Akhil Agarwal’s Post

Gene therapies can offer children like Celia Grace, who was diagnosed with a rare and often fatal genetic neurological disease, a chance at a future once deemed impossible. New clinical trials here and across the nation are bringing these life-changing breakthroughs to families. But the steep multi-million-dollar costs of these therapies imposed by drug makers coupled with the lack of Medicaid or private insurance coverage means many families won’t be able to access these treatments – particularly communities of color. Paul Orchard, Roy Kao, and Ashish Gupta are physicians and researchers with M Health Fairview and the University of Minnesota Medical School who have devoted their lives to finding new cures for conditions like inherited neurological disorders, enzyme deficiencies and sickle cell disease. “Without comprehensive coverage from Medicaid and private insurers, equitable access to transformative gene therapies is becoming a greater obstacle than the development of the therapies themselves,” they wrote, sounding the alarm in a Star Tribune column published on Sunday. I join our physicians and scientists in urging Minnesota legislators to act this session on legislation that would remove this barrier to access for emerging gene therapies. Read more. ➡ https://bit.ly/4bzjgfW #GeneTherapy | #RareDiseases | #Medicaid 

With more than 7,000 rare diseases impacting millions of people, we’re steadfast in our pursuit of curative #GeneTherapies for these individuals with limited options. In order for patients to benefit from advancements in research, the healthcare community must devote concerted efforts to increase early, accurate diagnosis of potentially reversible or curative conditions through expanded #GeneticTesting and newborn screening.    In my recent article in PMLiVE, I discuss how early diagnosis and advances in #GeneTherapy could transform the lives of patients with rare cardiovascular disease, including #DanonDisease, a fatal heart condition that leads to mortality in the majority of male patients at age ~20 and females at age ~40, and for which there are no approved curative or disease-modifying therapies.    At Rocket Pharmaceuticals we’re deeply committed to researching gene therapies for rare, devastating diseases like Danon Disease. Expanded genetic testing and screening will help ensure patients receive an early and accurate diagnosis.

This last December, the FDA approved the first gene therapies to treat patients with Sickle Cell Disease, a severely painful disease that restricts the delivery of oxygen to the body's tissues and causes organ damage. While this marks an important medical advancement, the price tag on these treatments has everyone wondering will the patients who need the therapies have access to them. Casgevy lists for $2.2 million, while Lyfgenia lists for $3.1 million, making them among the most expensive medicines on the market. The multimillion-dollar cost and the limited ability to predict/budget for that cost has employers fearful of the financial implications to their health plans. However, excluding coverage risks disabilities-based discrimination claims, and these gene therapies treat previously untreatable or difficult-to-treat conditions. Patients with these conditions do not have treatment alternatives, or the current alternatives are costly and only temporarily manage symptoms without significantly improving outcomes. Additionally, some gene therapies may be curative, and cost associated with the ongoing treatment of disease symptoms may be reduced. While this isn’t universal to all gene therapies, it is estimated that the cost of managing sickle cell over a lifetime for someone with recurrent pain crises is between $4 million and $6 million compared to $2.2 million for the gene therapy. Of course, there is no guarantee the patient stays on your health plan after treatment. These are complex issues that require careful consideration, and it is crucial for employers to weigh the pros and cons of covering gene therapies. At the same time, we must recognize the potential of these treatments to target potentially devastating diseases and improve public health. #genetherapies #healthcarecosts #sicklecelldisease #medicaladvancements

Future of gene therapy is incredibly promising, extending beyond rare diseases to broader applications like treating common conditions with transformative potential, offering new hope for millions of patients worldwide. Continued investment in research and development, along with thoughtful consideration of the ethical and regulatory landscape, will be key to realizing the full potential of this innovative approach.    At Cipla, we focus on innovation and are excited about these advancements and their implications to provide cutting-edge healthcare solutions to patients. Our strategic investment with Ethris for the development of messenger RNA (mRNA)-based therapies underscores our commitment to pioneering solutions, especially for bringing innovative treatments for patients with respiratory diseases. Inhaled gene therapy stands out as a promising approach for treating a variety of respiratory diseases. By delivering genetic material directly to the lungs, this method opens new possibilities for patients with conditions that have been challenging to treat with conventional therapies. https://lnkd.in/dUYUdSEX   #Transformation #Gene-therapy #Innovation

