treatment options.' Medcare's approach goes beyond clinical excellence. Patients benefit from a multidisciplinary team that includes experts in neurology, pulmonology, orthopaedics, rehabilitation, and genetic counselling. The hospital also provides continuous follow-up care for international patients after they return home. Turkish families have already seen outstanding results. One such story is that of Mirha, diagnosed with SMA just nine days after she was born. In 2024, she underwent gene therapy at Medcare and is now thriving without the need for breathing or feeding support. Similarly, Elif Bade who was treated in March 2024 when she was just 2 years old, has shown remarkable progress following her gene therapy at Medcare. The parents of Mirha remarked, 'We cannot express enough gratitude to Dr. Mundada and the Medcare team. Thanks to the expert and compassionate care in Dubai, our daughter has been given a new lease on life.' Aligned with the UAE's vision to be a global hub for medical innovation and excellence, Medcare continues to invest in infrastructure, talent, and technology to offer best-in-class care. The newly launched rare disease unit at Medcare Royal Speciality Hospital in Dubai offers AI-powered diagnostics, robotic surgery, and advanced quaternary care, reinforcing its leadership in rare disease management. As part of Aster DM Healthcare, Medcare is committed to expanding access to advanced medical care for international patients, while contributing to the UAE's growing medical tourism sector, where families seek top-tier, cost-effective care without long wait times, especially for critical and time-sensitive conditions like the rare genetic disorders. About Medcare: Medcare is the premium private healthcare provider under the parent group, Aster DM Healthcare. Operating leading state-of-the-art Hospitals, including Medcare Multi-specialty Hospital in Dubai and Sharjah, Medcare Women & Children Hospital, Medcare Orthopaedics and Spine Hospital, and 20 medical centres in the UAE, Medcare has established a strong presence in the UAE. Medcare is dedicated to offering premium integrated health services in accordance with the highest quality. From talent to technology to facilities and treatment, Medcare maintains the highest possible standards in healthcare delivery. All Medcare hospitals and medical centres are accredited by the Joint Commission International (JCI), which is considered the gold standard in global healthcare. Apart from this, Medcare facilities have won several certifications. What sets Medcare apart is its exceptional multi-cultural, multi-lingual team of doctors who have received extensive training from some of the top-notch medical institutes around the world. Using a multidisciplinary approach, the Medcare team provides optimal, evidence-based treatments to patients, with the support of trained nurses, dieticians, rehabilitation therapists and technologists. Living by its simple promise 'We'll Treat You Well', Medcare's team is fully committed to providing high-quality, personalized medical care to every patient. For more information on Medcare visit or follow @Medcareae For media queries, please contact: Akshara Suresh Watermelon Communications Dubai, U.A.E. Email – akshara@
Yahoo
11-06-2025
- Business
- Yahoo
SpliceBio Secures $135 Million Series B Financing to Advance Lead Program SB-007 in Stargardt Disease and Expand Pipeline of Genetic Medicines
Financing co-led by new investors EQT Life Sciences and Sanofi Ventures, with participation from Roche Venture Fund, as well as all existing investors Proceeds will support clinical development of lead program SB-007 in Stargardt disease Funding will also advance a broader pipeline of genetic medicines targeting indications in ophthalmology, neurology, and other undisclosed therapeutic areas BARCELONA, Spain, June 11, 2025 /PRNewswire/ -- SpliceBio, a clinical-stage genetic medicines company pioneering Protein Splicing to address diseases caused by mutations in large genes, today announced the close of a $135 million Series B financing co-led by new investors EQT Life Sciences and Sanofi Ventures, with participation from Roche Venture Fund, as well as all existing investors: New Enterprise Associates, UCB Ventures, Ysios Capital, Gilde Healthcare, Novartis Venture Fund, and Asabys Partners. The funding will be used to advance the clinical development of SpliceBio's lead gene therapy candidate, SB-007 for Stargardt disease, including the ongoing interventional Phase 1/2 ASTRA study and the observational POLARIS study. SB-007 is the first dual adeno-associated viral (AAV) gene therapy cleared by the Food and Drug Administration (FDA) to enter clinical development for Stargardt disease. SB-007 