A Race against Time. E-Book

Cléa Stémitsiotis

• Herausgeber: Fondation Ipsen Press
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 64

Veröffentlichungsjahr: 2025

Beschreibung

Making medicines is complex and, requires meticulous research, innovative thinking, and unwavering dedication. In the realm of rare diseases, this journey is even more complex because the illnesses are so rare. Even rare disease experts often do not know how to help their patients. We need more treatments because 90% of people living with rare disease do not have an effective treatment.

This book explores the steps involved in making medicines. It is our response to requests from the rare disease community. There is an urgent need to understand how medicines are created so that patients and those who care for them can advocate with greater clarity and louder voices. We hope you find this book useful.

ABOUT THE AUTHORS

James A. Levine, PhD, MD, MBA, Professor Dr. Levine, President Fondation Ipsen, has three decades of experience in the healthcare sector principally at Mayo Clinic. For the last 6 years he has been President of Fondation Ipsen, an international science founda- tion focused on biotech innovation in Rare Diseases. A physician and scientist, James has published more than 200 articles, six papers in Science and Nature plus articles in journals such as, the New England Journal of Medicine, Lancet and JAMA. He has written four books published in 19 languages in 37 countries. His business training, focused on entrepreneurship, was from Harvard Business School. With a background in wearable technologies, data gathering and data analytics, and with more than 100 patents and trademarks, Levine helped found 35 companies. He was the Innovator of the Year in the state of Minnesota, the World Trade Fair and NASA. Under the Mayo Clinic NEAT Trademarks, Levine’s team delivered scalable health solutions to 72 US corporations. A great deal of James’ work focusses on biotech development, scalable health solutions and business opportunities in underserved regions in the United States, France and low/middle countries such as the Democratic Republic of Congo, Cote d’Ivoire, Afghanistan, Jamaica, Asia, Kenya and India. Consulting to the President of the United States, the US State De- partment, US Army and internationally, James in 2018 was awarded the President’s Medal for promoting social embeddedness. 300 million people live with rare diseases without effective cures. Sus- tainable solutions require the efficient use of capital to optimize biotech- nology companies, maximize impact and minimize suffering.




Cléa Stémitsiotis holds a Bachelor's degree in Management from the London School of Economics and a Master's degree in Economics and Business from Sciences Po Paris. She works on impact assessment and innovative financing for rare diseases.

Leseprobe

Cover

Authors for correspondence:

Cléa Stémitsiotis, MSc

James A. Levine, MD, PhD, Professor

Fondation Ipsen65 Quai Georges Gorse, 92100 Boulogne Billancourt, France

Cléa Stémitsiotis holds a Bachelor’s degree in Management from the London School of Economics and a Master’s degree in Economics and Business from Sciences Po Paris. She works on the impact evaluation of Fondation Ipsen and innovative finance for rare diseases.

James A. Levine, MD, PhD, Professor, is President of Fondation Ipsen. He is a serial entrepreneur, scientist and physician, trained in business at Harvard Business School.

Title

Contents

Introduction

Summary

Understanding Rare Diseases

Target Identification and Medicine Discovery

Medicine Design and Development

Preclinical testing

Focus on the Orphan Drug Designation

Clinical trials

Regulatory Approval and Post-Marketing Considerations

Patient Access and Support

Focus on Milestones for Rare Disease Companies,

Relationships with Regulators, and Investors

Conclusion

Acknowledgements

References and additionnal resources

Introduction

Making medicines is complex and, requires meticulous research, innovative thinking, and unwavering dedication. In the realm of rare diseases, this journey is even more complex because the illnesses are so rare. Even rare disease experts often do not know how to help their patients. We need more treatments because 90% of people living with rare disease do not have an effective treatment.

This book explores the steps involved in making medicines. It is our response to requests from the rare disease community. There is an urgent need to understand how medicines are created so that patients and those who care for them can advocate with greater clarity and louder voices. We hope you find this book useful.

How to use this guide

The purpose of this guide is to explore the steps involved during the rare disease medicine development process. It is not a comprehensive science textbook but rather a ‘quick read’. Each chapter is short and designed to be read in 5-10 minutes.

Summary

Rare diseases, also known as orphan diseases, are a diverse group of medical conditions that affect a small number of individuals within the population. In the European Union, a disease is considered rare when it affects fewer than 1 in 2,000 people. In the United States, a disease is considered rare when it affects fewer than 200,000 people in the country. These diseases are often characterized by a combination of complex, debilitating, and life-threatening symptoms. Due to their low prevalence, rare diseases pose unique challenges in terms of diagnosis, treatment, and research efforts.

