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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 Notes
FOXG1 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 Skin
Birch Bark Extract: A Review in Epidermis Bullosa
Charles River | Cell and Gene Therapy
Charles River | Rare Disease
Eureka Blog | Living Rare
Krystal Biotech Touts Topical Gene Therapy Uptake -
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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
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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 Notes
Mission 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
InviziusCharles 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
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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 NotesTrend Community - Impact Through Insights
Trend Community Report on Identifying Mental Health Challenges Experienced by Caregivers in Rare Disease Communities: A Social Media Analysis
Charles River | Rare Disease
The Disruptors: Innovation in Drug Discovery
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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 NotesRare Disease | Charles River
Foundation for USP-7 Related Diseases
Stronger Every Day Blog
Stronger Every Day Podcast
The Disorder Channel
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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
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For decades, researchers have utilized animal models to help predict the effects of a drug compound in humans.
With recent advances in technology and the passage of the FDA Modernization Act 2.0, researchers are increasingly looking at new methods to refine, reduce, and replace in vivo testing to advance drug candidates. However, one important question remains – how are all these modern advancements and laws driving progress in drug discovery?
Find out as Michael Templin, a member of Charles River’s Scientific Advisory Services team, joins us for a look at the impacts of this legislation on regulatory submission for biosimilars, how improving animal welfare will make drug development better, and what knowledge a CRO can bring to optimize projects.
Show Notes
Animals in Research | Charles River Basic Research | Charles River Research Models and Services FDA Modernization Act -
Spinocerebellar ataxia type 3 (SCA3) is a neuromuscular disease affecting just 50,000 people in the United States, including three generations of the Klassen family.
Greg Klassen, his father, and his son have all been diagnosed with this rare condition that impacts the central nervous system, affecting balance, coordination, and mood. Motivated by the 50/50 chance his son Jeff will develop its unforgiving symptoms, Greg joined the board of the Cure Rare Disease foundation and is currently in touch with the efforts being made to develop a treatment that will improve his quality of life and others affected by SCA3.
Join us for a conversation on how Greg copes with SCA3 in his own life, what the rare disease community is doing to raise awareness, how antisense oligonucleotides (ASOs) could lead to a potential treatment, and what it would mean to him if a cure was developed.
Show Notes
Charles River | Gene Therapy Services Safety Assessment with Antisense Charles Rive | Rare Disease Rare Diseases - Spinocerebellar Ataxia 3 Cure Rare Disease -
The effects of Angelman Syndrome (AS) on young children are debilitating. From an early age, they face an uphill battle with this neurogenetic disease’s unrelenting symptoms, including seizures, cognitive impairments, and loss of motor function.
It can also be tough on caretakers – just ask Dr. Allyson Berent and Jennifer Panagoulias. They both have personal connections to this disease, which in Dr. Berent’s case led to her creating the Foundation for Angelman Syndrome Therapeutics (FAST) in 2008. Today, Panagoulias, whose niece has AS, serves as their head of Regulatory and Policy, tasked with the responsibility to find a path that will develop treatments to improve the quality of life for both patients and caregivers.
Join Jennifer as we discuss the origins of FAST, the science behind Angelman Syndrome, the crucial role outside partnerships have played in research, and what’s in the pipeline for potential therapeutics.
Show Notes
Foundation for Angelman Syndrome Therapeutics ASOs Rescue Brain Rhythms, Sleep Patterns in Angelman Mouse Model A Big Year for Angelman Syndrome Antisense Therapies and Angelman's Syndrome Unsilencing Quincy The Quest to Cure Quincy Development of Potential Outcome Measures for AS Clinical Trials – Angelman Syndrome Foundation
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When patients face the diagnosis of a rare disease, they face a costly, uphill battle to develop a treatment for their condition… that is, if they ever do.
Dr. Stanley Crooke is aiming to change that. As the CEO of n-Lorem Foundation, his mission is to provide personalized treatments to ultra-rare disease patients for free as long as they live, no questions asked. Thanks to his humility, coupled with the generosity of other individuals and companies, ultra-rare disease patients have a renewed hope to get the treatments others may not be able to provide.
Join Dr. Crooke as he reflects on his humble beginnings at Ionis, the approach n-Lorem takes to developing drugs for ultra-rare diseases, and what the future holds for research in this area.
Show Notes
n-lorem Foundation Charles River - Rare Disease Vital Science S4, E01 Project ALS: Fueled by Love 2021 Rare Disease Trailblazers BioSpace: n-Lorem Foundation Preps First Doses to Treat Ultra-Rate Disease Patients for Free Ionis Pharmaceuticals Nature Medicine: Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis -
Imagine being diagnosed with an incurable rare disease before ever being born. This is the reality that Evie faced when she was diagnosed with hypophosphatasia, a condition impacting bone growth, breathing, and mobility, and often gives patients just 18 months to live.
Luckily, her story doesn’t end there. At three months old, she enrolled in a clinical trial for a first-of-its-kind medication that her mom Lindsey claims “probably saved her life”. Today, Evie is 13 years old and continues to defy the odds, giving hope to other young children suffering from a rare disease that they too can find the strength to overcome anything life throws at them.
Join Evie and Lindsey for this emotional look at their journey, how the power of collaboration has helped them along the way, and Evie’s goals for the future.
