Drug development and collaboration with networks specializing in rare diseases –


There are currently an estimated 300 million people living with one or more rare diseases worldwide. There are over 7,000 rare diseases that have been identified, but only 5% have treatments.

However, despite the work that remains to be done, there are now an increasing number of treatments underway and 2020 has turned out to be a remarkable year for orphan drug approvals, with the US FDA approving more designated orphan treatments than drugs. not orphans.

During a recent webinar hosted by pharmaphorum, in partnership with IQVIA, a discussion took place on how to make academic and commercial medical research more efficient, while examining the desirability of genomic data to bring benefits to patients. and health systems.

Dr. Jeff Keefer, vice president and head of the IQVIA Center of Excellence in Pediatrics and Rare Diseases, was one of three panelists at the webinar, and he said what makes the space unique, c ‘is “the strength and depth of the relationships that form within the rare disease community.

During the webinar, Keefer explained how specialist sites, with in-depth knowledge of one or certain groups of rare diseases, are crucial in advancing drug development to advance the number of treatments available for patients with the disease. rare diseases and provide support for them. people.

Additionally, the work done within rare disease networks, made up of specialist sites, pharmaceutical companies, CROs, researchers and other stakeholders, can all benefit from the value generated by real-world genomic data, as highlighted by panelist Dr Joanne Hackett, Head of Genomic and Precision Medicine at IQVIA.

Subtitle: The challenges in the service of patients

The multidimensional approach to helping people living with a rare disease is necessary due to the complexity of the challenge encountered in developing treatments in this area. Even when there are effective treatments on the market, patients will often have to wait a long time to receive an accurate diagnosis. Once this point is reached, it can still be difficult to get the right treatment for the patient.

Dr Keefer pointed out that many people will see a number of different doctors before receiving this diagnosis, while still being without effective treatment, which can leave these patients frustrated and isolated. There are currently very few expert centers around the world specializing in rare diseases, which means that access to those best placed to diagnose and recommend a specific therapy is limited.

This brings us back to the barriers to developing effective treatments. One of the factors is the lack of substantial data on rare diseases, which makes understanding specific diseases very difficult. There is also the problem that patients who present with the same disease may be located in opposite parts of the country or the world.

As rare diseases are not bounded by borders, this presents international health systems with a challenge and an opportunity: greater coordination at European and international levels could help overcome the fragmentation of knowledge and support that exists to support them. people living with a rare disease.

Progress is being made

Progress has been made in this area in recent years, both with the European Union (EU), through Regulation (EC) No. 1901/2006, and the United States, through orphan drugs law, enacting legislation to encourage the development of therapies for rare diseases. During its presentation, Dr Jean-Meidi Alili, senior pharmacist at G2M, has shown that the number of requests for orphan drug designation has skyrocketed in Europe since the regulation came into force.

Along with the progress made in the development of treatments, there has also been the establishment of specialized sites that offer support to patients and families. Specialized sites are able to provide specific information about a rare disease or a particular group of rare diseases, as well as general information, such as details on treatments, as well as access to expert doctors and studies. clinical research. More and more, these specialized sites are now grouped into networks, for example in Germany and Europe:

Dr Keefer explained what these networks bring to rare disease research: “They allow, for example, the cost of infrastructure to be shared across the entire network, they establish uniformity in data collection and often house and maintain important registries for individual illnesses. They make meaningful, large-scale research into rare diseases possible in ways that individual researchers simply could not.

An example of a Rare Disease Network is the work carried out at G2M with Dr Alili, which is a care network for patients with Rare Metabolic Diseases. The network is focused on working in Europe to provide research, information, diagnostics and ethical considerations to people living with such conditions.

Dr Alili explained that the network is made up of a diverse set of members, which includes clinicians, biologists, researchers and patients, with the network facilitating a range of research from preclinical to clinical research. In addition to providing access to several centers where trials take place and where evaluations are made of the actual safety and efficacy of treatments.

