During the period:

• An initial meeting for the PPIE advisory group and the leads of work package (WP) 1, 4 and 5 was held to introduce the group to the project (December 2023).
• Terms of reference for the group were agreed following the initial meeting.
• Individual WP-specific meetings were then held in February (WP1 and WP5) and March (WP4) 2024.
• WP1 meeting: discussion points included the following themes, and ARDAT’s potential roles: communication and sources of information for patients about gene therapies; trust and building relationships. Specific feedback on the ARDAT website was also provided. The ARDAT team updated the website in response and fed back to the PPIE advisory group.
• WP5 meeting: communication around regulation was discussed and the need for patient input to the planned 2025 HTA workshop. Specific feedback on the patient flyer was provided by the advisory group.
• WP4 meeting: discussion points included the processes that individuals must go through when providing samples; wording to improve recruitment of ‘healthy volunteers’; consent/assent for children. Specific feedback on the template participant information sheet and consent form was provided by the advisory group. The WP4 leads also indicated that members of the group could join the Data and Sample Access Committee when it is established.

For more PPIE information or ways to get involved please contact:

Amy Hunter, Director of Research at Genetic Alliance UK, amy@geneticalliance.org.uk

Rachel Waller, ARDAT Project Manager, r.waller@sheffield.ac.uk

The Panel Discussion was chaired by Professor Dame Pamela Shaw (USFD) and involved families and rare disease patients already dosed with gene therapies or awaiting to be treated. Attendees included members of the public, academics and industry.

Panel participants:

Mrs Dharmisha Stezaly

Mum to Sebastian who received a treatment of Zolgensma^® for his spinal muscular atrophy (SMA) in 2021. SMA is a childhood form of motor neuron disease. Researchers at Sheffield demonstrated restoration of the missing SMN protein using gene therapy replacement. This pioneering preclinical work provided the confidence for pharma companies to invest in human gene therapy trials which led to FDA approval of Zolgensma^®.

Mr Giles Lomax 

Giles has been the CEO for SMA UK since May 2023 having worked in sport for the last 13 years, Giles has taken his leadership skills and transferred this into lead the charity into its next phase developing a 4-year future focused strategic plan to support anyone affected by Spinal Muscular Atrophy. Giles also brings a deep understanding of the physical and emotional impact on people who are living with SMA, being a father of twins who have SMA type 2.

Mrs Carina Thurgood

Maddi’s mother, Co-Founder of the Maddi Foundation in 2016 as the ‘Save Our Maddi Appeal’. The Maddi Foundation emerged in response to Madeleine Thurgood’s diagnosis of Hereditary Spastic Paraplegia 15 (SPG15).

Carina passionately advocated for raising awareness of SPG15, driving the Foundation’s commitment to advancing research and developing Gene Therapy for this rare genetic disease.

Miss Madeleine Thurgood

Maddi was diagnosed with Hereditary Spastic Paraplegia 15 (SPG15) in 2016. SPG15 is a rare disease caused by nerve injury in parts of the brain. People with SPG15 can experience progressive muscle weakness, leading to difficulty walking and becoming wheelchair dependent. They can also lose the ability to use their arms and additional symptoms such as dementia or juvenile Parkinson’s. Some individuals with SPG15 also have problems with the retina in the eyes, this can cause visual impairment and can affect quality of life. The severity of each of these symptoms is variable in affected individuals.

Mrs Kasey Edwards – Co-founder of CureAP4, Boston, USA

Kasey, co-founder CureAP4 in response of diagnosis of her daughter, Robbie Edwards, for Hereditary Spastic Paraplegia 47 (SPG47).  She is the Community Relations Coordinator at CureAP4. Kasey utilises meaningful research-centred communications and patient-community engagement to drive therapeutic and resource discovery to enhance the quality of life for HSP47 patients and families.

Mr Sean Davies

Sean is 54 years old and works as a tree and landscape officer for Newark and Sherwood district council (NSDC).  He is very fit and athletic. His great great grandfather was John Firth who was a major supporter of the University of Sheffield and the hospital in Sheffield and a key University building is named in his memory.  Sean has a familial neurological condition and is very pleased to have access to the new genetic therapy tofersen.