Resources

Description: The interest in engaging with patients across the cycle of research and development of medicines is high, but many stakeholders still do not know how to engage meaningfully and how to expand relationships from information provider to co-creator in healthcare. Here, Nicole Gusset explains how patient experts have disease-specific expertise, as well as technical knowledge in research and development and/or regulatory affairs through training or experience, making them important strategic partners in the value-assessment processes of new technologies.

Author: Nicole Gusset

Link to paper: Importance of Patient Involvement in the Value Assessment Process: On the Way Towards Personalised Treatments

This audio presentation has been developed in collaboration with Tina Duong, to help support families who, during the COVID-19 pandemic, might have less access to physiotherapy support. Tina is a research physical therapist at Stanford in the US, with over 15 years of clinical experience in evaluating, treating and supporting patients with neuromuscular disease.

Information about other topics

• What to expect from a lumbar puncture

Agenda

1. Welcome and introduction by SMA Europe
2. Opening remarks by Mr. Cyrus Engerer, Member of European Parliament, Malta
3. Roundtable participants will discuss the importance of newborn screening for SMA:
   • Dr. Stelios Kympouropoulos, Member of European Parliament, Greece
   • Mrs. Marie-Christine Ouillade, Chair of SMA NBS Alliance Steering Committee, SMA Europe, AFM Telethon
   • Ms. Jana Popova, patient advocate with EAMDA, European Patients Forum
   • Professor Eduardo Tizzano, Head of Pediatrics and Director Department of Clinical and Molecular Genetics, Hospital Universitari Vall d’Hebron
4. Video message from Ms. Claudia Gamon, Member of European Parliament, Austria

The event was moderated by Dr. Andreas Reimann, Co-founder and managing partner, admedicum

Following the 2017 approval of a first SMA treatment by the European Medicines Agency, SMA Europe launched a Europe-wide survey with the goal of understanding patients’ treatment expectations, realities of daily living and access to clinical trials and therapy and how this varied according to parameters such as age and disease severity.

A response rate of 31% yielded 1474 completed surveys from 26 European countries. In line with findings from a 2015 SMA Europe-led survey, participants considered stabilisation of their condition to be progress. Notably, responses indicated that the current classification of SMA at diagnosis by ‘type’, often does not reflect current mobility level. Large gaps in treatment access were identified that varied in particular between age and disease severity groups, yet there was high interest in clinical trial participation. In addition, alternative treatment options, including combination therapies, are now expectations.

These perspectives should be central considerations through the research and development processes of new SMA therapies, through data generation and discussions on access to therapies. Results from this survey indicate that collaboration between stakeholders is essential to the foundation upon which innovative approaches for SMA treatments and access can be explored.

Authors: Nicole Gusset, Caroline Stalens, Eva Stumpe, Lori Klouvi, Alexandre Méjat, Marie-Christine Ouillade and Mencía de Lemus

Link to the full paper: Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy

This information booklet is the first of three and has been written for healthcare professionals wishing to ready their centre for running or expanding clinical trials in SMA.

Authors: Marija Krstic and Vanessa Christie-Brown

Download: Spinal muscular atrophy: pathology, diagnosis, clinical presentation, therapeutic strategies and treatments