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Clinical development of nitisinone for alkaptonuria (developakure) - a rare disease clinical trials design

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Alkaptonuria (AKU) is an orphan inherited homogentisate dioxygenase enzyme deficiency resulting in accumulation of homogentisic acid (HGA). HGA is converted to a black pigment polymer known as ochronosis that causes tissue damage affecting many tissues including joints and heart, with significant poor quality of life. The DevelopAKUre project is a Europe-wide collaboration to study the efficacy and safety of nitisinone as a potential treatment in three clinical studies. The first is a phase 2 dose-response study (SONIA 1) which will determine the optimal dose of nitisinone that decreases HGA levels. The second is a phase III efficacy study (SONIA 2) based on the optimal dose and the third is a cross-sectional study (SOFIA) that will define the age that treatment should begin after determining the onset of ochronosis. Details and rationale of the SONIA 2 design will be described, with special attention to issues arising from the rarity of the disease.

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Correspondence to Eftychia Eirini Psarelli.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Psarelli, E.E., Cox, T. & Ranganath, L. Clinical development of nitisinone for alkaptonuria (developakure) - a rare disease clinical trials design. Trials 14, P29 (2013) doi:10.1186/1745-6215-14-S1-P29

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  • Rare Disease
  • Optimal Dose
  • Trial Design
  • Clinical Development
  • Potential Treatment


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