Rare diseases, also known as orphan diseases, are health conditions that affect a relatively small number of people compared to more common diseases. The definition of a rare disease varies globally, with the USA defining a disease as rare if it affects 6 in 10,000 people, while India defines a rare disease as one that affects 2 in 10,000 people. Despite their rarity, rare diseases collectively affect millions of people worldwide and pose significant challenges in diagnosis, treatment, and research.

The focus of this newsletter is to delve more into the segment of rare diseases and how 1Lattice can provide better insights and support pharmaceutical organizations with epidemiological profiling and market assessment of rare diseases.

Our flagship product, 1nsights consistently takes center stage in our partnerships, helping us gather strategic and insightful knowledge in this dynamic industry.

Rare disease research presents distinct challenges due to its inherent nature. While new rare diseases are continually being discovered and documented in medical literature, the limited number of affected individuals results in a scarcity of epidemiological data. This data scarcity complicates and inflates the cost of research efforts. Additionally, the lack of a substantial patient population means that these diseases typically do not attract significant investment from pharmaceutical companies, resulting in either a lack of available treatments or treatments that are prohibitively expensive.

For instance, the ICMR National Registry for Rare and Other Inherited Disorders (NRROID) indicates that India has over 7,000-8,000 rare diseases, but less than 5% have therapies available to treat them.

Rare diseases can be classified into three distinct groups based on their treatment characteristics and requirements. Group 1 comprises rare diseases that can be effectively cured with a single treatment intervention. These conditions offer the potential for a complete recovery or significant improvement without the need for ongoing treatment. Rare diseases in the Group 2 category necessitate ongoing or lifelong treatment but generally have lower associated treatment costs.

These conditions require regular surveillance, typically on an annual basis or more frequently. Group 3 includes rare diseases for which a definitive treatment exists, but several challenges hinder its widespread application. These challenges may include the need for careful patient selection to ensure treatment efficacy, very high treatment costs, and the requirement for lifelong therapy. Diseases in this category often pose significant economic burdens on healthcare systems.

Understanding these classifications can help prioritize research, funding, and treatment strategies for different rare diseases, ensuring that patients receive the most appropriate and effective care tailored to their specific condition.

India is witnessing a heightened emphasis on the development of treatments for rare diseases. This escalating demand for therapeutic solutions has been acknowledged and addressed with the introduction of India's first National Policy on Rare Diseases 2021 on March 30, 2021, which lays out India’s approach to the prevention and management of rare diseases. Its objectives include reducing the costs associated with treating rare diseases, fostering domestic research initiatives, and envisioning the establishment of a national hospital-based registry for rare diseases. This registry aims to provide comprehensive epidemiological data to facilitate the definition and execution of necessary research and development efforts in the field of rare diseases.

Further, rare disease therapies are also supported by the recently released Production Linked Incentive Scheme 2.0 for Pharmaceuticals, with an outlay of INR 15000 Crore (~$ 2 Bn). This is a welcome sign for Indian drug manufacturers as the government is now providing financial stimulus to orphan drug development under Category 1 of pharmaceutical goods in the Production Linked Incentive (PLI) Scheme. The central drugs regulator, CDSCO, has also made provisions for fast-track processing of applications for rare diseases drugs under New Drugs and Clinical Trials Rules, 2019 for drug trials and experimental therapies and has exempted the application fee of potential drug candidates.

Thalassemia, the second most common rare disease in India, is an inherited blood disorder characterized by the body's production of abnormal hemoglobin, a protein in red blood cells responsible for carrying oxygen. This disorder leads to the excessive destruction of red blood cells, resulting in anemia, a condition where the body lacks enough healthy red blood cells. There are different types of thalassemia, including alpha and beta thalassemia, each with varying subtypes that determine the severity of symptoms and outlook.

Symptoms of thalassemia can range from mild to severe and may include bone deformities, dark urine, delayed growth and development, excessive tiredness and fatigue, and yellow or pale skin. Diagnosis often involves blood tests like complete blood count (CBC) and hemoglobin electrophoresis to differentiate between the types of hemoglobin present. Consanguineous marriage increases the risk of thalassemia as it raises the likelihood of inheriting the genetic mutations associated with the condition.

Thalassemia is a significant health burden in India, with over 42 million carriers of ß (beta) thalassemia trait. Untreated thalassemia can result in complications such as heart failure, liver dysfunction due to iron accumulation, systemic iron overload affecting multiple organs, and heightened susceptibility to infections. Its management necessitates regular blood transfusions and iron chelation therapy, imposing a substantial burden on healthcare services.

The humanistic burden is also substantial, with patients experiencing chronic pain, loss of physical fitness, and deteriorating quality of life into adulthood. The economic burden of thalassemia in India is notable, with direct medical costs being the main driver of total costs, including blood transfusion and iron chelation therapy as the most expensive components of direct medical costs.

Thalassemia treatment aims to manage symptoms and complications, improve quality of life, and increase life expectancy. The primary treatment approach is blood transfusion therapy, supplying patients with red blood cells that have normal haemoglobin levels. The frequency of transfusions varies based on the patient's condition. These frequent blood transfusions can result in the accumulation of iron, leading to severe complications.

To address this issue, iron chelation therapy is administered. Another approach is Hematopoietic Stem Cell Transplant (HSCT), which replaces faulty blood-forming stem cells with healthy donor cells, offering the sole cure for thalassemia. However, finding suitable matches poses a challenge, limiting the number of severe thalassemia patients who can undergo this procedure.

The choice of treatment depends on the type and severity of thalassemia, the age of the patient, the presence of complications, and individual health considerations. Regular monitoring and multidisciplinary care involving haematologists, endocrinologists, and other specialists are crucial for the optimal management of thalassemia.

There is an unmet need for innovative approaches and advanced therapies to enhance treatment efficacy for thalassemia patients, aiming to improve their quality of life and achieve better long-term outcomes. Establishing research initiatives and national registries is essential to collect data, identify trends, and guide evidence-based interventions for effective population-scale management of thalassemia.

The high cost of thalassemia care in India highlights the need for affordable medical treatments, diagnostic tests, and increased access to specialized healthcare services. Additionally, there is a need to identify and address specific gaps and unmet needs in blood services for thalassemia, given that regular blood transfusions are a cornerstone of thalassemia management.

With the 1Lattice 1nsights comprehensive benchmarking suite, we can map and assess the rare disease market landscape. Our data-driven approach & robust methodology allow pharmaceutical organizations to make informed decisions about potential therapeutic segments, market access, and competitive landscape benchmarking and patient engagement strategies.

Also, 1Lattice has the capabilities to assess the effectiveness of Patient Support Programs identify critical decision points where patients must make choices about their treatment or long-term pharmacotherapy, and understand what factors influence these decisions

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