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Volume 04
Journal of Clinical Infectious Diseases & Practice
ISSN: 2476-213X
Rare Diseases Congress 2019
June 17-18, 2019
June 17-18, 2019 | Berlin, Germany
9
th
World Congress on
Rare Diseases and Orphan Drugs
Nitisinone in the treatment of alkaptonuria
Lakshminarayan Ranganath
Royal Liverpool University Hospital, UK
A
lkaptonuria (AKU) is an iconic autosomal recessive severe multisystem disorder of the tyrosine degradation
pathway due to lack of homogentisate dioxygenase resulting in increased circulating and urinary homogentisic
acid. Morbidity includes lithiasis (renal, salivary, prostate, gall bladder), osteopenia, fractures, ruptures of ligaments/
muscle/tendons, spine and joint disease. An approach to treating AKU by inhibiting the production of HGA by
using nitisinone has been recently recognized. Nitisinone has been used in a related tyrosine disorder, hereditary
tyrosinaemia 1 (fatal in early childhood) as the standard of care for more than 20 years. This presentation discusses
the efforts of our group in developing nitisinone for AKU, an approach consistent with repurposing. Nitisinone is
being developed as a licensed therapy in DevelopAKUre, a European Union funded clinical programme. In parallel,
nitisinone is also being used off license in a centre (NAC) commissioned by NHS England Highly Specialised Services
since 2012. Data collected from the NAC shows a beneficial effect of nitisinone in AKU.
Biography
Lakshminarayan Ranganath is a Consultant in Clinical Biochemistry and Metabolic Medicine at the Royal Liverpool Hospital. He has completed his Graduation
in Medicine from Madras before moving to UK. He has completed a Clinical and Research Training in Surrey before moving to Liverpool in 1999 where he
presently works. He has established the AKU theme of clinical and basic science research in 2003. He is now a leader in this field. He has published over 100
papers. He is the Chief Investigator and Coordinating Investigator of SONIA clinical trials. He is the inaugural Clinical Director of the Robert Gregory National
AKU Centre in Liverpool.
lrang@liverpool.ac.ukLakshminarayan Ranganath, J Clin Infect Dis Pract 2019, Volume 04