has also received regulatory clearance for clinical development from the UK Medicines and Healthcare products Regulatory Agency (MHRA). Stargardt disease is an inherited retinal disorder caused by mutations in the ABCA4 gene that leads to progressive vision loss and blindness, with no approved treatments available. SB-007 is designed to address the underlying genetic cause of the disease by producing a functional copy of the full-length ABCA4 protein with the potential to treat all patients, regardless of their specific ABCA4 mutation. The proceeds will also be used to accelerate SpliceBio's pipeline of AAV gene therapy programs in ophthalmology, neurology, and other undisclosed indications that utilise the company's proprietary Protein Splicing platform. "This financing marks a pivotal milestone for SpliceBio as we advance the clinical development of SB-007 for Stargardt disease and continue to expand our pipeline across ophthalmology, neurology and beyond," said Miquel Vila-Perelló, Ph.D., Chief Executive Officer and Co-Founder of SpliceBio. "The support from such high-quality investors underscores the strength of our programs and our unique Protein Splicing platform and its potential to unlock gene therapies for diseases that remain untreatable today. We are building a company positioned to lead the next wave of genetic medicines." SpliceBio is redefining and expanding the scope of diseases that can be tackled with gene therapies by addressing a fundamental limitation of AAV vectors in their inability to deliver genes that exceed their limited packaging capacity of 4.7 kilobases. Many genetic disorders remain untreatable because the necessary gene is too large to fit into the AAV vectors. SpliceBio's unique Protein Splicing platform leverages the use of a family of proprietary, engineered proteins called inteins, originally developed at Princeton University. The company's technology enables the splitting of the gene into two (or more) transgenes that are then delivered using dual AAV vectors. Once inside the cell, the DNA of each transgene is transcribed into messenger RNA and translated into protein. SpliceBio's engineered inteins are designed to then assemble the full-length protein that is needed to treat the disease. Daniela Begolo, Managing Director at EQT Life Sciences, commented: "We are proud to support SpliceBio, a pioneer among the next-generation of genetic medicine companies. Its Protein Splicing platform is designed to offer a novel solution to deliver large genes with AAV, one of the field's most pressing challenges, and exemplifies our commitment to backing transformational science that can meaningfully benefit patients' lives." Laia Crespo, Partner at Sanofi Ventures, remarked: "With compelling data for its lead program, SB-007, and a highly differentiated platform, we are excited to support SpliceBio as it tackles a fundamental challenge for genetic medicines. By enabling the delivery of large and complex genes through its novel AAV vector Protein Splicing technology, SpliceBio has the potential to make a significant impact on the field of gene therapy and to deliver best-in-class therapies to patients." Carole Nuechterlein, Head of Roche Venture Fund, added: "We are impressed by the team's strong execution, the momentum behind SB-007 in Stargardt disease, and the platform's potential to unlock a new class of genetic medicines. We are proud to support SpliceBio at this pivotal stage of growth as they advance their lead program through clinical development and explore additional high-impact indications." In connection with the financing, Daniela Begolo, Managing Director at EQT Life Sciences, Laia Crespo, Partner at Sanofi Ventures, and Carole Nuechterlein, Head of Roche Venture Fund, will join the SpliceBio Board of Directors. About SpliceBioSpliceBio is a clinical-stage genetic medicines company pioneering Protein Splicing to address diseases caused by mutations in large genes. The Company's lead program, SB-007, targets the root cause of Stargardt disease, a genetic eye disease that causes blindness in children and adults. SpliceBio's pipeline comprises additional gene therapy programs across therapeutic areas, including ophthalmology and neurology. SpliceBio's platform is based on technology developed in the Muir Lab at Princeton University after more than 20 years of pioneering intein, Protein Splicing, and protein engineering research. For additional information, please visit About SB-007SB-007 is an investigational Protein Splicing dual AAV gene therapy in development for the treatment of Stargardt disease. It is designed to restore expression of the native full-length ABCA4 protein in the retina. SB-007 has been granted Orphan Drug Designation from both