The second day of the Annual Family Conference and Interactive Workshop on Niemann-Pick diseases unfolded as a powerful testament to the resilience, determination, and unwavering spirit of the Niemann-Pick community. What began as a gathering transformed into a vibrant hub of knowledge sharing, heartfelt connection, and passionate advocacy. The day was a carefully woven tapestry, each session contributing a unique thread, ultimately creating a rich and meaningful experience for all attendees.

A warm welcome and setting the stage

The day commenced with a warm and inviting introduction by Helen Carter and Joella Melville, co-chairs of NPUK. Their words gave a sense of genuine joy at the reunion, as they acknowledged the 18 months that had passed since the last meeting. Helen spoke with warmth of  the strong bonds within the community, expressing delight in seeing familiar faces and welcoming new families into the fold. She emphasised the conference’s flexibility and responsiveness to individual family needs, assuring attendees that participation was entirely at their comfort level. Whether it was attending all sessions, taking breaks, or simply enjoying the sunshine, each family’s unique circumstances were respected and catered to. This introduction set a tone of inclusivity and personalised support, making it clear that the conference was a collaborative and deeply human experience.

Adding an artistic touch to the day’s proceedings, Yurim Goughs introduced her artwork, “The Path We Take; the Path We Are Taking; the Path We Will Take; the Path Beyond,” inspired by NPC research. Her creation aimed to capture the emotional journey of dealing with challenging circumstances and overcoming adversity, providing a visual metaphor for the shared experiences of the attendees.

Toni Mathieson, CEO, NPUK reiterated NPUK’s deep disappointment by the National Institute for Health and Care Excellence (NICE)’s decision not to recommend olipudase alfa for routine NHS use in treating ASMD. Despite acknowledging the treatment’s clinical effectiveness, NICE deemed its cost too high under the current framework for highly specialised medicines.

Toni emphasised the devastating impact of this decision, stating that the cost of a drug should not outweigh the value of a life. Calling for collaboration among NICE, the NHS, policymakers, and pharmaceutical companies to find a sustainable solution that ensures patient access, she highlighted the need for flexibility in assessing rare disease therapies and urged all parties to engage in meaningful discussions. A recent study showed life-changing effects of the treatment, and the decision has highlighted inequalities in patient access in the UK. Toni assured families that NPUK remains committed to advocating for equitable access and change.

Session 1: your voice in research: International Niemann-Pick Disease Registry (INDPR)

The first session focused on the International Niemann-Pick Disease Registry (INDPR), featuring Shaun Bolton, MSc, CEO of INDPR, and professor Tarekegn Hiwot, consultant in inherited metabolic disorders and chief medical officer of INDPR. Shaun passionately detailed the development of a global registry for inherited metabolic diseases, emphasising its dual purpose of collecting clinical data and patient-reported data. His presentation highlighted the registry’s current reach, with 492 patients across 25 centres in 13 countries, and its mission to document patient experiences, advance research, and improve health outcomes. He spoke about supporting research through anonymised data on quality of life, seizures, treatment impacts, and disease progression, and mentioned the ongoing NPC survey aimed at understanding patient experiences.

Professor Tarekegn Hiwot, a co-founder of the registry with nearly 20 years of experience in the field, spoke with authority and a deep personal commitment. He recounted the registry’s initial funding by the European Commission and underscored the significance of INDPR being one of the few patient groups with its own registry. He stressed the importance of understanding the natural history and treatment impact of rare diseases and his enthusiasm for returning as chief medical officer to provide strategic guidance. His emphasis was on having a registry run by patients and patient support groups, reinforcing the theme of community-driven progress.

My story: Rafi Berkowitz.

The standout star of the entire day was 11-year-old Rafi from South Africa. The exceptionally eloquent young man spoke about his excitement from being at the conference—his first time meeting anyone else, like him, living with ASMD. He talked about school and growing up in South Africa as a young child living with his condition. He spoke deeply about the fact that ASMD is an invisible disease and credited his parents and friends for being so understanding and championing him. He also spoke about his sadness at the fact that treatment is not guaranteed depending on where you live in the world and shared his hopes for more equitable access in the future.

Exploring quality of life for patients with NPC and their caregivers

Jackson Pountney, Ph.D. researcher from Aston University, Birmingham, presented his research on quality of life in Niemann-Pick type C (NPC) with a combination of academic rigor and compassionate understanding. He explained that quality of life is a subjective and complex concept, not easily observed, and noted the limitations of existing questionnaires in capturing the unique experiences of NPC patients. He detailed the development of two new quality of life questionnaires: an adult version and a children’s version.

Jackson’s research approach was grounded in real-world data, utilising interviews with NPC patients and caregivers to create the questionnaires. He described the launch of an NPC survey in January 2023, designed to collect data from English-speaking countries, and highlighted the survey’s focus on NPC quality of life, general quality of life, symptom severity, unmet needs, and caregiver experiences. His personal motivation stemmed from his previous work with brain injury patients, where he noticed neurological similarities with NPC. His goals were clear: to develop reliable quality of life measurement tools, use these tools in health technology assessments, and support clinical trials and research submissions. He passionately encouraged continued participation in the survey, emphasising its importance in improving data collection and understanding the impact of NPC.

An investigation into the real-world experience of patients with NPC and their carers

Justin Hopkin M.D. chair emeritus, NNPDF; INPDA and INPDR Research Committee, presented a study exploring the global experience of NPC patients and caregivers with a focus on documenting the impact of NPC on daily life, understanding quality of life, and investigating clinical management and patient attitudes towards research. His presentation was marked by a scientific approach coupled with genuine concern for the patient community.

Overview

The second day of the Annual Family Conference and Interactive Workshop on Niemann-Pick diseases was a powerful blend of research, advocacy and community building. The tone throughout the day was consistently collaborative, supportive, and patient-centered, reflecting the strong bonds within the Niemann-Pick community with a reunion of people who had known each other their entire lives, and introducing the next generation of the community to the family. The event served not only as a platform for sharing knowledge and updates but also as a catalyst for action, driving forward efforts to improve treatment access, support families, and advance research for Niemann-Pick Diseases.

The financial support from various organisations, reflects the broader commitment to advancing research and care for Niemann-Pick diseases. This collaborative effort, bringing together patients, families, clinicians, researchers, and industry representatives, is essential for making meaningful progress.

The conference was made possible by the support of NPUK, which relies on donations and grants, and financial support from Azafaros, Cyclo Therapeutics, IntraBio, Sanofi, and Zevra Therapeutics, who provided unrestricted educational grants. The financial support from various organisations, reflects the broader commitment to advancing research and care for Niemann-Pick diseases. This collaborative effort, bringing together patients, families, clinicians, researchers, and industry representatives, is essential for making meaningful progress and showcases the dedication and collaborative spirit of the Niemann-Pick community, driving progress towards better understanding and treatment of these complex diseases.

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