An Indian company, part of a broader group of firms under the Takeda, banner has announced a new diagnostics programme aimed towards rare diseases. The “ILLUMINATE” programme, independently run and managed by PerkinElmer and sponsored by Baxalta Bioscience India, aims to improve diagnosis rates of patients with Lysosomal Storage Disorders (LSD).
Raredisease.org defines LSDs as “inherited metabolic diseases that are characterised by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.” The effects of the disease may manifest in many different parts of the body, such as the skeleton, brain, skin, heart, and central nervous system depending on the causative disease.
There are nearly fifty diseases which fall under the umbrella term of LSDs, a characteristic common to many rare diseases, which cumulatively affect millions of individuals. However, each disease may affect only a handful of individuals, making research into their treatment uncommon.
Rare diseases, despite the rarity the term implies, are a life-changing and, unfortunately, life-ending issue for millions of people across the globe. Despite this they are among the most neglected diseases affecting humanity. Rare diseases cumulatively affect around 350 million people worldwide. This figure includes roughly seventy million individuals in India.
Simon Gallagher, interim general manager of Takeda India, said “we are committed to bringing better health and a brighter future to people, including patients living with a rare disease with unmet medical needs. The programme will enable faster [diagnoses], bridging infrastructure gaps to enable timely treatment and management of the disease.”
It is hoped, as Gallagher said, that the programme will aid in providing timely diagnosis for the conditions in question. The process is simple, following identification of potential symptoms by a medical professional, dried blood spot testing enables the medical staff to confirm their diagnosis by taking a blood sample on a filter card and sending this to a laboratory equipped with the Takeda programme for analysis.
In the initial phases of the rollout of the programme the diagnostic service will be offered at specific centres in Delhi, Haryana, Uttar Pradesh, Madhya Pradesh, Gujarat, Rajasthan, Maharashtra, West Bengal, Tamil Nadu, and Karnataka. Sumedha Gupta, head of patient services at Takeda India, said that “over two years – we look at targeting diagnosis for ~10,000 patients through our partner PerkinElmer and subsequently improve the diagnostic rate, which is currently observed as less than one percent.”
Rare diseases occur in large numbers throughout India simply due to its large population. Diagnostic programmes such as this may help in providing timely diagnosis. However, many diseases under the rare disease banner have no current treatments at all. Given the genetic nature of these diseases there is no cure and treatment often falls to symptom management. Given the rarity of rare diseases and the consequent lack of knowledge, even these forms of treatment are often limited.
Criticism has been levied against India for some time regarding their lack of progress regarding rare diseases. A paper published in Frontiers in Genetics wrote “it is an irony that, unlike other developing countries, India is lagging behind in context to regulation of RDs-based R&D [research and development] due to several key issues that need to be urgently addressed,” including the need for “strong legislative policies and initiatives…from government and other institutions.”
The prospects of those affected by rare diseases may soon improve in India. In April the Central Government notified the National Health Policy for Rare Diseases, allocating Rs four crore to the All India Institute of Medical Sciences (AIIMS) whilst approving an estimated Rs 25 crore for the year 2021-22 exclusively dedicated to rare diseases.
Please note that the Frontiers article was later retracted due to concerns raised about the analysis.