Changes needed to the National Program for Rare Diseases in India

The Government of India launched the National Program for Rare Diseases (NPRD) a few years back. In its current form, 63 rare diseases (including Atypical HUS) are covered. The program will fund a one time grant of Rs. 50 lakhs to each patient towards treatment. Decisions to fund such treatment will be made by Centres of Excellence (CoE) identified by the government.

Such a policy was unthinkable till a few years back. The debate between spending large sums of money on the treatment of a few people versus spending that money on basic healthcare necessities like preventing infant mortality, basic sanitation and other aspects of primary healthcare which impact several times more people is far from settled. While I may be biased in favour of the former due to my medical history, I do acknowledge that the choice is tricky. I am grateful therefore that the Indian government chose to set up the NPRD which impacts only a few people.

I would still suggest that two changes be made to the NPRD.

One size does not fit all

Currently, irrespective of the disease and the extremely varied types and durations of treatment, the NPRD stipulates the same grant for every patient. While the Rs. 50 lakhs might be more than enough for some, it is woefully inadequate for others. Even within the same rare disease, the requirements could be different. 

Take my disease, aHUS, for instance. Depending on the age of the patient and specific genetic mutation, the dosage and the duration of treatment with Eculizumab (the only approved drug to treat the disease) could vary. Some people would need only two vials twice a month while others could need three to four vials twice a month. Again, some patients may need it lifelong while others could need it only for a few months.

Keeping this reality in mind, the NPRD needs to allocate different funds for different patients. I understand this could make the decision process extremely complex. Who decides, for instance, which patient gets how much money? A group of experts can be constituted for each disease and a framework can be established to guide such decisions. Other solutions can be explored based on the experience of other nations where these problems have been successfully resolved.

Involvement of CoEs

In the current policy, decisions pertaining to applications for assistance under the NPRD are to be taken by CoEs. One can only imagine the delays this would bring about in getting access to the drugs by patients. The process would involve the treating physician getting the history and the clinical summary ready and then getting this information to the appropriate committee in a CoE close by. The authorities who decide on such applications in the CoE would need to then meet and review the dossier submitted. They might have further questions which would need to be communicated to the treating physician and then if everything is clear, they would decide. 

In diseases such aHUS, time is critical. Quick administration of the drug can mean the difference between remission and progression to kidney failure or even death. In such circumstances, does it really make sense to allow so much delay in deciding on the application?

One possible solution could be to not require a committee but one doctor among a panel of doctors in the CoE to decide on the application. The treating physician should be able to request urgent hearing of the case and decisions should be taken in less than 48 hours. Such models have been adopted in other nations already where similar circumstances exist.

The Government of India has shown amazing foresight and consideration for rare disease patients in coming up with the NPRD. If the kinks mentioned above can be ironed out, it would do tremendous benefits to the intended beneficiaries of this policy. 

How you can get access to Soliris (Eculizumab) in India: Self Pay Route

Now that Soliris is available in India, it is important for patients and their families and doctors to know how to get access to the drug. It is obviously not something that you can walk into a pharmacy and buy.

The drug can be accessed on one of two ways:

1. Paying yourself for it
2. Getting it through the Government's National Program for Rare Diseases (NPRD)

You can get more information of the contours of the NPRD and how it works here.

The Atypical HUS India Foundation has consulted the manufacturers of the drug and understood the steps to be taken by patients or their families to get access to the drug.

Cost of the drug for self-paying patients

The drug comes in vials of 300 mg each. Each vial costs about Rs. 95,000-100,000. Adults require about 3-4 vials each time, typically twice a month at steady state. There is a higher dosage required in the first few weeks. The dosage for children is typically lower. Please consult your doctor to determine the right dosage and frequency.

Steps to follow to get access to the drug

• The first step is to speak to your doctor to prescribe the drug on a prescription note along with the history and the tests conducted to make the decision to prescribe. Your doctor will need to ascertain your clinical condition to confirm if the drug is likely to help you. A lot will depend on your current clinical condition including (and not limited to) the following:
• Are you recently diagnosed and you still retain significant kidney function?
• Have you progressed to kidney failure requiring dialysis?
• Are you a candidate for a kidney transplant?
• Do you have willing related donor?
• Are you on the cadaver transplant list?
• Once the prescription is ready, your doctor will need to contact AstraZeneca. The Atypical HUS India Foundation can also help make this connection. Email us at ahusindia@gmail.com.
• The company's medical team will then speak with the doctor directly to understand the clinical background and requirements.
• The AstraZeneca commercial team will then liaise with the doctor / hospital pharmacy and arrange the drug through the appropriate authorized distributor.
• Escalation for urgent support: If you face challenges in accessing the drug, or if the physician is temporarily unavailable, you can write to med.info3@astrazeneca.com with a cc to ahusindia@gmail.com and oshin.santoshi@astrazeneca.com.

We will soon publish steps to access the drug through the second pathway - through the government's NPRD.

