Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/41447

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Title
n of 1 trial for an ornithine transcarbamylase deficiency carrier
Author/Creator
Hackett, A.;  Gillard, J.;  Wilcken, B.
Institution
The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
Description
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder of the urea cycle. It is often fatal in affected males. Treatment for affected individuals includes dietary protein restriction, activation of alternative pathways of nitrogen excretion and L-arginine supplementation. Depending on the amount of X chromosome inactivation skewing, females show variable clinical manifestations, and sometimes the need for treatment, including medications, is unclear. We conducted an n of 1 randomized controlled trial on an obligate OTC carrier. The treating physician and patient were blinded to treatment. Either placebo capsules or L-arginine capsules were given for weekly periods. Weekly efficacy indicators included plasma arginine and glutamine levels and a quality of life/mood assessment questionnaire scale. Clear evidence of benefit with L-arginine compared to placebo was shown. This is the first time an n of 1 randomized controlled trial has been reported for an X-linked metabolic condition. Despite some logistic hurdles, we have demonstrated that this method was an effective tool for determining the value of treatment. We propose that other rare metabolic conditions may be amenable to such trials, if the benefit of treatment is in doubt.
Relation
Molecular Genetics and Metabolism Vol. 94, Issue 2, p. 157-161
Publisher Link
http://dx.doi.org/10.1016/j.ymgme.2008.02.001
Date
2008
Publisher
Elsevier
Keyword(s)
n of 1 trial;  randomized controlled trial;  L-Arginine;  ornithine transcarbamylase enzyme deficiency (OTCD);  OTC
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/41447
Identifier
ISSN:1096-7192
Reviewed
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Subject
"Molecular Genetics and Metabolism"
 
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