The potential to leverage genomic data

Another angle through which drug development for rare diseases can be enhanced is to harness the technological advancements that have taken place in recent decades, with a focus on genomics. The cost of genomic sequencing has dropped dramatically from around $ 1 million in 2007 to less than $ 1,000 today. At the same time, more genetic data is being collected by health systems and businesses, allowing for more sophisticated analysis and potential use.

According to Dr. Hackett, there are many benefits that can be derived from genomics, including improved diagnostics for patients, better understanding of drug resistance and action, more accurate prediction of disease progression, and ability to plan combination therapies. By 2025, it is expected that 70 million genomes will be sequenced; a factor which, according to Dr Hackett, could mean that rare diseases “are potentially not as rare as we think … and with this additional information, we are going to be able to accelerate this area more quickly”.

Regarding how this information might be applied in a clinical setting, Dr Hackett pointed out that genomic research can be applied at all stages of a drug’s development: from the discovery stage to where it can be used. for target identification or drug reuse until pre / post launch where it can be used to identify prevalence of mutations for market sizing for personalized treatments and to support regulatory submissions.

Bring stakeholders together

The larger challenge will now be to bring these approaches together in a unified system. It’s work that IQVIA is already advancing, but a greater collaborative strategy that can bring pharmaceutical companies, academics, and contract research organizations (CROs) closer together in a closer working environment has the potential to do. dramatically advance drug development for rare diseases.

Dr Keefer concluded: “I think each group brings unique strengths to this partnership. We certainly see this model in the Children’s Oncology Group (COG) and in other fields, such as pediatric rheumatology and pediatric gastroenterology, where very strong academic networks are established. Getting these groups to work together has incredible potential, and cooperation will be key here to ensure that we don’t end up “tripping over each other” as we strive to achieve the same end goal. “

The same goes for existing specialized sites, effective as stand-alone sites, but which will benefit from the increase in shared expertise once they are grouped together in a network. As genomic data is collected in increasingly large geographic and ethnic areas, the possibility of working as part of a global network should push research into rare diseases even further. The end goal is to unlock therapies for the many people living with a rare disease who currently do not have access to treatment.

About the panel:

Dr Jean-Meidi Alili is a senior pharmacist in charge of Medicines and Research within the French health network for rare metabolic diseases (G2M), where he notably participates in the establishment of a drug observatory and two “one-stop shops” in research and pharmacy. Previously, he was a pharmacist in the Pharmaceutical Establishment division of the Parisian hospital group AP-HP, where he was project manager for the development of an orphan drug and pharmaceutical referent for publicly funded clinical studies.

Dr Jeff Keefer is Vice-President and Head of the Center of Excellence in Pediatrics and Rare Diseases at IQVIA. He is also a consultant in hematology to the NICU and the Department of Genetics and co-director of the NIH / Johns Hopkins Fellowship Program in Pediatric Hematology / Oncology. A certified pediatric hematologist / oncologist, Jeff has 12 years of academic experience in the Johns Hopkins University School of Medicine. His academic and clinical studies focus on benign hematology, where he is particularly interested in sickle cell anemia, hemophilia and other rare blood disorders.

Dr Joanne Hackett is the Head of Genomic and Precision Medicine at IQVIA and previously was Commercial Director at Genomics England. She is a clinical scholar, entrepreneur, investor and strategic and creative ‘visionary’ with global experience ranging from successful start-ups to Fortune 500 companies. Joanne’s goal is to help bring healthcare solutions to the world. innovative, cost-effective and simple health care systems, and she is particularly keen to advocate for prevention, open science and citizen genomics.

Dominique tyerModerator: Dominique tyer is Acting Editor-in-Chief at pharmaphorum. He has over 20 years of experience in pharmaceutical and medical publishing and is also Creative and Editorial Director at pharmaphorum connect, a consulting company specializing in corporate health content.


Comments are closed.