How India's National Program for Rare Diseases can help aHUS patients

Here are some important facts to know about the Indian Government's National Program for Rare Diseases (NPRD) can help aHUS patients.

National Program for Rare Diseases

This program, instituted by Ministry of Health and Family Welfare, offers financial help and access to care for rare disease patients. As of August 2024, 63 rare diseases were covered under this program. Atypical Hemolytic Uremic Syndrome (aHUS) is part of this list of diseases.

Three groups of rare diseases are covered by this program:

1. Diseases that can be cured with a one-time treatment
2. Diseases that need lifelong treatment but costs are low
3. Diseases that need lifelong treatment and costs are very high

aHUS comes under the third group.

Support offered by the government

The government will fund up to Rs. 50 lakh per patient for treatment. The government may offer extra flexibility for Group 3 cases like aHUS, based on the patient’s situation. No GST or customs duty will be levied on rare disease drugs imported for treatment.

Centres of Excellence

The government has identified a list of Centres of Excellence (CoE) which would be the nodal agencies to facilitate treatment under this program. Here is a list of the CoEs in different cities in India.

Things to do to avail the support from the government

Patients must speak to their doctors about registering with the NPRD at a Centre of Excellence. This would involve medical evaluation to confirm the diagnosis, some documentation which would included some tests, medical history etc. There is an application form that would need to be filled in. Once that is submitted, then patients would need to wait for the approval to come.

List of Centres of Excellence under NPRD

Here is a list of the Centres of Excellence listed under the National Program for Rare Diseases (NPRD). These centres are authorised to approve any treatment for rare disease patients under the NPRD where a fund of up to Rs. 50 lakhs is granted.

• All India Institute of Medical Sciences, New Delhi
• Maulana Azad Medical College, New Delhi
• Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow
• Post Graduate Institute of Medical Education and Research, Chandigarh
• CDFD with Nizam Institute of Medical Sciences, Hyderabad
• King Edward Memorial Hospital, Mumbai
• Institute of Post-Graduate Medical Education and Research, Kolkata
• Center For Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru
• All India Institute of Medical Sciences, Jodhpur
• Institute Of Child Health and Hospital for Children, Chennai
• Government Medical College, Thiruvananthapuram
• All India Institute of Medical Sciences, Bhopal

Eculizumab Launched in India

In a long-awaited welcome development, Eculizumab has been formally launched in India. In a press release issued recently, AstraZeneca, the company that acquired Alexion Pharmaceuticals, the manufacturer of the drug (brand name: Soliris) said, "Until now, limited awareness, diagnosis, and access to targeted therapies have contributed to prolonged hospitalisations and increased complications for those affected. The availability of Eculizumab marks a breakthrough in the standard of care."

For aHUS patients in India, this is a tremendous breakthrough in their collective journey. Until now, the drug was either not available or available only by importing it specifically for their use - a very arduous and complicated process.

Hopefully now, that would be a thing of the past. While there is still some lack of clarity on how the drug can be accessed and the cost at which it is available (which the aHUS India Foundation is working closely with the company on getting more information about), at least the delays in importing the drug would not be there.

The aHUS India Foundation strongly urges patients to speak to their doctors on their treatment plans and how they would change with the availability of the drug.

The Foundation also urges doctors with aHUS patients to be aware that the drug is now available and to please reach out to the company or us (ahusindia@gmail.com) and get access to the drug for your patients.

We, at the aHUS India Foundation are grateful to the company and the regulatory authorities for their efforts in making the drug available in India.

aHUS India - Patient Journeys

Often beyond all the news and information, real patient journeys get hidden. These journeys are however the real story. Individual stories of pain, suffering and yes - even in the midst of all the despair - hope. We, at the Atypical HUS India Foundation are bringing to you such stories where patients have fought back to take control of their lives.

In the first such story, we bring to you a young male from Mumbai who was diagnosed with this disease out of the blue, with no prior warning. This diagnosis turned his life upside down. And yet, he continues fighting, even today in the hope that one day he will get access to a complement inhibitor which will enable him to lead a normal life.

aHUS Simplified - Webinar Summary

Here is a summary of what was discussed in the webinar we held on 30 June:

Dr. Arvind Bagga (Pediatric Nephrologist, Indraprastha Apollo & Professor Emeritus, AIIMS Delhi)

Presented a foundational explanation of the immune system and its two parts – innate and adaptive immunity.

Focused on the complement system, especially the alternative pathway which is rapidly activated and can become overactive in aHUS.

Explained how regulatory proteins (Factor H, Factor I, CD46) function as brakes on the complement system; their failure leads to uncontrolled immune activation and damage to the body’s own tissues.

Outlined that aHUS leads to microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury – hallmark features of thrombotic microangiopathy (TMA).

Described diagnostic process, stressing it is largely one of exclusion, and explained the limited utility of low C3 as a consistent diagnostic marker.