Show Notes
Every Patient: Evie Evie's Story Rare Disease Impact Charles River Partners with Soft Bones: The US Hypophosphatasia Foundation Probing the Genes of Rare Disease No Time To Waste: Collaborative Efforts in Rare Disease Drug Discovery Charles River Discovery Services -
Could it be possible to regenerate neurons in the human body?
It’s a question that has driven Dr. Wise Young for over 40 years. He’s dedicated his career to researching spinal cord injuries and how to develop a treatment for them. Along the way, he’s discovered neurogenesis, a way to regenerate neurons in not just the spinal cord, but also the brain. Thanks to his work, what everybody told him was once impossible, is now close to becoming a reality.
Join us as Dr. Young discusses his founding of, and work at, the W.M. Keck Center for Collaborative Neuroscience, how the components of stem cells and umbilical cord blood can help regenerate neurons, and what his vision is for the future of research in this growing field.
Show Notes
The Disruptors - Meet Wise https://www.criver.com/therapeutic-area/neuroscience https://www.criver.com/products-services/research-models-services https://www.criver.com/eureka/neuroinflammation-in-spinal-cord-injury-a-necessary-evil https://www.criver.com/eureka/making-efficacy-models-count https://www.criver.com/molecule-type/cell-and-gene-therapy-services https://www.criver.com/products-services/find-model/rnu-nude-rat?region=3611 https://www.criver.com/products-services/safety-assessment https://www.criver.com/industry/academic -
Recent advancements in research has led to the development of effective therapeutics to combat neurodegenerative diseases, giving patients a renewed sense of hope there will ultimately be a more effective treatment.
CEO Lisa Deschamps and her team at AviadoBio are among those conducting research in the space, but they’re doing things a little differently. They’ve been given a unique drug designation by the FDA to develop a treatment for frontotemporal dementia (FTD), a crippling neurodegenerative disorder that affects neuron production in people under 65. It may be a “bold and courageous” undertaking, but the benefits could affect future generations to come.
Join us as we take a look at the motivation behind the work AviadoBio is doing, what makes their therapy unique, and Lisa’s vision for their future.
Show Notes
AviadoBio S4, E01: Project ALS: Fueled by Love S3, E01: A Synergistic Approach to Treating Huntington's Disease Charles River | Neuroscience Charles River | Gene Therapy for Neurological Disorders Charles River| GEne Therapy Services -
As we close in on the end of 2022, we’ve had the privilege to interview some amazing people who are doing great work with drug discovery.
Join Gina Mullane and Todd Poley as we reflect on some of the memorable moments and guests from this season, including an update on Amylyx Pharmaceuticals’ new ALS treatment, Chris Claussen’s discussion on the positive impacts of psychedelic drugs, and the work of Project ALS to develop a treatment for this crippling disease.
On behalf of our entire team, thank you for listening this year. We hope you’ll join us for an exciting lineup of remarkable stories set to premiere in 2023.
Show Notes:
Amylyx Pharmaceuticals Announces FDA Approval of RELYVRIO™ for the Treatment of ALS Alzheimer’s Disease Studies In Vitro and In Vivo Models of Amyotrophic Lateral Sclerosis Are Psychedelics the Next Approach to Treating Mental Health Disorders? FIRST PERSON LAUNCHES INNOVATIVE PRECISION-TARGETED COGNITIVE SUPPLEMENTS TO ACTIVATE THE FULL POTENTIAL OF HUMAN COGNITION The Hermstad Legacy: Advances in Treatments for ALS Project ALS -
Spastic Paraplegia 50 (SPG50) is a neurodegenerative and neurodevelopmental disorder that is known to affect only 80 people around the world, including just one person in Canada.
Unfortunately for Terry Pirovolakis, it happens to be his son, Michael. As a result, he’s teamed up with gene therapy experts, CROs, and nonprofits to research, manufacture, and deliver a therapy to help his son and others suffering from this ultra-rare disease, but the clock is ticking.
Join us as Terry discusses his grassroots efforts to raise money and found the Cure SPG50 Foundation, how SPG50 affects the body, the future of research and development for this disease, and what you can do to help Terry’s efforts.
Show Notes:
Sounds of Science E33: A Father's Fight Eureka Blog: The Hunt for a Solution to SPG50 Cure SPG50 - We Did It Rare Disease Cell and Gene Therapy Products & Services Neuroscience Studies Family of baby boy with ultra-rare disease aims to raise $3M for gene therapy Toronto boy with rare genetic disorder begins treatment after family raises US$3 million Single-patient gene therapy clinical trial at SickKids carves a path for Precision Child Health Elpida Therapeutics -
For Valerie Estess, finding a cure for ALS is personal.
Her sister, Jenifer, was diagnosed with this crippling disease in 1998, which led to the founding of Project ALS, a nonprofit designed to raise awareness and eventually find a cure. Nearly 25 years later, they have raised over $100 million and helped develop Jacifusen, the first therapy designed to help treat ALS. However, Valerie believes their work is far from finished.
Join us for an intimate discussion on the origins of Project ALS, their collaborative efforts with leading scientists, academic institutions, and contract research organizations to further their knowledge of the disease, and what lies ahead for Project ALS’ mission and research.
SHOW NOTES
Project ALSThe Hermstad Legacy: Advances in Treatments for ALSJaci's GenesNeuroscience StudiesS3, E04: From Humble Beginnings to Potential Treatment for ALSAntisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis - Daha fazla göster
