Dandy-Walker Syndrome

The news that your child has a health issue is unwelcome news to any parent, but the diagnosis of a rare disease brings a unique, complex set of challenges, and initiates a life-long journey of answer-seeking. As I awaited the birth of my son, instead of prepping the nursery, I was instead informed that he was likely to be born with a rare condition that could severely impact his quality of life. An MRI in the first hours of his life had shown he suffered two strokes in utero, and led physicians to a likely diagnosis of Greig syndrome, a rare genetic disease defined by skeletal deficiencies. Having a rare disease, or being the family of a loved one with rare disease, can be a lonely feeling with much uncertainty about the future. There is often little literature on the condition, few advocacy groups, and limited or no treatment options or clinical trials for investigational treatments. But, when examined together, rare disease patients are anything but rare, and they are anything but alone. According to the National Institutes of Health (NIH), 30 million Americans, or 10 percent of the population, have a rare disease. When you look across the globe, 3.5-5.9% of the world’s population, or 263-446 million people, have a rare disease. This Rare Disease Day is an opportunity to raise awareness of the challenges those living with a rare disease face, and why there’s reason to hope, thanks to advances in science that could potentially change the lives of millions of patients. The rare disease gap From diagnosis to treatment, the lifecycle of a rare disease is typically defined by more questions than answers. These questions started before my son was even born. Upon discovering he had extra toes on a late-stage ultrasound along with several abnormalities in his brain, diagnoses of trisomy 18, and rare diseases such as Dandy Walker syndrome and Greig syndrome were being discussed, as my husband and I scrambled to get a clear definition of these conditions and what they would mean for my son’s life – one more devastating than the next. The lack of research in rare disease and variances in symptoms makes it difficult for providers to make an informed diagnosis, which can take years. Even as someone who has spent their career in central nervous system (CNS) disorders, working in close quarters with neurologists and neurosurgeons and well-versed in complex medical speak, I was often at a loss of what the next steps of care held for my son, and I questioned every symptom in those early months of life. Once a diagnosis is made, the assurance of an answer can be short lived – the path toward sustainable disease management and treatment varies widely by disease. There are approximately 7,000 rare diseases, and yet, only 5% have approved drugs. This presents a Catch-22 – the lack of precedent means rare diseases often do not have a clearly defined clinical trial roadmap or established endpoints, making scientific advancements difficult. The inherently small patient populations also make it difficult for researchers to devote resources to and implement a drug development program and conduct clinical trials. When research is pursued, developing rare disease treatments is a challenge due to their complex biology. Without treatment, patients and their families often need to manage these conditions with supportive care, such as a strict diet in the case of metabolic disorders. The hope in mRNA medicine Rare disease is often viewed as a forgotten, nonlucrative area of research. But, when companies put their valuable resources toward researching your disease that seems to only have dead-ends, it can feel like a sigh of relief – someone cares. Even if it doesn’t lead to solutions, knowing someone is trying can make a world of a difference, and ease the heavy uncertainty patients and their families operate under every day. While mRNA became widely known during the pandemic because of its use in Covid-19 vaccines, the technology was investigated as a therapeutic long before then, and has particular potential for rare diseases. mRNA is a molecule that contains instructions that direct the cells to make proteins. Because many rare diseases are caused by a missing or dysfunctional protein, mRNA could help patients with rare metabolic disorders and potentially a variety of these protein and enzyme deficiencies. Now, scientists are investigating mRNA therapeutic candidates, and are seeing promising results to date. One of the biggest benefits to mRNA technology is its flexibility, allowing for slight variations to successfully target adjacent diseases. Advancing the fight against rare disease Despite needing a life-saving shunt to treat hydrocephalus in his first few months of life and multiple orthopedic surgeries in the years to follow, I am grateful that my fifteen-year-old son has largely lived a normal life with only small limitations. He’s one of the lucky ones. There are millions of families just like mine, waiting for the smoke to clear and for long-awaited answers. Pursuing research in rare disease requires researchers to think differently about R&D, commit to a deep understanding of a patient’s lived experience, and build close relationships with the rare disease community. Our family motto is “never give up, never surrender.” Every rare disease patient is a warrior, but the fight doesn’t need to fought alone, and we’re grateful for the dedication to innovative, collaborative research that advances the battle.

