Mother's Quest for Rare Medicine Leads to Affordable Solution for Children with Thyroid Disorder

As soon as her 20-month-old son was diagnosed with a rare thyroid disorder , Pavitra Sirolikar started researching about the condition and ways in which she could help him. She came to know of a medicine — first synthesised in 1953, but never approved in India — that could potentially reduce the debilitating effect of the disease. She imported a month’s worth of medicine from Germany — under the country’s personal use exemptions — at a cost of nearly Rs 13 lakh. She knew this was not sustainable; her son would need the medicine as long as he lives. Enter Hyderabad -based paediatrician Sivaranjini Santosh — known for speaking out against products not adhering to WHO norms like ORS — who took to social media with her patient’s plight. “I was feeling helpless. There was a medicine that could help him, but it was not available in India. I spoke to fellow doctors, I wrote to companies abroad, I reached out to anyone who could help them,” she says. In the end, the solution came from Netherland’s Pharmaceutical Accountability Foundation, an NGO working to ensure that medicines remain accessible to patients at fair prices. With the medicine Tiratricol that Pavitra’s son needed being one that has existed for decades, the organisation was able to compound it — the practice of a pharmacist mixing and preparing the medicine — at a fraction of the cost at which it is sold by the pharmaceutical company that currently holds exclusivity. Aside from Pavitra’s son, the foundation has been able to track six other children in need of the medicine in India and has agreed to provide them the treatment for free for a year. Even after that, the compounded medicine will cost around Rs 12.5 lakh a year as opposed to Rs 4 crore that the drug sold by the pharmaceutical company costs. He was diagnosed with a rare genetic condition called Allan-Herndon-Dudley syndrome (AHDS) that can lead to problems with speech and mobility, including an inability to walk or sit independently. The condition is caused by a mutation in the gene that encodes for a protein called MCT8. This protein normally transports the thyroid hormone T3 to the cells, tissues, organs, and importantly the brain. “In children with faulty MCT8, the thyroid hormone does not reach the brain, slowing down the development. At the same time, because the body thinks that it does not have enough thyroid hormone, it keeps producing more and more, resulting in excessive thyroid in the bloodstream and thyrotoxicity,” explains Dr Santosh. The medicine Tiratricol mimics the action of the thyroid hormone but it does need MCT8 to carry it to the brain. “The medicine can prevent the excess production of thyroid hormone in the body and to a decent extent also prevent damage to the brain. It cannot reverse the changes in the brain so it is essential that children get the medicine from early in life,” says Dr Santosh. After being synthesised in the 50s, the drug was approved for the treatment of conditions such as thyroid hormone resistance by 1974. It has also been available in several other countries as an over-the-counter dietary supplement for weight loss. Its use as a potential therapy for AHDS was first reported in 2014. With trials ongoing — and Tiratricol receiving an orphan drug designation by the European Medicines Agency in 2017 and the US Food and Drug Administration in 2019 — Swedish pharmaceutical company Egetis Therapeutics became the marketing authorisation holder. They withdrew the previously available Tiratricol from the market and rebranded it — with a nearly three to four-fold price markup — as Emcitate. Netherland’s Pharmaceutical Accountability Foundation referred to this as medicine hijacking. “We have made it our priority to go after companies that we call pharma pirates or medicine hijackers. These are companies that actually control an old product, re-register them for an orphan disease, and under European medicine legislations you then get ten years of exclusivity, meaning they can ask patients for whatever they want,” says Wilbert Bannenberg, chairperson of the foundation. He adds that the prices of the medicines that had received the orphan drug designation went up several folds. With the drug not under any patent — and available in the market since the 70s — it was not difficult for the foundation to purchase the active pharmaceutical ingredient for it. The foundation was then able to manufacture the drug on a small scale with the help of pharmacists. Laws in Europe, and Netherlands, have carve-out for this type of formulation of drugs for individual patients or in small batches. This compounded drug is now being brought to India for the seven children who have been so far diagnosed with the condition — with five being diagnosed at Christian Medical College Vellore — on personal use exemption. The children have received permission to import the medicine for a year at present. While there are certain provisions for compounding drugs in India as well, experts say that without an active patent Indian companies may not be able to manufacture it.