New Delhi: India’s leading health research body, the Indian Council of Medical Research (ICMR), has extended an invitation to domestic pharmaceutical and biotechnology companies to foster the development of localised treatments for a list of “priority rare genetic disorders”, ThePrint has learnt.
This initiative follows the government’s announcement of the launch of the first four Indian-made drugs for rare diseases last year. These drugs, also known as orphan diseases, are part of a strategy to reduce medication costs by up to a hundred times, making them more accessible to Indian patients.
A rare disease is a health condition of a particularly low prevalence that affects a small number of people — less than 1 per 1,000 — according to the World Health Organization (WHO), but cumulatively afflicts about 6-8 percent of the population in any country at any given time.
According to estimates shared by the Union health ministry, India could have a total of 8.4 crore to 19 crore rare disease cases. There are over 700 diseases categorised as rare diseases, but the government says that less than 5 percent have therapies available to treat them.
Drugs for rare diseases are often imported and very expensive — running from several lakhs to even crores per year — making them unaffordable for the majority of Indian patients.
In most cases, the patients who can access these drugs depend on patient-assistance programmes by foreign pharmaceutical companies or are forced to crowdfund their treatment.
The ICMR, which is now offering assistance in pre-clinical, clinical research and regulatory approvals, has said that through the collaboration, it aims to encourage research, development, commercialisation and indigenisation of therapies for identified rare diseases.
These therapies include small molecules; enzyme replacement therapy (ERT); substrate reduction therapy (SRT), a treatment approach for certain metabolic disorders and biosimilars — drugs that are similar and cheaper alternatives to biologics, a new class of drugs that are made from living cells.
On the other hand, the diseases that the ICMR has planned to target include Duchenne Muscular Dystrophy (DMD); Spinal Muscular Atrophy (SMA); Lysosomal Storage Disorders (LSD), such as Gaucher disease, Pompe disease, Fabry’s disease; Mucopolysaccharidosis (MPS) and Niemann Pick disease, apart from Tyrosinemia, Neurofibromatosis and Familial Hypercholesterolemia.
The companies that have been invited for the project include pharmaceutical and biotechnology companies that are already involved or are ready to work in the area of therapeutics in rare genetic diseases.
A senior scientist at ICMR told ThePrint that the Expression of Interest (EOI) to collaborate with Indian pharma firms was part of the National Policy on Rare Diseases adopted by the central government in 2022. ThePrint has a copy of the EOI document floated by the ICMR.
“The initiative is particularly important as most drugs for rare diseases — even those that are out of patent — are very expensive as there are no generic versions available for them. They are imported in small numbers for a meagre number of patients who can afford them,” said the ICMR scientist.
On their part, pharma companies said they were open to such collaborations, provided they are financially viable.
Sudarshan Jain, secretary general of the Indian Pharmaceutical Alliance, a network of 25 research-based Indian drugmakers, told ThePrint, “We would like to understand in what way the ICMR can support the companies to develop drugs for rare diseases.”
Prasanna Shirol, co-founder and executive director of the Organization For Rare Diseases in India (ORDI), meanwhile, has called for more inclusivity in the ICMR criteria to support the companies, which should include startups.
ThePrint reached ICMR director general Dr Rajiv Bahl for comments via calls but failed to receive a response. This report will be updated when a reply is received.
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Priority disorders
In the EOI, the ICMR has said that DMD is a type of muscular dystrophy that affects nearly 1 in 3,500 live male births. A majority of patients have progressive muscle weakness, which leads to respiratory, cardiac and orthopaedic complications. Girls, too, can be carriers and be mildly affected, but the disease typically affects boys.
While there is no known cure for DMD, many drugs have been approved by the US Food and Drug Administration (USFDA) to manage the condition.
The other disease the ICMR has planned to target is Spinal Muscular Atrophy (SMA), which affects nearly 1 in 10,000 live births in India and causes progressive anterior horn cell degeneration in the spinal cord, leading to muscular atrophy and paralytic weakness.
“Nusinersen was the first approved drug for its treatment, which comes with a lifetime expense of several lakhs. Risdiplam is approved for children less than 2 months of age and has been approved for marketing in India,” said the ICMR document.
According to the agency, a large number of patients also suffer from Lysosomal Storage Disorders, which result in inborn errors of metabolism caused due to defects in lysosomal enzymes, transport or membrane proteins.
Many of these diseases are treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), but the cost of ERTs is exorbitant and is beyond the reach of most patients, said the EOI.
It, however, noted that some of the drug companies are providing ERT to a limited number of patients under their humanitarian access programmes.
Tyrosinemia is another rare autosomal recessive genetic metabolic disorder caused by a lack of the enzyme, fumarylacetoacetate hydrolase, required for the final breakdown of amino acid tyrosine — a building block of most proteins.
This condition leads to tyrosine accumulation in the liver, kidney and central nervous system causing jaundice, cirrhosis and liver cancer.
“Orfadin (Nitisinone) capsule and oral suspension formulation approved by the FDA for Tyrosinemia are available but are not affordable by Indian patients,” said the ICMR.
Another disease in which research projects have been invited is Neurofibromatosis — a group of disorders that cause tumour development in the nervous system — affecting 1 in 3,000 individuals in India.
This could result in hearing loss, learning impairment, vision loss, severe pain and cardiovascular problems. An FDA-approved drug, selumetinib (Koselugo), is available for treatment of children aged above 2 years.
The ICMR has also invited drugmakers to develop therapies against familial hypercholesterolemia — an autosomal dominant disorder that causes high low-density lipoprotein levels — leading to early-age heart attacks.
Evolocumab, a therapy for hypercholesterolemia, is an approved monoclonal antibody inhibitor in India for children aged above 12 years, it has said.
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‘ICMR criteria should be inclusive’
While some organisations working to improve access to lifesaving medicines for rare diseases in India have welcomed the development, they have also pointed out that the ICMR’s criteria for support to companies should be more inclusive.
“It’s really heartening to see that the ICMR is interested in supporting the rare disease patient community,” said ORDI’s Shirol.
However, he pointed out that the agency seems to be interested in inviting pharma or biotech firms that are already working on rare disease drugs or have something similar in the pipeline.
“It excludes potential startups and researchers who are doing translational research in different institutes where the outcome of their research is directly about the development of new therapies or products,” he highlighted.
The EOI, Shirol stressed, should have more clarity and broader inclusion criteria to accommodate these stakeholders as well.
Also, according to him, the EOI is not committed to financial funding and should have been open for newer researchers or companies that seek financial or preclinical support.
“If you look objectively, these are the researchers and startups that may require some collaboration and hand-holding, especially when it comes to preclinical research. Established companies may not need assistance or limited assistance from the ICMR such as in clinical trial setups,” said Shirol.
Therefore, he added that the latest EOI does not seem inclusive of rare disease drug development across the spectrum of stakeholders, but intended to assist those companies that might require a crucial push in terms of clinical trials or regulatory submissions for drugs already under development.
“We request for a broader call of EOI in terms of who can apply and specific expectations in terms of the commitments by the ICMR,” said the ORDI executive director.
(Edited by Richa Mishra)
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