Detailed genetic causes (autosomal recessive or dominant mutations in Factor H, I, CD46, C3, DGKE) and role of Factor H autoantibodies in Indian children.

Reiterated that plasma exchange is particularly useful in anti-Factor H autoantibody cases, but not a substitute for complement inhibitors like Eculizumab.

Urged greater awareness among pediatricians and hematologists for early diagnosis and referral.

Dr. Valentine Lobo (Senior Nephrologist, KEM Hospital, Pune)

Highlighted the evolving nomenclature, noting that 'aHUS' is now better classified under complement-mediated thrombotic microangiopathies (TMAs).

Shared his extensive clinical experience in adults: common triggers include pregnancy (40% of his cohort), snake bites (16%), transplants, drugs, and autoimmune diseases.

Discussed difficulty in distinguishing primary (genetic/autoimmune) vs secondary aHUS (triggered by known factors). Emphasized that genetic testing is not always required for secondary aHUS.

Provided criteria for diagnosis in adults – anemia, thrombocytopenia, acute kidney injury – and how it's often missed due to overlapping symptoms with more common illnesses.

Outlined findings from his cohort of 121 patients over 12–15 years and the role of biopsy in complex cases (e.g., post-transplant or late presentation).

Warned against unregulated dosing once complement inhibitors become available, emphasizing the importance of making an accurate diagnosis first.

Described current and past clinical trials in India (Crolimab, Iptacopan), with India contributing significantly due to high patient volumes.

Stressed the urgent need for reference labs for anti-Factor H testing, genetic interpretation expertise, and establishment of structured treatment pathways at COEs.

Shiv (Patient Speaker)

Shared a deeply personal account of living with aHUS: first symptoms appeared at age 22 with hematuria, jaundice, and high BP; was quickly placed on dialysis.

Received plasma exchange but sustained irreversible kidney damage; underwent 11 months of dialysis before kidneys partially recovered (~40% function).

Maintained partial function from 2014–2024, after which kidney function again declined and he resumed dialysis.

Only recently diagnosed with a CFI mutation after undergoing genetic testing, unavailable during his initial episode.

Highlighted emotional toll, work-life challenges, and physical exhaustion from dialysis, but also stressed importance of family support and community.

Encouraged others to explore India’s National Rare Disease Policy and register under the scheme through COEs to gain access to future therapies.

Expressed hope for access to eculizumab or ravulizumab in India, required before his planned kidney transplant.

Audience Q&A (with Drs. Bagga & Lobo)

Recurrent disease post-transplant is likely due to a pathogenic complement mutation – full genetic workup recommended (gene sequencing, CNV, haplotype, and therapy prediction).

Plasma exchange is superior to plasma infusion in acute settings due to higher volume clearance of antibodies and regulators.

Withdrawal of eculizumab therapy has been studied: low relapse rates in patients with no detected mutation, but higher in those with pathogenic mutations.

Typical vs Atypical HUS vs TTP: History of diarrhea suggests typical HUS (Shiga toxin); low platelets with less severe kidney failure points to TTP; aHUS is a diagnosis of exclusion.

Doctors called for co-specialty awareness (hematologists, internists) to avoid misdiagnosis and delays in therapy.

Announced development of a point-of-care test (similar to a pregnancy test) for anti-Factor H antibodies in collaboration with Spanish researchers and Indian labs (THSTI, ICMR).

Stressed need for strong guidelines to ensure correct dosing and avoid cost-driven under-treatment once drugs are introduced.

Kamal Shah (Moderator & Host; Founder, aHUS India Foundation)

Introduced the webinar as the first of its kind in India for aHUS patients, highlighting the historical lack of access to treatment.

Expressed hope due to recent advancements and encouraged patients to engage by registering with the foundation, sharing their stories, and subscribing to the newsletter.

Explained that aHUS was previously seen as a double misfortune – genetic and geographic – but now there's hope with new treatments becoming available in India.

Described the Indian government's National Policy for Rare Diseases, which offers financial support of up to ₹50 lakh for patients under Category 3 (treatable but high-cost diseases like aHUS).

Detailed the need for patients to register with designated Centers of Excellence (COEs) through their doctors to access this scheme.

Listed 12 COEs and provided the foundation’s website (www.hus.in) for further information.

International Guests Acknowledged

Linda Burke (USA), Jeff Schmidt (USA), and Margriet Eygenraam (Canada) who had joined the webinar from various parts of the world were acknowledged for their contributions to the global aHUS community. 

Recognized for their leadership and continued support to Indian patients through international collaboration and awareness.

Closing Remarks

Kamal Shah reiterated key calls to action: register with the aHUS India Foundation, subscribe to the newsletter, and submit patient stories.

Appreciated the participation of all speakers and attendees and promised to conduct more such webinars.

Thanked AstraZeneca for supporting the event, and the Kidney Warriors Foundation for its consistent partnership.