Overview
In recognition of Rare Disease Day, please join ICON’s Centre for Rare Diseases for an inspiring panel featuring parent and patient leaders whose relentless advocacy and action have driven unprecedented progress in therapeutic development across ultra-rare diseases, challenging regulatory norms, catalysing scientific breakthroughs, and bringing hope where none previously existed.
Amber Freed, Founder and CEO of SLC6A1 Connect, will share how she helped marshal scientific, clinical, and regulatory momentum toward a gene-targeted therapy strategy, resulting in her son Maxwell becoming one of the first patients to receive an FDA-authorised investigational treatment in 2025. Her journey illustrates the power of patient leadership to accelerate innovation and access.
Lindsay Marjoram, PhD, Director of Research at the Barth Syndrome Foundation, will discuss the organisation’s role in advancing what became the first FDA-approved therapy for Barth syndrome. In September 2025, elamipretide (Forzinity) received accelerated approval, marking a historic regulatory milestone for a devastating mitochondrial disease with an unmet need for treatment options.
Terry Pirovolakis, co-founder of CureSPG50 and founder of Elpida Therapeutics, will reflect on treating his own child with a first-in-human gene therapy and building a biotech to deliver therapies for ultra-rare, traditionally non-commercial diseases.
Please join us to celebrate how patient-led organisations are shaping regulatory strategy, advancing first-ever treatments, and creating repeatable models to bring therapies to families faster, redefining what is possible in rare disease drug development.
In this webinar series, attendees will learn about:
- How patient‑led organisations are shaping scientific, clinical, and regulatory strategy to accelerate 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
Who should attend:
This webinar is aimed at professionals with an interest in rare disease research including those working in the following areas:
- Pharma and biotech companies involved in rare disease development
- Patient advocacy groups
- Health care professionals
- Medical director
- Therapy area director
- Clinical trial director/manager
- Research manager
- Strategy Lead
- Healthcare practitioner / professionals
Speakers:
Neena Nizar
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.
Amber Freed
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. Her dedication and accomplishments have positioned her as a prominent leader within the rare disease community.
Lindsay Marjoram
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 organization specialized in ophthalmology where she gained extensive experience in cutting edge gene therapies and rare diseases impacting vision loss.
Terry Pirovolakis
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 ground-breaking 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, functioning as 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 engaging in collaborations, all driven by the overarching goal of saving as many children as possible.