Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
Status:
Completed
Trial end date:
2016-07-01
Target enrollment:
Participant gender:
Summary
Nitisinone is a potent inhibitor of the enzyme that catalyzes the formation of homogentisic
acid, and should be an even more logical treatment for alkaptonuria than for tyrosinemia, for
which it has been approved by the FDA.The objective of this research is to explore reported
age related differences in toxicity of nitisinone and its pharmacokinetic underpinnings and
to develop an optimal therapeutic requirement for a targeted population of presymptomatic
patients. The additional effect of mixtures of amino acids excluding tyrosine will be
explored to take advantage of protein synthesis to avoid elevations of tyrosine that would
otherwise limit the optimal dosage of nitisinone. The study is designed to treat patients and
find the optimal dosage of nitisinone to obtain maximal reduction in levels of homogentisic
acid and maintain safe levels of tyrosine.
The long term objective in the target population of pre-symptomatic patients is the
prevention of the characteristic effects on joint cartilage and tendons.