Fostering innovation for rare diseases in Europe: Chiesi supports the RDR Challenges Call

Although individually infrequent, the more than 10,000 rare diseases represent a major issue in health care. While they affect up to 30 million people in Europe, research in the field of rare diseases is hampered by the specificities of complex clinical phenotypes or the scarcity of data. Tackling this challenging field requires innovative solutions and interdisciplinary cooperation at a transnational scale. Thus, the interest in innovation does not stop at one´s own front door and only collaboration across stakeholders can crack the rare disease challenge. Chiesi is committed to giving      hope to people living with rare conditions bringing innovative pharmaceutical solutions to rare patients, supporting them with dedicated services, and being part of a growing community of researchers collaborating in the field.

Collaboration is key

In fact, when it comes to rare disease research programs, it is critical to promote and maintain internal and external partnerships. Chiesi Global Rare Diseases believes that fostering public and private research collaborations around rare and ultra-rare diseases is paramount to generate      critical scientific and medical knowledge on these often-neglected conditions to enable the identification of new medicines. As B-Corp certified pharmaceutical company, Chiesi invests in multi-stakeholder collaboration as a crucial pillar of its commitment to society and the environment. One of the most recent examples is its participation in the Rare Diseases Research (RDR) Challenges Call.

The RDR Challenges Call was initiated by the European Joint Programme on Rare Diseases (EJP RD). The consistency program involves over 130 institutions from 35 countries. It combines funding from the European Community and from industry partners to solve specific research challenges in the field of therapeutic development and to facilitate collaborative projects between industry, academia, small and medium-sized enterprises, and patient organisations.

In 2020, representatives from nine pharmaceutical companies participated in a first workshop to pinpoint potential RDR challenges. Not an easy task, given the fact that there is much unmet need for people affected by rare diseases. In the end, an independent committee selected four areas of interest and identified one project for each field which the grant applicants and the involved industry partners now jointly address. Chiesi has been involved in the initiative from the very beginning, helping to set up the call and identifying two out of 3 challenges. Today, the company is one of three industry sponsors that support granted programs through financial contributions and in-kind collaboration throughout the project.

Challenge 1: a toolbox to measure rare disease patient mobility in daily living

The first challenge, co-funded by Chiesi together with CSL Behring, is dedicated to the development of a non-invasive toolbox that measures patient mobility in daily living. Although tremendous progress has been made in this regard in the last few years, there is still a strong need to obtain disease-related information that generates fundamental clinical and patient-relevant outcomes accepted by regulators. Such data can be harnessed through digitised means using hardware such as wearable devices, sensors, and smartphone apps. For example, movement sensors in the patient’s home, on his body, or in the wheelchair can assess general movements whilst distinguishing between the patient’s voluntary and involuntary actions.

The development of novel clinical outcome assessments has the potential to facilitate the drug development process across rare diseases and support the improvement of the quality of life for patient care and clinical outcomes. The remote evaluation of patient movements can also reduce travel to study sites and hereby increase patient access to research studies.

The DT4RD (Digital Tool for Rare Diseases) project brings together a multinational consortium consisting of Aparito, a UK-based health tech company that specialises in unlocking real-world data, the Paris Institute of Myology, the John Walton Muscular Dystrophy Research Centre at Newcastle University, Yumen Bionics, Metabolic Support UK, along with the two industry partners, CSL Behring and Chiesi Pharmaceuticals. Beyond funding, in this project, Chiesi is helping the research consortium in defining the technical and regulatory requirements to be met, as well as providing its experience in involving patients in the design and conduct of clinical trials.

The DT4RD project started in January and will be completed in July 2024. A final prototype of the measurement toolbox     , including requirements analyses, software programming, fine-tuning, and preliminary testing will be tested in a clinical trial that aims to start recruiting at the beginning of 2023.  

Challenge 2: a device to allow safe and efficient treatment of newborns

The second programme, co-funded by Chiesi, focuses on one of the biggest challenges in rare diseases: the efficient delivery of therapeutic agents into the central nervous system (CNS) to target neurological symptoms. In particular, this programme is focused on neonatological conditions affecting the newborn brain. There are many rare conditions of newborns that affect the CNS and require babies to be medically assisted with drugs delivered in the brain.

To that end, EVEON, a designer and manufacturer of medical devices for the preparation and delivery of drugs, responded to the challenge launched by Chiesi and the RDR program by building up a consortium of specialized researchers and designing the winning project Indeneo. The acronym stands for IntraNasal DEvice for NEOnates and captures the intention of the programme in scientific vocabulary. It was designed to develop a delivery system from the nose to the brain for the treatment of newborns with biological and advanced therapy drugs.

Currently, the efficient delivery of many drugs to the CNS can occur only via invasive routes that bypass the blood-brain barrier, such as injections that deliver directly into the brain to the cerebrospinal fluid. Unfortunately, the use of such techniques is daunted by a high risk of brain infections. Conversely, intranasal delivery systems have the potential to allow safer and more targeted treatments. However, this administration route is still of limited efficiency for proteins and gene/cell therapies and most of the current devices are unsuitable for use in the tiny and delicate nostrils of newborns, especially when premature.

The Indeneo project brings together an international consortium of four partners: Eveon, the lead applicant, Chiesi, which contributes with its expertise in pharmaceutical development and neonatology, a clinical partner (Les Cliniques Saint Luc), and the CEA, which focuses on pre-clinical testing. The project started last April and will continue until October 2024. Within this timeframe, two main deliverables are set: the design and development of a functional prototype and its pre-clinical validation, making it ready for clinical testing at the end of the project.

Though challenges have been identified, goals have been set, the groundwork has been laid, and the work has begun. What started in March 2020 with the identification of the challenges is expected to show tangible results within 30 months with the ultimate goal to benefit patients and their loved ones and contribute to enabling them to live better, more fulfilling lives.