The promise of gene therapy offers hope for treating previously untreatable conditions. However, accessibility and affordability remain significant barriers. How can healthcare leaders overcome these challenges to ensure that these groundbreaking treatments reach all patients who need them? Imagine a future where a dedicated healthcare leader named Dr. Muthoni successfully addresses this issue, making groundbreaking gene therapies available to everyone in Nairobi, regardless of their financial situation. Meet Dr. Muthoni, a pioneering healthcare leader in Nairobi, who recognized the urgent need to make gene therapy treatments more accessible and affordable for patients in our community. Dr. Muthoni spearheaded a multi-faceted approach that involved partnering with local and international pharmaceutical companies, advocating for government subsidies, and implementing a sliding scale payment system based on patients' ability to pay. This holistic strategy not only reduced costs but also expanded access to life-saving treatments.  Through her efforts, a young boy with a rare genetic disorder received gene therapy, which significantly improved his quality of life. His family, initially unable to afford the treatment, benefited from the sliding scale system, making the treatment accessible. Collaboration and innovative payment solutions can break financial barriers. By leveraging partnerships and flexible payment models, healthcare leaders can ensure equitable access to advanced therapies. Consider how a similar approach could be implemented in your pharmacy or healthcare practice. Partner with pharmaceutical companies to negotiate better prices and work with patient advocacy groups to identify those in need of financial assistance. This proactive stance not only helps patients but also builds your reputation as a compassionate and forward-thinking healthcare professional. Let's continue this conversation: Let's continue this conversation: What immediate steps do you think we can take to incorporate gene therapy in our healthcare practices? Share your ideas in the comments!

For those trying to better understand gene therapy, read Maria Kefalas’ post below. A Lenmeldy/Libmeldy patient: “Giovanni is now 15 years old.  His friends and teachers have no idea he has MLD.” And for employers, especially self-funded employers opting not to cover via Stoploss/Reinsurance, consider the costs of not covering (besides the obvious moral ones): “Cal [patient who did not have access to Lenmeldy/Libmeldy owing to timing] had 1712 confirmed provider contacts over a ten year period: 194 blood tests, 42 x-rays, 22 ER visits, 16 admissions (including 2 PICU stays ), 11 ultrasounds, and two MRIs.” This, all pales in comparison to the mental anguish of losing a child. Not covering gene therapy, as Mosaic ‘Life Care’ attempted to do in St. Louis, Missouri last month, could lead to a two class system where employees’ children will pass because employers opted to employ excuses not to cover vs. tactics to ensure risk mitigation. #mosaiclifecare #zolgensma #genetherapy #orchard #lenmeldy #libmeldy #kirowakiran

CRISPR-Cas9 gene therapy is revolutionizing medicine, one disease at a time. This time, is for a rare condition called hereditary angioedema - painful and occasionally deadly swelling of soft tissues in the head and neck. FDA has approved the technology for treatment of Sickle Cell disease. On the horizon: other hereditary diseases: hemophila, β-thalassemia, cystic fibrosis, Alzheimer's, Huntington's, Parkinson's, tyrosinemia, Leber congenital amaurosis, Duchnene muscular dystrophy, Tay-Sachs, and fragile X syndrome. Also ongoing to modify Tcells to better fight several CANCERS and to neutralize the HIV and SARSCoV2 viruses. Being used in agriculture to allow plants to withstand the effects of climate change and to gene editmosquitoes to fight malaria. There are unknowns regarding the potential risks of CRISPR therapy. Some scientists are concerned about possible off-target effects as well as immune reactions to the gene-editing tool. But scientists are proposing and testing a wide range of approaches to tweak and improve CRISPR in order to increase its efficacy and safety. We all owe a gigantic debt of gratitude to two magnificent women scientists - Doudna and Charpentier - for developing a technology that is changing the world, one miracle at a time. #crispr

