Recently, the Delhi High Court summoned the secretary of the Union Ministry of Health and Family Welfare over a bunch of petitions related to the treatment of children suffering from rare diseases like Duchenne Muscular Dystrophy (DMD), Hunter’s Syndrome, etc. The secretary was summoned over the non-compliance of the Court’s direction to the Ministry to release Rs five crore for the treatment of children suffering from rare diseases.
The Court noted that in its orders given on March 23, 2021, and January 30, 2023, a large amount of funds was allocated for rare diseases. However, the budgets lapsed and the amounts were not released. It observed that repeated orders for the release of further amounts were not followed by the Ministry. The Court further said that it was now faced with an extreme situation where almost 40 children, who are before the Court, are likely to suffer physical and mental injury and deterioration of health if further funds are not released for their treatment.
Justice Prathiba M Singh said that under such circumstances, the Court cannot turn a blind eye to the medical condition of 40 children who are petitioners before the Court. The effectiveness of medicines already administered would also be completely obliterated if further doses are not provided for the said children.
The petitioners before the Court were children suffering from several rare diseases. They sought a direction to the centre to provide them uninterrupted and cost-free treatment as the therapy for these diseases is very expensive. An application was also filed by AIIMS, New Delhi, seeking permission to constitute the Centre of Excellence (COE) Rare Diseases Committee in place of the “two-member Rare Disease Committee” constituted after the directions passed by the Court on March 23, 2021.
On February 15, 2023, the minutes of the committee meeting of BIRAC, dated February 2, 2023, were placed on record before the Court. As per the said minutes, BIRAC was bound by the Biotechnology Industry Partnership Programme (BIPP) and the Grant-in-aid Letter Agreement (GLA) and it was mandatory for Hanugen Therapeutics to contribute 50% of the total project cost.
On March 6, 2023, the Court had referred the entire matter for developing indigenous therapies for rare diseases with Hanugen Therapeutics to the National Consortium for Research and Development on Therapeutics for Rare Diseases, and directed it to place its recommendations before the Court. On April 20, 2023, the Court was informed that the ICMR was willing to fund the on-site trials directly; however, the manufacturing of the drug would have to be carried out by the company concerned and the cost of the same would also have to be borne by the said company. Accordingly, the Court had directed Hanugen Therapeutics to place its stand on record.
The counsel appearing for BIRAC submitted that Hanugen Therapeutics has contacted BIRAC and informed that it has arranged its share of the funds in terms of the GLA and that BIRAC is also willing to continue honouring the said agreement insofar as the trials and funding of the same by ICMR is concerned. Trehan, amicus curiae, submitted that Hanugen Therapeutics wanted to hold a meeting with ICMR to understand how on-site trials can be funded by ICMR. The amicus curiae also submitted that Hanugen Therapeutics was in the process of arranging funds for its share of the amounts in terms of the GLA.
The Court observed that the lapse of budget was also confirmed in the affidavit filed by the Union health ministry to the tune of almost Rs 193 crore. The said affidavit also demonstrated that as against the elapsed budget, only a sum of Rs seven crore was spent between 2018 and 2021.
The Court noted that as per the orders, dated February 15, 2023, it had directed that a further amount of Rs five crore be released by the Union health ministry. The said direction was reiterated in the order dated March 6, 2023. However, the said amount has not been released till date. The Court observed that in respect of a large number of children, the treatment has commenced upon the release of Rs 50,00,000 in terms of the National Policy for Rare Disease qua the said petitioner. However, in respect of some of the children, even the initial sum of Rs 50,00,000 has not been received as yet.
Accordingly, the Court directed that in respect of the petitioners, Rs 50,00,000 each shall now be released within a period of one week to AIIMS, New Delhi. In the meantime, the order for the supply of medicines for these children shall be placed by AIIMS with the supplier so that by the time the funds are received, medicines can also be received and the treatment can be commenced immediately.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease. It is rare because there is a lack of a market large enough to get support and resources for finding treatments for the disease, except help from the government.
Most rare diseases are genetic in origin and thus present throughout a person’s entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, Ribose-5-phosphate isomerise (RPI) deficiency is considered the rarest known genetic disease.
No single number has been agreed upon for which a disease is considered rare. Global Genes has estimated that currently approximately 10,000 rare diseases exist globally, with 80% of these having identified genetic origins.
There is no single, widely accepted definition for a rare disease. Some definitions rely solely on the number of people living with a disease, while other definitions include factors, such as the existence of adequate treatments or the severity of the disease.
A rare disease is defined as the one that affects fewer than 2,00,000 people across a broad range of possible disorders. Chronic genetic diseases are commonly classified as rare. Among numerous possibilities, a rare disease may result from bacterial or viral infections, allergies, chromosome disorders, degenerative and proliferative causes, affecting any body organ. Rare diseases are the ones that impact very few people out of the general population. Most of these diseases don’t even have proper treatment at the moment. While several general diseases can be diagnosed and treated with a visit to a multi-super speciality hospital, the same is not the case with the diseases listed below. Due to their rarity, some of these diseases can be quite fatal and have high death rates.
RPI deficiency: It is considered the rarest disease in the world. RPI is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures and reduction of white matter in the brain. The only known case of RPI deficiency was diagnosed in 1984 and since then there have been no cases.
Fields’ disease: Another rare disease with only two known cases (twin sisters), Fields’ disease is a neuromuscular disorder that causes degeneration of muscles and weakening of the body. Medical experts are still researching the condition and there are chances of more cases cropping up in the future.
Hutchinson-Gilford progeria syndrome (HGPS): It causes premature ageing and makes even a two-year-old look aged and weak. This condition causes protruding eyes, wrinkled skin and hair loss. This condition is extremely rare and can be noticed in 1 out of 20 million people. There is no cure for HGPS at the moment and medical research is on to find ways to counter this condition.
Methemoglobinemia: A form of haemoglobin that makes blood blue in colour. A person suffering from Methemoglobinemia has an excess formation of Methemoglobemin causing skin, lips, and nails to turn blue.
Aquagenic Urticaria: Allergy to certain foods is a common occurrence. But, being allergic to water is also a health condition and an extremely rare disease. In this condition, a person’s skin turns red and itchy after overexposure to water. People suffering from this condition can also be allergic to snow, sweat, and rain.
Foreign Accent Syndrome: It causes a person to speak in a different accent from the natural one. It happens due to misalignment of the tongue which causes difficulty in pronouncing words as they should in the native language. The main cause of Foreign Accent Syndrome is brain injury.
Lesch-Nyhan Syndrome: It causes people to behave aggressively and harm themselves through head hitting and hand biting. This neurological disability happens due to the excess production of uric acid in a person’s body. The probability of this disease is 1 in 3,00,000 and affects only males.
Kuru disease: It is limited to just the Kuru tribe in Papua New Guinea. This disease occurs due to a ritual of tribes to consume the tissues of their loved ones after their death. Eating human brain tissues causes the transmission of prion—an infectious protein.
Harlequin: A severe genetic disorder that makes skin look like fish scales hence increasing the chance of infection and the inability of the body to maintain proper temperature. The likelihood of surviving Harlequin is rising, thanks to advanced medical treatment, but there is still no permanent cure.
—By Adarsh Kumar and India Legal Bureau