Takeda, a global, values-based, R&D-driven biopharmaceutical company, has
announced ILLUMINATE – a rare disease diagnosis program to support improved clinical results for
patients with Lysosomal Storage Disorders (LSD), independently run and managed by PerkinElmer and
sponsored by Baxalta Bioscience India Pvt Ltd (part of Takeda group of companies). This program will
support improved diagnostic pathways for patients with LSDs such as Gaucher disease, Fabry disease, and
mucopolysaccharidosis Type II (MPSII; Hunter Syndrome).Considerably reducing diagnostic time through the program, physicians could timely initiate the therapy.
Following initial recognition of symptoms that might indicate the diseases, Dried Blood Spot (DBS) testing
enables physicians to confirm their diagnosis by taking a blood sample on a filter card and sending this to
the laboratory for analysis. Reports are then available to the physicians, which can be accessed anytime
on a password-based portal.
Simon Gallagher, Interim General Manager, 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 program will enable faster diagnosis, bridging infrastructure gaps to enable timely treatment
and management of the disease. Putting the patient at the center, we will continue working towards
improving the standard of care for rare disease patients through strategic partnerships and investment in
innovative solutions in personalized care and treatment.”In its first phase, the program will be implemented by PerkinElmer at specific centers in Delhi, Haryana,Uttar Pradesh, Madhya Pradesh, Gujarat, Rajasthan, Maharashtra, Kolkata, Tamil Nadu, and Karnataka.
According to the WHO, a rare disease is a lifelong disease or disorder condition with a prevalence of 1 or
less per 1000. There are between 7000 – 8000 rare diseases, but less than 5% have therapies available to
treat them.
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2 Mistry PK, et al. Am J Hematol 2007;82:697–701;
3 Wraith JE, et al. Genet Med 2008;10:508-16; 4. Wang RY, et al. Genet Med 2011:13:457–84;
4 https://pubmed.ncbi.nlm.nih.gov/25482214/
5 https://www.indianpediatrics.net/dec2015/dec-1025-1026.htm
6 https://main.mohfw.gov.in/newshighlights/national-policy-rare-diseases-2020