What is Hemophilia? Hemophilia is a genetic disorder in which the blood’s ability to clot is significantly impaired. It is caused by a deficiency in specific clotting factors, primarily Factor VIII (Hemophilia A) or Factor IX (Hemophilia B). As a result, people with haemophilia experience prolonged bleeding after injury, surgery, or even spontaneously in severe cases. How to Diagnose Hemophilia? 1. 🩸 Bleeding History A family or personal history of prolonged or spontaneous bleeding is a key indicator of haemophilia. 2. 🔬 Blood Tests a. Clotting Factor Tests: These measure the level of clotting factors in the blood. Low levels of Factor VIII or IX indicate Hemophilia A or B, respectively. b. Activated Partial Thromboplastin Time (aPTT): This test measures how long it takes blood to clot and is often prolonged in haemophilia. 3. 🧬 Genetic Testing Identifies mutations in the F8 (for Hemophilia A) or F9 (for Hemophilia B) genes to confirm the diagnosis and identify carriers. Treatment of Hemophilia 1. 💉 Replacement Therapy The main treatment involves replacing the missing clotting factors. These can be administered: - On-Demand: After a bleeding episode to control it. - Prophylactically: Regularly, to prevent bleeding in severe cases. 2. 🧬 Gene Therapy Ongoing research focuses on gene therapy, aiming to introduce functional copies of the defective gene to provide long-term treatment or even a potential cure. 3. 🩺 Desmopressin (for Hemophilia A) In mild cases, this medication can stimulate the release of stored Factor VIII to reduce bleeding. 4. ⚕️ Physical Therapy Helps prevent joint damage due to internal bleeding by strengthening muscles and improving joint mobility. Prevention While haemophilia is genetic and cannot be prevented, certain steps can help manage and reduce the risk of complications: 1. 🏥 Regular Medical Care Routine check-ups with a haematologist can help monitor clotting factor levels and prevent severe bleeding episodes. 2. 🏋️♂️ Exercise Safely Engage in low-impact exercises like swimming or walking to strengthen muscles and joints without risking injuries that can cause bleeding. 3. 💉 Vaccinations Ensure immunizations are administered with the smallest needles possible to minimize the risk of bleeding. 4. ⚠️ Avoid Blood-Thinning Medications Medications such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs) can worsen bleeding tendencies and should be avoided.

Part 2: Confusion in Nigeria: In Nigeria, the high prevalence of Sickle Cell Disease (SCD), G6PD deficiency, and thalassemias can sometimes lead to confusion in diagnosis due to overlapping symptoms like anemia and fatigue. The key differences in triggers (e.g., oxidative stress in G6PD vs. vaso-occlusive crises in SCD) and inheritance patterns are important for differential diagnosis. Causes of Confusion: • Lack of Awareness: Many patients and healthcare providers may confuse the conditions due to similar symptoms, especially anemia. • Limited Diagnostic Resources: Access to specialized tests like hemoglobin electrophoresis or DNA testing may not be widely available in some healthcare settings, leading to misdiagnoses. • Overlap in Symptomatology: Fatigue, anemia, and jaundice can appear in all three conditions, making clinical differentiation harder without lab support. Diagnostic Approaches: • G6PD Deficiency: Enzyme assay to measure G6PD levels in red blood cells. • Sickle Cell Disease: Hemoglobin electrophoresis to identify the abnormal HbS. • Alpha Thalassemia: Genetic testing to detect mutations in the alpha-globin genes or hemoglobin electrophoresis to evaluate hemoglobin subtypes. Unity Health Pharmaceutical’s Unique Approach to Innovative Care: Unity Health Pharmaceutical is committed to addressing the unique health challenges posed by genetic blood disorders such as G6PD deficiency, sickle cell disease, and alpha thalassemia in Nigeria through its holistic approach: 1. Comprehensive Screening Programs: Implementing community-based screening programs in collaboration with local health centers to diagnose these conditions early, using advanced diagnostic tools like DNA sequencing for more accurate detection. 2. Innovative Therapeutics: Developing affordable and accessible generic medications for the management of these disorders, including pain relief for sickle cell crises, folic acid supplementation for thalassemia, and antioxidant therapies for G6PD deficiency patients. 3. Personalized Care: Unity Health is exploring personalized medicine options tailored to each patient’s genetic profile. This includes predictive modeling to assess risk factors for complications and individualized treatment plans. 4. Education and Outreach: Partnering with healthcare professionals to provide training on the differentiation between these disorders, ensuring proper diagnosis and management, particularly in rural and under-resourced areas. 5. Partnerships for Advanced Care: By leveraging its pharmaceutical campus and surrounding expansion land, Unity Health is collaborating with international and local partners to advance research in genetic disorders, particularly targeting innovations in gene therapy and stem cell treatments for sickle cell disease.