The development of medicines for rare diseases presents unique challenges due to the limited patient population, complex disease mechanisms, and often high unmet medical needs. These rare diseases, affecting a small percentage of the population, are financially unattractive for pharmaceutical companies. However, thanks to advancements in scientific research and regulatory incentives, there has been progress in creating medicines specifically tailored to address rare diseases.

This book explores the specialized journey of developing medicines for rare diseases, highlighting some key aspects and considerations involved in this process. The dimensions below will be explored in the following chapters:

1.Understanding Rare Diseases

Developing medicines for rare diseases begins with a deep understanding of the disease itself. Rare diseases encompass a wide range of conditions, each with its own unique characteristics and challenges. Scientific research focuses on unraveling the underlying mechanisms of these diseases, including genetic, molecular, and cellular aspects. This understanding provides insights into potential targets for therapeutic intervention.

2.Target Identification and Medicine Discovery

In this stage, researchers identify specific biological targets that play a crucial role in the rare disease. Once the target is identified, the next step is to discover potential medicine candidates, also known as hits, that interact with the target and show promising biological activity: High-Throughput Screening (HTS) and Virtual Screening are employed to identify potential compounds or molecules that interact with the target and show promising biological activity. Techniques such as structural biology provide insights into the three-dimensional structure of the target, aiding in rational medicine design.

3.Medicine Design and Development

Researchers utilize various strategies to develop medicine candidates. For traditional medicines, this may involve medicinal chemistry, structural optimization, and formulation development. However, medicine discovery for rare diseases often requires innovative approaches due to limited knowledge and understanding. Researchers may explore repurposing existing medicines, developing gene therapies, utilizing RNA-based therapeutics, or applying advanced technologies like gene editing and cell therapy to target the specific rare disease.

4.Preclinical Testing

Preclinical testing is a critical step in the development of medicines for rare diseases before advancing to human trials. It involves rigorous laboratory testing using in vitro and in vivo models to assess the safety, efficacy, and pharmacokinetic properties of the medicine candidates. Animal models, such as genetically modified mice or other organisms, are used to simulate the disease condition and evaluate the medicine’s therapeutic potential. These studies provide essential data to support the progression of promising medicine candidates to clinical trials.

5.Focus on the Orphan Drug Designation

To incentivize the development of medicines for rare diseases, regulatory authorities around the world, such as the Food and Drug Administration (FDA) in the United States and the European Medicines Agency (EMA) in Europe, provide orphan drug designation. This designation grants certain benefits to pharmaceutical companies, including extended market exclusivity, regulatory fee waivers, and access to research grants. Orphan drug status encourages investment in research and development efforts for rare diseases.

6.Clinical Trials

Clinical trials are research studies conducted with human participants to evaluate the safety and efficacy of medicines or treatments. Clinical trials involving rare disease medicines face unique challenges due to the limited number of eligible patients related to patient recruitment, outcome measures and trial design. Researchers often rely on collaborations, natural history studies, and adaptive trial designs to address these challenges and advance clinical research for rare diseases.

7.Regulatory Approval and Post-Marketing Considerations

Following successful clinical trials, the pharmaceutical company submits an application for regulatory approval to the relevant regulatory authorities. In the case of rare diseases, regulatory agencies often offer incentives and expedited pathways to encourage the development of treatments for these conditions. Once approved, the medicine can be marketed and made available to patients. Post-marketing surveillance continues to monitor the medicine’s safety and effectiveness in a broader patient population.

8.Patient Access and Support

Ensuring patient access to medicines for rare diseases is a critical aspect of the medicine development process. Pharmaceutical companies, patient advocacy groups, and healthcare providers collaborate to raise awareness, improve diagnosis, and facilitate access to the medicine for affected individuals. Support programs, patient assistance programs, and reimbursement mechanisms are often implemented to assist patients in accessing and affording these specialized treatments.

9.Focus on Milestones of Medicine Development for Rare Disease Companies, Relationships with Regulators, and Investors

Companies focused on rare diseases undergo a challenging journey to develop medicines for rare diseases, from the early stages of research and development all the way to patients getting access to the medicine. Companies engage with regulatory authorities throughout the medicine development process, including IND submissions, during the NDA review process, and post-marketing. Different types of investors step in during the company’s life to provide the necessary funding to complete each milestone.

1

Understanding Rare Diseases

Developing medicines for rare diseases begins with a deep understanding of the disease itself. Rare diseases encompass a wide range of conditions, each with its own unique characteristics and challenges. Scientific research focuses on unraveling the underlying mechanisms of these diseases, including genetic, molecular, and cellular aspects. This understanding provides insights into potential targets for therapeutic intervention.

1.Gathering Information about Rare Diseases

Gaining knowledge about rare diseases involves collecting data from various sources, including scientific literature, clinical observations, patient registries, and international collaborations. Researchers, healthcare professionals, patient advocacy groups, and regulatory agencies