Cure Rare Disease: Continuing a Legacy

Being the parent of a child with an ultra-rare disease can be a daunting challenge.Nasha Fitter is no different. Her daughter Amara is nonverbal and suffers from epileptic seizures, two of the common symptoms associated with her eventual diagnosis of an ultra-rare neurodevelopmental disorder known as FOXG1 Syndrome. Motivated by her desire to learn more about this condition, she co-founded the FOXG1 Research Foundation (FRF) with her fellow peers.Through all the challenges they’ve faced, Nasha and FRF are set to conduct critical research in the hopes of developing a treatment for not just this condition, but other ultra-rare diseases primarily affecting children to eventually give them “the life they deserve.”Join us as we conclude season five where Nasha discusses the origins of FRF, how Amara’s life has been shaped by her diagnosis, how collaboration has helped advance the Foundation’s mission, and what you can do to support their ultimate goals.Show NotesFOXG1 Research Foundation FOXG1 Research Foundation's Nasha Fitter Speaks at the White House Rare Disease Forum Rare Disease | Charles River CRISPR/Cas9 Gene Editing | Charles River ASO Screening and Profiling 

Imagine giving birth to a baby girl and noticing pieces of skin missing from her body almost immediately.  For Sharmila Nikapota, this was the case with her firstborn, Sohana. Genetic testing revealed that she was one of the over 500,000 people globally suffering from Epidermolysis Bullosa (EB), a “constantly painful and debilitating” skin condition where minimal contact can lead to blisters, wounds, tissue damage, eating difficulties, and eye injuries, among other symptoms. After seeking answers for her daughter’s prognosis and not getting any, Sharmila started Cure EB to educate people and eventually discover ways to manage this painful condition. With the UK approving a first-of-its-kind topical treatment for EB, she hopes it’s the first of many that can give patients like her daughter a better quality of life.Join Sharmila as she discusses how Sohana’s experience with EB has shaped her personality, the origin and mission of Cure EB, the challenges of managing Sohana’s condition, and what you can do to further Cure EB’s ultimate goals.Show Notes Cure EB - Accelerating Research to End Painful SkinBirch Bark Extract: A Review in Epidermis BullosaCharles River | Cell and Gene TherapyCharles River | Rare DiseaseEureka Blog | Living RareKrystal Biotech Touts Topical Gene Therapy Uptake

Stimulant use in the United States has exploded into a nationwide crisis, as deaths and emergency room visits resulting from methamphetamine and cocaine use are rising at an alarming rate.The overall substance abuse disorder crisis is further exacerbated by the high level of fentanyl use, which has long been referred to as an opioid epidemic, and the increasing use of more than substance at once. One fundamental limitation on the ability to respond to the crisis is that, to date, there is no FDA-approved therapeutic to treat overdose from stimulants like methamphetamine and cocaine, or polydrug. Users who want to get clean and rid themselves of methamphetamine, cocaine, and/or fentanyl often find it difficult, essentially “chaining” themselves into a cycle of use that’s mostly impossible to break.First responders and emergency department physicians lack sufficient tools to treat overdose. But what if there was a treatment that could eliminate toxins and restore normal bodily function within minutes? That’s the aim of Clear Scientific, a small biotech in Cambridge, MA that’s currently testing a treatment (CS-1103) using small molecules to “eat” toxins and deactivate their harmful effects almost instantly. With Phase I of a first-in-human (FIH) clinical trial ongoing, this revolutionary therapeutic is offering hope to those suffering from drug misuse and addiction a “chance to get better.”Join us as Mitch Zakin, Co-founder and Executive Vice President of Innovation, and Winston Henderson, Co-founder and General Counsel, discuss their therapeutic approach, offer an update on their progress with CS-1103, how collaboration has enhanced their development, and how they hope it will eventually impact this epidemic.Show Notes  Clear Scientific World Congress: Drug Modality Game Changers Clear Scientific to Start Phase 1 Trial for Stimulant Antidote Charles River | IND-Enabling Studies Charles River | Small Molecule 

At Mission Therapeutics, Sarah Almond serves as their Head of Pharmacology, but she wears many hats to help develop potential treatments for neurodegenerative conditions.      Their main area of focus centers around research into deubiquitinating enzymes (DUBs), which may impact neurodegeneration. By studying DUBs, Sarah and her team have been able to generate highly targeted and potent molecules that contribute to developing safe and effective therapeutics. In fact, one of these compounds (MTX325) is currently enrolled in a clinical trial to test its safety and pharmacokinetics ahead of effectiveness in treating Parkinson’s disease, a neurodegenerative condition impacting the central nervous system. With the first patient dosing scheduled for later this year, they are hopeful it could be a gamechanger for treating these debilitating conditions.      Join Sarah as we discuss Mission Therapeutics, the science behind DUBs, how collaboration with a CRO advanced their research, and what her thoughts are on the future of drug discovery and development for neurodegenerative conditions, among others.Show NotesMission Therapeutics Poster: Development and validation of a high content-based assay to measure Tom20 loss in dopaminergic human neurons differentiated in vitro Parkinson's Disease Studies | Charles River Neuroscience | Charles River Knockout or Inhibition of USP30 protects Dopaminergic Neurons in a Parkinson's Disease Mouse Model Mission Therapeutics granted MHRA Clinical Trial Authorisation (CTA) for MTX325 for the treatment of Parkinson’s Disease Mission Therapeutics announces US FDA approval to initiate Phase II clinical trial of its lead asset MTX652 in Acute Kidney Injury 

