A rare disease, as defined by the WHO, is one that affects fewer than one person in every 1,000 and is typically deadly. However, each country has its own definitions that are suited to its needs, taking into account aspects like the population, healthcare system, and resource availability. Over 1,800 drugs are undergoing clinical trials in various phases of development including preclinical and investigational drugs, with majority of them targeted at oncology, followed by central nervous system, genetic, metabolic, haematological and respiratory disorders. This FAQ delves into the promising developments in the field of CNG treatment, focusing on innovative therapies, clinical trials, and their potential impact on patient outcomes. DOWNLOAD THE FULL WHITEPAPER HERE

What is the Current Drug Approval Status?

More than 300 drugs have been marketed as orphan drugs for various rare disease indications, in several global locations since the last decade. Of the several molecule types, monoclonal antibodies are the most common form of rare disease drugs. Other top molecule types include recombinant proteins, blood derivatives, synthetic peptides, fusion proteins, monoclonal antibody conjugated, cell and gene therapies, and oncolytic virus drugs. There are over 100 orphan drugs being marketed for oncology, and close to 75 for haematological disorders. Therapeutic areas having more than 40 marketed drugs include Immunology, infectious disease and metabolic disorders.

What is the Rare Diseases Landscape in Europe?

Conditions with fewer than 50 cases per 100,000 people are considered rare diseases in the European Union. In Europe, public health priorities for rare diseases are growing. Approximately 6,000 different rare diseases have been identified, and they can affect every organ system. Most rare conditions have a chronic history and genetic basis in more than 70% of cases. More than 30 million individuals in the European Union are thought to be affected by rare diseases as a whole. 

What is the Rare Diseases Landscape in the USA?

Over 10,000 rare diseases have been diagnosed, with one in ten affected in the US, there by affecting about 30 million Americans in all, with a vast majority of cases, arising due to single gene mutations. These conditions are known as rare genetic disorders and as many of these genetic changes are inheritable, they tend to run in families. Cystic fibrosis is a classic example of a rare disease brought on by mutations in a single gene.

What is the Rare Diseases Landscape in the Asia-Pacific?

In 2020, close to 260 million people in the Asia-Pacific region were affected by rare diseases, with children making up around half of those. The region faces multiple challenges in rare disease management due to limited studies and data, limited capacity and capability for diagnostics, limited health coverage and funding, compounded by a limited accessibility and affordability to treatment.

What is the Global Situation?

The prevalence of rare diseases in the general population has been estimated to be 3.5%-5.9%, corresponding to around 260-440 million people globally at any given moment. This enormous figure highlights the importance of rare diseases as a category, especially given the significant unmet medical need in the diagnosis and clinical management of these conditions. Although the category of rare diseases is diverse, the diseases have common aspects and barriers, such as a lack of knowledge, a paucity of experts, delayed diagnosis, a chronic disease compounded by a lack of cure. 

What are the Leading Therapeutic Areas?

The top orphan drug therapeutic area has consistently been oncology, while blood (haematological disorders), central nervous system, infectious diseases, respiratory, and gastrointestinal are some of the therapeutic areas accounting for majority of the non-oncology orphan drug market.

What are the Major Indications?

The major indications in the Orphan drug market are PNH, Multiple myeloma, and Chronic lymphocytic leukaemia (CLL). Non-Hodgkin lymphoma (NHL) indications received the most orphan drug designations globally, followed by acute myeloid leukaemia (AML) and pancreatic cancer.

What is the Clinical Trial Status Globally?

The number of clinical trials in rare diseases has grown significantly from the last 5 years (2018-2022) to close to 16,000 globally. More than 500 orphan designated drugs are commercially available worldwide for various rare diseases, out of which oncology has the most drugs, followed by haematological and other disorders. 

More than 45% of drugs in development are biologic drugs. 

The distribution of global clinical trials for rare diseases between 2018 and 2022 was as follows: 

  • APAC (Asia-Pacific) 38%
  • North America and Europe combined 53%
  • The rest of the world (ROW) 9%

What are some of the Rare Diseases Challenges?

Conducting clinical trials for rare diseases is not without challenges and securing the right clinical partner from the start is key to success. The rarity of these conditions can pose difficulties in patient recruitment, often necessitating international collaboration to gather enough participants. Regulatory complexities, variable disease presentations, and the need for robust trial designs add further layers of intricacy to the process. 

Patient advocacy groups play a pivotal role in championing research, ensuring that the voices and needs of those affected are heard.

What is the Future?

As researchers, organizations, and governments collaborate to advance research, the future holds promise for ground-breaking treatments that have the potential to rewrite the narratives of countless lives. The growth trends, global collaborations, funding landscapes, and recent approvals signal a pivotal era in rare disease research, where hope and progress prevail.