Putting you in the heart of the rare community – PTLS Hope Research Foundation
Estimated reading time: 4 minutes
Patient advocacy groups deliver their top three unmet needs and main asks of industry to best serve their rare community. This week’s insights come from Mandy Sunner, co-founder, PTLS Hope Research Foundation
The Potocki-Lupski Syndrome Hope Research Foundation (PTLS Hope) is a parent-led nonprofit dedicated to accelerating research, improving clinical understanding and advancing treatment development for Potocki-Lupski syndrome (PTLS), a rare genetic condition caused by a duplication involving the RAI1 gene. Our mission is to drive meaningful scientific progress while supporting individuals with PTLS and their families worldwide.
PTLS Hope funds and facilitates innovative research projects, including biomarker studies, deep RNA analysis, natural history research and collaborations with leading geneticists, clinicians and biotechnology partners. By bringing together researchers, healthcare professionals, families and advocates, we aim to better understand the biological mechanisms underlying PTLS and identify pathways for future therapies.
In addition to research, we provide education, resources and community support through our global parent network, expert webinars and awareness initiatives. We believe that research creates hope and that hope drives change for every individual and family affected by PTLS.
Potocki-Lupski syndrome (PTLS) is a rare genetic condition caused by a duplication of a small region on chromosome 17 that includes the RAI1 gene. PTLS is associated with a wide range of developmental, cognitive, behavioral and medical challenges that can significantly impact quality of life. Common features include low muscle tone, developmental delay, intellectual disability, severe learning difficulties, speech and communication impairments, feeding problems, autism spectrum disorder, anxiety, sleep disturbances and other health concerns.
While severity varies, many individuals require lifelong support, with most families reporting that independent living is unlikely. Due to its rarity and complexity, continued research is essential to improve understanding, care and future treatment options.
What are your top three unmet needs or main asks of industry to best serve your rare ecosystem?
Increased Investment in PTLS-specific research and drug development is needed. PTLS remains significantly under-researched, leaving families without approved treatments that address the underlying biology of the condition. We need industry partners to invest in natural history studies, biomarker development and therapeutic discovery programmes to better understand disease mechanisms and identify treatment targets. Without this foundational research, meaningful therapies cannot be developed.
Increased collaboration and data sharing across the rare disease community is essential. Due to the small patient population, progress depends on collaboration. We encourage industry to work closely with researchers, clinicians, patient organisations and families to share data, reduce duplication of effort and accelerate discoveries. Open collaboration can help overcome the challenges of limited patient numbers and bring treatments to patients faster.
Families living with PTLS possess valuable insights into the condition’s real-world impact. We ask industry to involve patient organisations and caregivers early in research and development programmes, clinical trial design, outcome measure selection and treatment prioritisation.
Ensuring that patient voices are incorporated throughout the process increases the likelihood that future therapies address the needs that matter most to affected individuals and their families. For the PTLS community, these needs are critical because most individuals face lifelong cognitive, developmental and functional challenges, yet there are currently no approved therapies that alter the course of the condition. Continued partnership between industry and the patient community is essential to drive meaningful progress.
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