the FDA in the US and the European Commission in Europe. In December 2024, SB-007 received FDA IND clearance, marking the first-ever clearance for a dual AAV gene therapy in Stargardt disease. Alongside initiation of the Phase 1/2 ASTRA study, with the announcement of the first patient dosed in March 2025, SpliceBio continues to advance POLARIS, a natural history study of the disease. Both studies are actively recruiting. For more information or to enquire about participation in the studies, please visit About EQT Life Sciences EQT Life Sciences was formed in 2022 following an integration of LSP, a leading European life sciences and healthcare venture capital firm, into the EQT platform. As LSP, the firm raised over EUR 3.0 billion (USD 3.5 billion) and supported the growth of more than 150 companies since it started to invest over 30 years ago. With a dedicated team of highly experienced investment professionals, coming from backgrounds in medicine, science, business, and finance, EQT Life Sciences backs the smartest inventors who have ideas that could truly make a difference for patients. More info: Follow EQT on LinkedIn, Twitter, YouTube and Instagram. About Sanofi VenturesSanofi Ventures is the corporate venture capital arm of Sanofi, focused on investing in promising early-stage healthcare companies. The firm supports pioneering innovations in biotechnology, digital health, and life sciences aligning with Sanofi's mission to bring life-changing treatments to patients worldwide. For more information visit: About Roche Venture FundThe Roche Venture Fund is the corporate venture fund of Roche and invests in innovative life science companies. Over the past 20 years, the Roche Venture Fund has invested in over 60 companies globally and currently has a portfolio of around 30 companies located in 10 countries. As part of a multinational healthcare company, the Roche Venture Fund has access to considerable expertise both internally and externally and co-invests with leading venture funds, including other corporate venture funds, on a regular View original content: SOURCE SpliceBio Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Yahoo
30-05-2025
- Business
- Yahoo
Develop Robust In-Licensing Strategies in the Face of GI CGT Market Changes
Explore the evolving landscape of cell and gene therapies (CGTs) in gastroenterology. Key therapies include Anterogen's Cupistem and Takeda's Alofisel, the latter recently withdrawn by EMA. Understand market trends, develop licensing strategies, and identify opportunities in the CGT segment for GI diseases. Dublin, May 30, 2025 (GLOBE NEWSWIRE) -- The "Cell & Gene Therapies in Dermatology Disorders: Therapeutic Analysis" report has been added to there are only two cell and gene therapies (CGTs) on the market across all gastroenterology (GI) indications. Anterogen's Cupistem, indicated for the treatment of anal fistula in adult patients, was the first adipose tissue-derived mesenchymal stem cell (ASC) asset to receive approval in the GI market in Japan, 2012. This was followed by Takeda Pharmaceutical's Alofisel (darvadstrocel), which received approval from the European Medicines Agency (EMA) in 2018 and from Japan's Pharmaceuticals and Medical Devices Agency (PDMA) in 2021. However, on December 13th, 2024, the EMA announced the withdrawal of Alofisel (darvadstrocel) from the EU market citing lack of data that demonstrated the benefit of this therapy in Crohn's marketed therapies are prescribed when a patient has shown an inadequate response to at least one conventional or biologic to Buy Develop and design your in-licensing and out-licensing strategies through a review of pipeline products and technologies, and by identifying the companies with the most robust pipeline. Develop business strategies by understanding the trends shaping and driving the CGT in Gastrointestinal market. Drive revenues by understanding the key trends, innovative products and technologies, market segments, and companies likely to impact Gastrointestinal disease targeting CGT therapeutics market in the future. Formulate effective sales and marketing strategies by understanding the competitive landscape and by analyzing the performance of various competitors. Identify emerging players with potentially strong product portfolios and create effective counterstrategies to gain a competitive advantage. Organize your sales and marketing efforts by identifying the market categories and segments that present maximum opportunities for consolidations, investments, and strategic partnerships. Company Coverage: Krystal Biotech Inc RHEACELL GmbH Tego Science Inc Japan Tissue Engineering Bio Solution International Co Ltd Organogenesis Holdings Inc EHL Bio Co Ltd Castle Creek