Understanding Orphan Drug Treatments For Rare Diseases
What if Your Disease Had No Cure? Imagine walking into a doctor’s office, feeling hopeful about getting a diagnosis—only to hear, “Your condition is so rare, we don’t have a treatment for it.” Sounds terrifying, right? Well, for millions of people worldwide, this isn’t just a bad dream—it’s their reality.
Rare diseases, by definition, affect a small percentage of the population, but their impact is anything but small. In fact, over 300 million people globally suffer from a rare disease. The challenge? Most pharmaceutical companies don’t see profit in developing treatments for such a small market. That’s where orphan drugs for rare diseases come in.
But what exactly are these drugs, and how do they help people battling rare diseases? Let’s break it down in the simplest way possible.
What are rare diseases, and why are they so hard to treat?
A rare disease is any condition that affects around 70-96 million people in India or fewer than 200,000 people in the U.S. Some well-known rare diseases include Huntington’s disease, muscular dystrophy, and cystic fibrosis, but there are thousands more—many of which you’ve probably never heard of.
Why is treatment so difficult?
1. Lack of Research – Since these diseases affect a small population, they don’t get the same attention or funding as common illnesses like diabetes or heart disease.
2. Few Patients for Clinical Trials – To develop a drug, scientists need test subjects. However, with rare diseases, finding enough patients for a clinical trial is tough.
3. High Costs – Pharmaceutical companies spend billions on drug development, and when there’s a small market, they struggle to recover those costs.
This is where orphan drug development becomes critical.
How do orphan drugs help rare disease patients?
Orphan drugs are speciality medications for rare diseases. They’re called “orphan” drugs because, for a long time, pharmaceutical companies abandoned them due to low profitability. But that changed when governments worldwide introduced incentives to encourage research and production.
Why do orphan drugs matter?
- They give hope to people with conditions that were previously untreatable.
- They help manage symptoms and improve the quality of life.
- In some cases, they completely change the course of a disease, slowing or even stopping its progression.
In India, the government introduced the National Policy for Rare Diseases (NPRD) 2021, which provides financial support of up to ₹50 lakhs for patients with certain rare diseases, making orphan drugs more accessible.
In India, the approval and availability of orphan drugs have increased significantly since the introduction of the National Policy for Rare Diseases (NPRD) 2021. For instance, Zolgensma (Onasemnogene Abeparvovec), a groundbreaking gene therapy for Spinal Muscular Atrophy (SMA), gave a new lease on life to a 6-month-old baby named Ayaansh Gupta from Hyderabad, improving his muscle strength and mobility within months of treatment.
List of FDA-Approved orphan drugs making an impact in India
Several FDA-approved orphan drugs have been introduced in India, transforming treatment outcomes for patients with rare diseases.
1. Kalydeco (Ivacaftor) for Cystic Fibrosis – One of the first precision medicines for cystic fibrosis, significantly improving lung function and quality of life.
2. Brineura (Cerliponase Alfa) for Batten Disease – Approved in 2017, it slows down the progression of neuronal ceroid lipofuscinosis type 2 (CLN2), giving children a chance at an improved quality of life.
3. Zolgensma (Onasemnogene Abeparvovec) for SMA – The world’s most expensive gene therapy that offers a one-time cure for SMA. Though costly, it has been used in India through crowdfunding and government-supported initiatives.
What are the biggest challenges in rare disease treatment?
Even with orphan drug development, treating rare diseases is still an uphill battle. Some of the biggest roadblocks include:
1. High Drug Prices
Since rare disease drugs cater to a small population, they often come with staggering price tags—sometimes hundreds of thousands of dollars per year. Insurance coverage isn’t always guaranteed, making access difficult for many patients.
2. Delayed Diagnoses
The average time for a rare disease diagnosis is 4-5 years. That’s because many doctors have never encountered these conditions before, leading to misdiagnoses and long periods of uncertainty for patients.
3. Limited Availability
Even if an orphan drug exists, it might not be readily available in every country. Many patients are forced to travel abroad or wait years for approvals.