LOS ANGELES--(BUSINESS WIRE)-- Bionaut Labs, the company that uses microscale robots to revolutionize the treatment of central nervous system (CNS) diseases and disorders, today announced $43.2M in a Series B round of financing led by Khosla Ventures, bringing the company’s total financing raised to date to $63.2 million. Also participating in the round are new investors Deep Insight, OurCrowd, PSPRS, Sixty Degree Capital, Dolby Family Ventures, GISEV Family Ventures, What if Ventures, Tintah Grace and Gaingels, along with all existing investors - Upfront Ventures, BOLD Capital Partners, Revolution VC, and Compound. Many diseases of the brain and central nervous system are hard to treat because it is difficult to deliver therapeutics beyond the blood-brain barrier and reach deep locations in the midbrain with precision. Through magnetic propulsion, Bionauts™ can navigate the depths of the human body to deliver drugs locally, generating efficacy and avoiding side effects and toxicity from systemically delivered drugs. By reaching the midbrain safely through novel routes, Bionaut Labs aims to develop solutions to treat the most debilitating conditions including Parkinson’s disease and Huntington's disease, malignant glioma and hydrocephalus. Funds will be used to advance clinical development of the company’s lead programs against malignant glioma brain tumors and Dandy-Walker Syndrome (a rare pediatric neurological disorder). Funds will also support further development of its proprietary Bionaut™ treatment platform, allowing future expansion of clinical targets and progression through Bionaut’s two accelerated FDA designations. Bionaut Labs will release major pre-clinical data packages from IDE and IND enabling studies in 2023, with the goal of initiating human clinical trials in 2024. “There has been a dearth of innovation around treatments for conditions that cause tremendous suffering, in large part because past failures have discouraged even the best of researchers,” said Michael Shpigelmacher, co-founder and CEO, Bionaut Labs. “Bionaut Labs remains committed to finding new ways to treat these devastating diseases, which are long overdue for a breakthrough.” Bionaut Labs is co-founded by two robotics entrepreneurs, Michael Shpigelmacher and Aviad Maizels, who previously co-founded PrimeSense, the company that developed the facial recognition tech behind iPhone’s FaceID (sold to Apple in 2013 for approximately $400M). Its leadership and medical team consists of experts across robotics, neuroscience, biology and drug development. “We are extremely excited about the transformative potential Bionaut presents in treating debilitating neurological disorders,” said Vinod Khosla, founder of Khosla Ventures. “Anatomically precise treatment will make traditionally-used methods seem archaic, and Bionaut is at the forefront of this movement.” “Bionaut Labs tackles a complex pharmaceutical problem which many companies have failed to address in the past,” said Giammaria Giuliani, director of the GISEV Family Office. “As pioneers of micro-robotics for CNS treatment, the company enjoys a strong first-mover advantage and carries great promise.” As neurodegeneration continues to grow in prevalence in the aging global population, Bionaut Labs offers unprecedented therapeutic access to the brain and other hard-to-reach locations in the body, diagnosing and treating diseases that were previously unreachable. Bionaut Labs will transform the way the biopharmaceutical industry develops treatments by offering a mechanism to engineer the therapeutic index for optimal efficacy and safety. About Bionaut Labs Bionaut Labs is a biotech company pioneering precision micro-technology with the deployment of microscale robots (Bionauts™), to remove the barriers of localized treatment and detection of diseases. Magnetic propulsion-controlled Bionauts navigate to deep locations in the human body and brain safely and precisely through non-linear 3D trajectories, making Bionaut Labs the first to access the midbrain through previously inaccessible anatomical routes. Bionauts can perform localized treatment, detection and precise medical procedures to deliver outcomes that were previously unattainable. The FDA has granted Bionaut Labs a Humanitarian Use Device designation for BNL-201, a micro-robot design to treat Dandy Walker Malformation, and an Orphan Drug Designation for BNL 101, a drug-device combination for treatment of malignant glioma. Led by a world-class team of medical, engineering, and drug development experts, Bionaut Labs’ is headquartered in Los Angeles, California, with additional R&D sites in Israel and at the Max Planck Institute in Germany. For more information, please visit www.bionautlabs.com.

Bionaut will use the funding to support the pre-clinical and clinical research of its treatment platform that deploys remote-controlled microscale robots capable of delivering therapies locally to inaccessible disease areas, including the midbrain Bionaut Labs is focused on micro-robotic technology. (Credit: Bionaut Labs, Inc.) Bionaut Labs, a US-based start-up focused on drug delivery robots, has secured $43.2m in a Series B financing round led by venture capital firm Khosla Ventures. Existing investors Upfront Ventures, BOLD Capital Partners, Revolution VC, and Compound have participated in the funding round, which brings the company’s total financing to $63.2m. The investment round has also seen participation from new investors, including Deep Insight, OurCrowd, PSPRS, Sixty Degree Capital, Dolby Family Ventures, GISEV Family Ventures, What if Ventures, Tintah Grace and Gaingels. Khosla Ventures founder Vinod Khosla said: “We are extremely excited about the transformative potential Bionaut presents in treating debilitating neurological disorders. “Anatomically precise treatment will make traditionally-used methods seem archaic, and Bionaut is at the forefront of this movement.” GISEV Family Office director Giammaria Giuliani said: “Bionaut Labs tackles a complex pharmaceutical problem which many companies have failed to address in the past. “As pioneers of micro-robotics for CNS treatment, the company enjoys a strong first-mover advantage and carries great promise.” Bionaut intends to use the proceeds from the funding to advance clinical development of its lead programs against malignant glioma brain tumours and Dandy-Walker Syndrome, a rare paediatric neurological disorder. The company will also support the further development of its unique treatment platform, which will be expanded in the future through two regulatory designations from the US FDA. Bionaut leverages advanced microscale robots to treat central nervous system (CNS) diseases and disorders. It leverages magnetic propulsion to navigate in the human body to deliver drugs locally, while avoiding side effects and toxicity from systemically delivered drugs. The company aims to develop solutions to treat the most debilitating conditions including Parkinson’s disease and Huntington’s disease, malignant glioma, and hydrocephalus. Bionaut is planning to unveil major pre-clinical data from IDE and IND enabling studies in 2023, with plans to initiate in-human clinical trials in 2024. Bionaut Labs co-founder and CEO Michael Shpigelmacher said: “There has been a dearth of innovation around treatments for conditions that cause tremendous suffering, in large part because past failures have discouraged even the best of researchers. “Bionaut Labs remains committed to finding new ways to treat these devastating diseases, which are long overdue for a breakthrough.”