When he founded Cure Rare Disease in 2018, Rich Horgan was primarily focused on finding a treatment for his younger brother Terry, who had an ultra-rare form of Duchenne Muscular Dystrophy (DMD).   Suffering from a disease that has no cure, Terry served as a “selfless, brave, and courageous” figure that Rich continues to draw inspiration from when seeking new, innovative solutions to treat this progressive, neurodegenerative condition.   Join us for this interview as Rich discusses the origins of Cure Rare Disease, Terry’s ongoing legacy, the collaborative effort it takes to advance the drug development journey, the important role of the patient voice when developing treatments, and the future of rare disease research.  Show Notes What We Owe Terry Horgan: Reflections from Providers, Family, and Scientists Letter From Terry's Parents The Disruptors - Meet Rich In Vitro Assays for Duchenne Muscular Dystrophy 2022 World Congress Video Duchenne Muscular Dystrophy Studies Rare Disease Research for Drug Development Scientific Collaboration Leads to Faster Drug Development Cure Rare Disease   

For the 850 million people around the world suffering from chronic kidney disease, the grind of dialysis treatment can wear them down in more ways than one.    Dr. Andy Herbert, co-founder of Invizius, is out to change that. This five-year-old company started from humble beginnings and is currently developing H-Guard® Priming Solution, which increases the effectiveness of dialysis while negating, or eliminating, its potentially dangerous side effects. It will be used in an upcoming first-in-human clinical trial and has the potential to improve patients’ quality of life – both physically and mentally.   Join Dr. Herbert as we discuss the origins of Invizius, how H-Guard works, why dialysis can take a toll on mental health, and how working with a strategic partner has helped Invizius progress this treatment.Show Notes   Invizius Charles River's Nonclinical Support Helps Invizius Secure MHRA Approval for First-in-Human Trial of H-Guard® Hemodialysis Solution Renal Disorders | Charles River Preclinical CRO Services for Safety Assessment Inflammation | Charles River

Over the past 12 months, we have shared some remarkable stories from the scientific community, but three of the most impactful have come from “Disruptors” in their respective fields. Relive these stories with our hosts on the year-end edition of Vital Science. Show Notes  The Disruptors: Conversations in Science Meet Valerie Meet Wise Charles River | Gene Therapy for Neurological Disorders In Vitro and In Vivo Model of Amyotrophic Lateral Sclerosis  https://www.criver.com/eureka/neuroinflammation-in-spinal-cord-injury-a-necessary-evil W.M. Keck Center for Collaborative Neuroscience   

When Maria Picone’s daughter was diagnosed with Prader-Willi Syndrome (PWS), she turned to the internet for answers.   What she found was an online community of caregivers sharing their experiences with PWS, giving her comfort and direction with what to do about her daughter’s rare disease. It also spurred her and her husband to create TREND Community, an online platform for caregivers of rare diseases to not only share their experiences, but also make positive contributions to scientific literature.   Join us as we discuss the philosophy of TREND Community, how it transforms general discussions into real-world clinical research, how collaboration drives their progress, what’s next for TREND, and what you can do to help advance their mission.    Show Notes Trend Community - Impact Through InsightsTrend Community Report on Identifying Mental Health Challenges Experienced by Caregivers in Rare Disease Communities: A Social Media AnalysisCharles River | Rare DiseaseThe Disruptors: Innovation in Drug Discovery

Imagine a world where your child has a rare disease that’s so rare, it doesn’t have a name and only a handful of people around the world have a similar condition. It can leave you feeling helpless and alone knowing the odds are stacked against you.  This is the situation Bo Bigelow experienced with his daughter, Tess. She suffers from a USP7, a neurodevelopmental disorder that impacts her motor function, speech, and bone development. Tess’ condition left Bo looking for help… and he found a lot of other patients and families with other ultra-rare diseases that wanted to share their stories too. Today, Bo’s initiatives have given hope to other people and help them find strength in knowing they’re not alone.  Join us as we discuss the ways Bo documented his daughter’s journey, learn more about USP7-related diseases and their impact, how Bo created the Disorder Channel as a way for other rare disease patients to tell their stories, what progress is being made to learn more about Tess’ condition through the Foundation for USP7-Related Diseases, and how you can help advance their research.  Show Notes Rare Disease | Charles RiverFoundation for USP-7 Related DiseasesStronger Every Day BlogStronger Every Day PodcastThe Disorder Channel  

18-year-old Emily Whitehead aspires to be a writer, but nothing could have prepared her for the plot twist that struck her as a child.   In the space of just 24 hours, five-year-old Emily suffered from various symptoms that culminated in a diagnosis of acute lymphoblastic leukemia (ALL). After almost two years of failed chemotherapy treatments, her family turned towards an experimental CAR-T therapy that had been successful with adults but never been used on a child. Three weeks later, Emily became the first child in the world to beat her cancer by “training” her immune system to fight these malicious cells.   Join Emily and her father, Tom, as they relive the chain of events that led to her diagnosis, what helped her stay calm as she underwent this experimental treatment, and how the Emily Whitehead Foundation aims to help others who are going through pediatric cancer treatment.Show Notes    Emily Whitehead Foundation Vital Science S3 E02: Can MILs Strike a Killer Blow to Cancer? World Congress Event Page | Charles River Cell and Gene Therapy | Charles River Oncology CRO Services | Charles River