4. Ethical Dilemmas in Drug Development
When pharmaceutical companies focus on profits, they may abandon research on a drug that doesn’t seem financially viable—even if it has the potential to save lives.
Are gene therapy and biologics the future of rare disease treatment?
Two of the most exciting advancements in rare disease treatment are gene therapy and biologics for rare diseases.
What is Gene Therapy?
Think of gene therapy for rare diseases as reprogramming your body to fix itself. Scientists modify or replace defective genes to correct the underlying cause of a disease. For some rare diseases, this could mean a one-time treatment instead of lifelong medication!
For instance, Pompe disease is a lysosomal storage disorder that leads to progressive muscle weakness and respiratory issues due to an enzyme deficiency. Researchers are now exploring gene therapy as a treatment for Pompe disease, aiming to replace the faulty gene and restore normal enzyme production. If successful, this could significantly improve patients’ quality of life and reduce dependency on lifelong enzyme replacement therapy.
How Do Biologics Help?
Unlike traditional drugs, which are made from chemicals, biologics are made from living cells. They’re designed to target specific disease processes and are often more effective with fewer side effects.
While both treatments are still developing, they offer hope for the future of rare disease treatment.
What is the role of pharmaceutical companies in rare disease drugs?
Pharmaceutical companies play a crucial role in bringing orphan drugs to the market, but their motivations can be complex.
The Good:
- Many companies invest heavily in rare disease research, helping patients who previously had no treatment options.
- Some companies partner with patient advocacy groups to push for faster drug approvals.
The Not-So-Good:
- Some companies use orphan drug status to extend monopolies, keeping prices high even after the research costs have been recovered.
- Delays in manufacturing or distribution can leave patients without access to life-saving medications.
Still, without pharmaceutical companies, orphan drug development would not be possible—so it’s all about finding a balance between innovation and affordability.
Why is access to rare disease drugs still a struggle?
Despite advancements in rare disease drug availability, patients face several challenges in getting the treatment they need:
1. Regulatory Hurdles – Drug approvals take time, and many rare disease treatments are stuck in bureaucratic limbo.
2. Geographic Barriers – Some drugs are available in one country but not in another, forcing patients to travel or wait years for local approvals.
3. Affordability Issues – Even when treatments exist, they can be unaffordable for the average patient without government or insurance support.
This is why patient advocacy groups and global initiatives push for better access to speciality medications for rare diseases.
Frequently Asked Questions (FAQs)
1. Why are rare diseases so expensive to treat?
Since rare diseases affect a small population, drug companies recover research costs by setting higher prices. Additionally, the cost of clinical trials, regulatory approvals, and limited patient numbers all contribute to the high expense.
2. How can governments help improve access to orphan drugs?
Governments can provide tax incentives, funding for research, faster approval processes, and price regulations to make rare disease drugs more accessible and affordable.
3. What are some recent breakthroughs in rare disease treatment?
Advancements in gene therapy, biologics, and personalised medicine have revolutionised the way rare diseases are treated. Some of these therapies offer one-time cures instead of lifelong symptom management.
4. Can rare diseases be prevented?
Some rare diseases, especially those with genetic origins, cannot be prevented. However, early genetic testing and screening can help with early diagnosis and better treatment planning.
5. What should someone do if they suspect they have a rare disease?
If you experience unusual, unexplained symptoms, consult a specialist or genetic counsellor. You can also connect with rare disease advocacy groups to find resources and support.
Final thoughts
While the fight against rare diseases is far from over, progress is happening. With orphan drug development, gene therapy, and biologics, we’re closer than ever to finding treatments that give hope to millions. But there’s still work to be done. Governments, pharmaceutical companies, and healthcare systems need to make these treatments accessible and affordable so no patient is left behind.
If there’s one thing to take away from this, it’s that rare diseases may be uncommon, but their impact is huge—and finding a cure should never be a question of profitability. Rare diseases may be “rare,” but the fight for better treatments and accessibility is a global challenge. The more we understand and advocate, the closer we get to making life better for millions of people.
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