Dr Anup Rawool, Consultant in Clinical and Cancer Genetics at Sahyadri Hospitals, Pune, discusses innovative therapies and medications for rare diseases in India
Rare diseases, often referred to as orphan diseases, affect a small percentage of the population. Yet, they represent a significant challenge in healthcare due to their complexity and the lack of comprehensive treatment options. For a country with a colossal population like ours with a blend of genetic backgrounds, it becomes imperative to concentrate on innovative therapies and medications as the impact becomes exceptionally greater.
Understanding rare diseases
Rare diseases are defined as conditions affecting fewer than one in 2,000 people. In India, this translates to a substantial number of individuals, given the country’s large population. These diseases are characterised by a wide variety of disorders and symptoms, often genetic in origin, making standard treatment protocols both complex and elusive.
The primary challenges in treating rare diseases stem from a combination of diagnosis delays, limited research, and high treatment costs. Many rare diseases are difficult to diagnose accurately and promptly because they are uncommon and their symptoms often mimic those of more prevalent conditions, leading to significant diagnostic delays. Additionally, the small number of patients suffering from each rare disease results in minimal research attention and insufficient funding, as the financial return on investment in developing treatments is typically low. This issue is compounded by the prohibitively high costs associated with developing treatments for rare diseases, which are rarely recuperated through sales, further deterring pharmaceutical investment and complicating access to necessary therapies for affected individuals.
Scientific advancements have paved the way for innovative treatments that address the root causes of rare diseases rather than just managing symptoms. These cutting-edge therapies offer promising solutions for conditions that previously had limited or no treatment options. Some of the most ground-breaking emerging therapies includes
Revolutionising genetic disorder treatment: Gene therapy is an advanced treatment that fixes faulty genes causing rare diseases. CRISPR gene editing helps scientists directly correct DNA errors, offering hope for conditions like sickle cell anemia and cystic fibrosis. Gene replacement therapy, like Zolgensma for spinal muscular atrophy (SMA), replaces defective genes with healthy ones. In ex vivo therapy, cells are modified outside the body before being reintroduced, while in vivo therapy changes genes inside the patient. Despite its potential, gene therapy remains expensive and hard to access, especially in developing countries.
Enzyme Replacement Therapy (ERT) for metabolic disorders: Enzyme replacement therapy is a vital treatment for metabolic disorders caused by enzyme deficiencies. Patients receive artificial enzymes to compensate for the missing or non-functional ones. This therapy has proven effective for lysosomal storage disorders (LSDs) such as Gaucher’s disease, Fabry disease, and Pompe disease, with prescribed drugs helping manage symptoms. However, ERT requires lifelong treatment, making it expensive and logistically challenging.
RNA-based therapies, targeting the root of genetic diseases: RNA-based therapies offer precise treatments for genetic diseases by modifying protein production. Antisense oligonucleotides (ASOs), like Spinraza for SMA, help boost essential proteins, while RNA interference (RNAi) silences faulty genes to stop disease progression. mRNA therapy, known for COVID-19 vaccines, is now being studied for metabolic and neurological conditions. These therapies show great potential, but more research is needed to ensure long-term effectiveness and safety.
Stem cell therapy used for regenerating damaged tissues: Stem cell therapy is a promising treatment for rare diseases that cause tissue damage or immune system problems. Hematopoietic stem cell transplantation (HSCT) is already used for conditions like sickle cell anemia and beta-thalassemia to replace faulty blood cells with healthy ones. Induced pluripotent stem cells (iPSCs), which can develop into any cell type, show potential for treating diseases like muscular dystrophy. However, challenges like immune rejection, ethical concerns, and limited research must be overcome before this therapy becomes widely available.
Small molecule drugs, expanding treatment options: Small molecule drugs assist with the treatment of rare disorders by focusing on a certain problem in the disease’s processes. They improve organ functions, correct malformed proteins, and are heavily utilised to manage a variety of genetic diseases and some uncommon rare cancers. These drugs are easier to take and often more affordable than biologics, but some require lifelong use and remain costly. More research and lower prices are needed to make them accessible to all patients.
The treatment of orphan diseases is undergoing drastic changes and developments, bringing a fresh breath to ever hopeful patients. Gene therapy, RNA treatment, enzyme replacement therapy, and stem cell treatment research is bound to change the reality of such patients. However, as is often the case, the poor availability of such advanced treatments is a significant concern, especially for India, where they are extremely expensive.
To broaden the application of these therapies, more availability of finances for research, international collaborations, and strong advocacy from patients are needed. The advancement of medical science brings along a gleam of hope for a brighter future with improved treatment solutions and increased possibilities.
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