Biosciences Inc Abeona Therapeutics Inc Kangstem Biotech Co Ltd Key Topics Covered: 1. Preface2. Executive Summary3. Introduction and Scope4. Current Treatment Options4.1. What is Cell & Gene Therapy?4.2. History of the Development of CGT in Dermatology Disorders4.3. Marketed Product Profiles - Cell and Gene Therapy4.4. Challenges and Opportunities in CGT in Dermatology Disorders5. Pricing and Reimbursement Assessment5.1. High Cost of CGTs Requires Adaptation of Payment Models to Ensure Affordability and Patient Access5.2. Price of Cell Therapy6. Regulations6.1. Regulation of CGTs in the 8MM7. Future Market Assessment7.1. Top 20 Dermatology Disorders with CGT Development7.2. Top Five Dermatology Disorders with the Most CGT Pipeline Assets7.3. Top Five Dermatology Disorders Stratified by Molecule Type7.4. CGT in Dermatology Disorders - Pre-reg and Phase II/III7.5. Additional Players Expected to Join the Competition Within Five Years7.6. Industry Trends in the Application of CGTs in Dermatology Disorders7.7. Most of CGT Market Catalyst is Concentrated in 20258. Likelihood of Approval and Phase - Transition Success Rate Analysis8.1. CGT Candidates Have Higher LoA and PTSR vs. Indication Benchmarks9. Sales Forecast9.1. Sales are forecast to reach $1.5 billion by 2030For more information about this report visit About is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. CONTACT: CONTACT: Laura Wood,Senior Press Manager press@ For E.S.T Office Hours Call 1-917-300-0470 For U.S./ CAN Toll Free Call 1-800-526-8630 For GMT Office Hours Call +353-1-416-8900
ABC News
27-05-2025
- Health
- ABC News
World-first CRISPR therapy could 'transform' treatment for rare genetic diseases, but key challenges lie ahead
It's been described as a revolutionary technology — and won its inventors a Nobel Prize. CRISPR gene-editing, often simply dubbed CRISPR, is a tool that allows scientists to precisely target and modify the human genome, making it possible to correct mutations and potentially treat genetic causes of disease. Earlier this month, scientists used CRISPR technology to achieve a significant milestone: re-write the DNA of a baby with a rare genetic disease. The patient, a now-10-month-old boy named KJ, is the first person in the world to successfully receive a personalised gene-editing therapy. The landmark case, led by scientists and doctors at the University of Pennsylvania and the Children's Hospital of Philadelphia, was published in the New England Journal of Medicine. Not long after he was born, KJ was diagnosed with a rare, life-threatening genetic disorder called CPS1 deficiency, which affects just one in 1.3 million babies. The disorder is caused by a mutation in a gene that affects a person's ability to properly metabolise protein, and results in toxic levels of ammonia to build up in the body. Unlike other CRISPR treatments, which were designed to be used in multiple people with the same disorder, KJ's therapy was customised to correct his specific disease-causing mutation. "This is a significant advance in our ability to modify human genes," said haematologist and gene therapy researcher John Rasko, who was not involved in the study. While it's too early to know whether the CRISPR treatment will work long-term, researchers say it could provide a blueprint for developing customised gene-editing therapies for others with rare diseases. "While KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' said lead researcher Rebecca Ahrens-Nicklas from the Children's Hospital of Philadelphia. The high levels of ammonia caused by KJ's CPS1 deficiency can cause severe damage to the brain and liver and even prove to be fatal. The best available treatment for the condition is a liver transplant, but only about half of babies with CPS1 deficiency live long enough to receive one. Scientists at the University of Pennsylvania had been investigating gene-editing therapies for similar genetic disorders and when KJ was diagnosed, they quickly mobilised to create a treatment to fix his specific mutation. To do this, they used a "genetic engineering trick" called CRISPR base editing, a second-generation CRISPR tool, said Marco Herold, CEO and head of the Blood Cancer and Immunotherapy Lab at the Olivia Newton-John Cancer Research Institute. "The researchers identified through [genome] sequencing that this mutation was the result of a change in DNA bases," Professor Herold, who was not involved in the study, told The Health Report. DNA sequences are made up of four different "letters" which represent different chemical bases. The order of these letters or bases determines the genetic information carried in the DNA. "[CRISPR technology] scans the DNA and runs over all the letters until it encounters the wrong