Craniosynostoses

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.

Feb. 15, 2024 -- OrphAI Therapeutics Inc. (“OrphAI”), a clinical-stage biopharmaceutical company developing novel therapeutics for rare diseases, announced today that it has received Orphan Drug Designation (ODD) in the European Union (EU) for the treatment of amyotrophic lateral sclerosis (ALS). AIT-101 previously received ODD from the U.S. FDA in June 2023 for the treatment of ALS. “OrphAI Therapeutics now has orphan designation for AIT-101 both in the US and the EU for the treatment of ALS, an important step toward bringing the drug to patients suffering from this neurodegenerative disorder,” said Dr. Brigette Roberts, CEO and Director of OrphAI. “AIT-101 has demonstrated compelling activity in its ability to clear toxic aggregates, which are a hallmark of ALS and other neurodegenerative diseases. We look forward to moving AIT-101 into the next stage of clinical development." AIT-101 is a first-in-class, potent and highly selective inhibitor of the lipid kinase PIKfyve. Inhibition of PIKfyve leads to activation of the transcription factor TFEB which drives the increased clearance of toxic protein aggregates via the lysosomal autophagy pathway. AIT-101 has now been demonstrated to reduce aggregates in human subjects, to improve the survival of motor neurons in in vitro models of familial and sporadic ALS, and to ameliorate functional deficits in a mutant TDP-43 animal model of ALS. AIT-101 is the most clinically advanced PIKfyve inhibitor in development. OrphAI Therapeutics’ mission is to transform the lives of patients with rare diseases. The company is currently developing three investigational therapies across multiple orphan indications: AIT-101, a first-in-class PIKfyve inhibitor, which recently completed a Phase 2a clinical trial in amyotrophic lateral sclerosis (ALS); LAM-001, a proprietary inhaled form of rapamycin, currently in Phase 2 for Group 1 and 3 pulmonary hypertension and bronchiolitis obliterans syndrome (BOS); and AIT-102, a proprietary analogue of mithramycin, in preclinical development, for the treatment of SWI/SNF mutated or dysregulated tumors. The content above comes from the network. if any infringement, please contact us to modify.

Seasoned leader in drug discovery and developmentGUILFORD, Conn., Jan. 24, 2024 (GLOBE NEWSWIRE) -- OrphAI Therapeutics Inc. (“OrphAI”), a clinical-stage biopharmaceutical company developing novel therapeutics for rare diseases, announced today the appointment of Jay S. Fine, Ph.D. to its Board of Directors. Dr. Fine has a strong track record of drug discovery and development leadership in respiratory diseases, oncology, immunology and fibrotic disease indications. His leadership has contributed to the progression of over 30 new molecular entities into clinical development, leading to the commercial launch of multiple products including Skyrizi™ for Plaque Psoriasis, Psoriatic Arthritis and Crohn’s Disease and Spevigo™ for Generalized Pustular Psoriasis. He has chaired various governance and steering committees at several global pharmaceutical companies. Dr. Fine currently serves as President of Research and Development at EvolveImmune Therapeutics, a development-stage company focused on advancing differentiated immunotherapeutic approaches for the treatment of cancer. Previously, he served as Senior Vice President and Global Therapeutic Area Head for Immunology and Respiratory Diseases Research at Boehringer Ingelheim and as the Discovery Research Site Head at their Ridgefield, CT location. Dr. Fine also served as Head of Translational Biology at Roche Pharmaceuticals, was a Director in the Inflammation department at Schering-Plough and worked in the Biologic Response Modifiers Program at the National Cancer Institute. He holds a B.S. degree from Cornell University and a Ph.D. from the University of Rochester School of Medicine. Dr. Fine has authored over 75 scientific publications and patents and has been the recipient of numerous honors and awards during his career. “Jay Fine represents an extraordinary resource both for the Board as well as for the OrphAI management team, given his years of experience and success in the operational leadership of drug discovery and development. I am personally excited to work with him in this capacity,” said Dr. Brigette Roberts, CEO and Director of OrphAI. “I am very pleased to join the OrphAI Therapeutics’ Board of Directors,” said Dr. Fine. “The company has established an exciting product pipeline which holds tremendous potential to meaningfully improve the lives of patients with rare diseases. I look forward to working closely with the OrphAI team and its board to accelerate the progress of its promising pipeline.” “We are excited to welcome Jay Fine to our Board of Directors,” said David Scheer, Chairman of the Board of Directors at OrphAI. “Jay’s extensive leadership experience and drug development insights will be especially valuable to OrphAI and our Board as we collectively embark on this next stage of the company’s growth.” About OrphAI Therapeutics OrphAI Therapeutics’ mission is to transform the lives of patients with rare diseases. The company is currently developing three investigational therapies across multiple orphan indications: AIT-101, a first-in-class PIKfyve inhibitor, which recently completed a Phase 2a clinical trial in amyotrophic lateral sclerosis (ALS); LAM-001, a proprietary inhaled form of rapamycin, currently in Phase 2 for bronchiolitis obliterans syndrome (BOS) and pulmonary arterial hypertension (PAH); and AIT-102, a proprietary analogue of mithramycin, in preclinical development for the treatment of SWI/SNF mutated or dysregulated tumors. To learn more, please visit: OrphAI-Therapeutics.com