Progress in rare disease drug development is often slowed by limited patient populations, fragmented data and regulatory uncertainty leaving families waiting years for viable treatment options. This webinar explores how patient-led organisations are addressing these challenges by directly shaping scientific strategy, clinical development and regulatory pathways.
Through firsthand case studies, patient and parent leaders will share how advocacy-driven initiatives have accelerated gene-targeted therapies, enabled first-in-human treatments and contributed to historic regulatory approvals. The session will examine how these efforts have moved beyond awareness to deliver tangible outcomes offering practical insight into building momentum, aligning stakeholders and advancing therapies in traditionally non-commercial disease areas.
Attendees will leave with a clearer understanding of how patient leadership can de-risk early research, influence regulatory decision-making and create repeatable models that support faster, more effective rare disease drug development.
Register for this webinar to learn how rare disease drug development can be accelerated through patient-led scientific, clinical and regulatory strategies.
Speakers
(Moderator) Neena Nizar, EdD, Director, Patient Advocacy Strategy, Centre for Rare Diseases, ICON
As Director of Patient Advocacy Strategy within ICON’s Center for Rare Diseases, Neena’s work centers on integrating patient and caregiver perspectives into drug development and clinical research. She brings deep expertise in partnering with advocacy organisations to translate lived experience into meaningful input that informs study design, outcomes development and therapeutic decision making.
Message Presenter
Amber Freed, Founder and CEO of SLC6A1 Connect
Ms. Freed is the Founder and CEO of SLC6A1 Connect. Beyond her role as a successful leader, Ms. Freed is a devoted mother to adorable twins, Miss Riley James and Mr. Maxwell Norman. The journey with Maxwell’s diagnosis of SLC6A1, a rare neurological disease, became a turning point in Ms. Freed’s life. With unwavering determination, she left her career in equity research analysis on the day of Maxwell’s diagnosis, committing herself to the mission of finding a cure.
Over the course of a few years, Amber has not only navigated the challenges of rare diseases but has also taken on the task of repurposing a drug and succeeding in driving a first-in-human gene therapy trial.
Message Presenter
Lindsay Marjoram, PhD, Director of Research, Barth Syndrome Foundation
Lindsay Marjoram, PhD, is the Director of Research for the Barth Syndrome Foundation, which is dedicated to advocacy and advancing research for the development of treatments and, one day, cures for this ultra-rare disease. Dr. Marjoram has a background in developmental biology and a vested interest in rare disease research. Prior to joining the Barth Syndrome Foundation, Dr. Marjoram worked for a pre-clinical contract research organisation specialised in ophthalmology where she gained extensive experience in cutting edge gene therapies and rare.
Message Presenter
Terry Pirovolakis, Co-Founder of CureSPG50 and Founder of Elpida Therapeutics
Terry Pirovolakis, a Co-Founder of CureSPG50 alongside his wife, Georgia, encountered the formidable challenge of addressing his child’s SPG50 diagnosis in 2019. Leveraging robust fundraising and community backing, he spearheaded groundbreaking research, successfully treating his own child within three years through a Canadian CTA and two more children via an FDA IND. Furthermore, Mr. Pirovolakis established Elpida Therapeutics, a social purpose corporation with a non-profit ethos, committed to addressing ultra-rare, non-commercially viable conditions through gene therapies. Collaborating with industry leaders, Elpida initially focuses on SPG50 and CMT4J, with plans to address three more ultra-rare diseases in 2026, allocating profits to sustain and expand programs. Pirovolakis extends his impact by assisting other patient foundations, conducting Gene Therapy 101 classes and collaborating, all driven by the overarching goal of saving as many children as possible.
Message PresenterWho Should Attend?
This webinar will appeal to:
- Pharma and biotech companies involved in rare drug development
- Patient advocacy groups
- Health care professionals
- Job titles
- Medical Director
- Therapy Area Director
- Clinical Trial Director/Manager
- Research Manager
- Strategy Lead
- Healthcare Practitioners/Professionals
What You Will Learn
In this webinar series, attendees will learn about:
- How patient‑led organisations are shaping scientific, clinical and regulatory strategy to accelerate the development of therapies for ultra-rare diseases
- Real-world examples of how patient leadership has catalysed milestone achievements in ultra-rare disease drug development
- Practical, scalable models demonstrating how community-driven initiatives can speed therapeutic development, de-risk early research and bring hope to families faster
Xtalks Partner
ICON
ICON is the world’s leading clinical research organisation, powered by healthcare intelligence. From molecule to medicine, they advance clinical research providing a comprehensive suite of outsourced development and commercialisation services to pharmaceutical, biotechnology, medical device and government and public health organisations. They develop new innovations, drive emerging therapies forward and improve patient lives. Their outsourcing models can be adapted to suit small local trials to large global programs, including full service, standalone services, FSP and full asset development. With headquarters in Dublin, Ireland, ICON employs approximately 41,150 employees in 113 locations in 53 countries.
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