letter — it can be programmed to find this," Professor Herold said. Unlike traditional CRISPR medicines, which bind to the target DNA, cut it, and silence or repair a problematic gene, base editors convert target DNA from one letter into another. "In this case, the letter was an A and it had to be changed into a C … and that leads to the repair," said Professor Herold, whose own research focuses on CRISPR screening and editing. KJ, who had been on a highly restrictive diet since birth, as well as medication to remove ammonia from his blood, was given a small first dose of the novel gene-editing therapy at seven months of age. Over the next two months, he received two more infusions at higher levels. Since the treatment, he's been able to eat a full protein diet and take just half his usual medication — a sign the therapy has, at least partially, reversed his disease. 'While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising,' Dr Ahrens-Nicklas said. Professor Rasko, chair of the federal government's advisory committee on gene technology, said the speed at which the drug was developed was "extraordinary". But he stressed that longer follow up was needed to assess its safety and efficacy, and determine whether additional doses would be necessary. "These are very early days," Professor Rasko said. "Everything is looking great but let's wait a year and see what's going on." It's estimated there are more than 5,000 genetic diseases, which, while rare individually, affect hundreds of millions of people worldwide. In Australia, around two million people — or 8 per cent of the population — live with a rare disease, 80 per cent of which have a genetic cause. But the lack of economic incentive for pharmaceutical companies to develop drugs for extremely rare conditions has led to a scarcity of effective treatments, Professor Rasko said. "Of the 5,000 plus rare genetic diseases, we have a treatment that's specific for less than 5 per cent," he said. Peter Marks, who until recently was responsible for overseeing gene-therapy regulation at the US Food and Drug Administration, described KJ's therapy as potentially "transformational" for the treatment of rare genetic diseases. "Although not all rare diseases may be eligible for a gene-editing approach … there could be hundreds to thousands of diseases that could be treated through an approach similar to the one described," he wrote in an editorial for the New England Journal of Medicine. While KJ's treatment was targeted to his specific mutation, Dr Marks said the same technology could be adapted and "customised" to correct other rare genetic mutations, reducing the cost and complexity of developing new drugs. Professor Herold agreed the same approach could be taken to treat other illnesses caused by a single mutation, with only the CRISPR instructions needing to be changed. "But if you have multiple mutations … there are a lot of diseases that are made up of four, five, six different mutations, then it becomes difficult," he said. "We are not there yet, but we're working at this." Despite the promising results seen in KJ's case, there are several key challenges that need to be addressed before personalised gene-editing could be scaled up and expanded. For one, developing treatments that can successfully reach parts of the body other than the liver — where KJ's mutation occurred — is more difficult, and will require further research. "Because the liver is like a big sieve that processes poisons, toxins, and manufactures hormones and other proteins … the lipid nanoparticles [which encase the gene-editing products] get taken up there," Professor Rasko said. Even though KJ's treatment was a "breathtakingly impressive" proof of concept, replicating and adapting it for other patients would still be resource intensive, he added. "Every time we do this, we have to alter the guide DNA and the technology has to change. It has to be quality-controlled, it has to pass some form of regulatory approval … it's not just a one size fits all." A more established therapeutic approach called gene addition therapy, which involves introducing a working copy of a gene (rather than correcting one), had been a "scientific and medical success" but "an economic failure" to date, Professor Rasko said. "Companies that have been valued at billions of dollars have had to walk away because they can't recoup their costs without charging millions of dollars a pop for these genetic therapies," he said. But, he said, the rate of development and innovation in the field of gene editing — which may help to solve some of the challenges — was "awesome". "You just can't keep up." Listen to the full story on Radio National and subscribe to the Health Report podcast for more.
