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

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 (http://creativecommons.org/licenses/by/2.0), 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). https://doi.org/10.1186/1745-6215-14-S1-P29

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Keywords

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