TREND: The Online Community Making a Difference

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 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

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 River

Foundation for USP-7 Related Diseases

Stronger Every Day Blog

Stronger Every Day Podcast

The 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 

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 
   

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