Suitability of nitisinone In alkaptonuria 1 (SONIA 1): An international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment

Annals of the Rheumatic Diseases

Volumn 75, Issue 2, 2016, Pages 362-367

  Ranganath, Lakshminarayan R ^a,b   Milan, Anna M ^a,b   Hughes, Andrew T ^a,b   Dutton, John J ^a   Fitzgerald, Richard ^a   Briggs, Michael C ^a   Bygott, Helen ^a   Psarelli, Eftychia E ^b   Cox, Trevor F ^b   Gallagher, James A ^b   Jarvis, Jonathan C ^c   Van Kan, Christa ^d   Hall, Anthony K ^e   Laan, Dinny ^d   Olsson, Birgitta ^f   Szamosi, Johan ^f   Rudebeck, Mattias ^f   Kullenberg, Torbjörn ^f   Cronlund, Arvid ^f   Svensson, Lennart ^f   Junestrand, Carin ^f   Ayoob, Hana ^g   Timmis, Oliver G ^g   Sireau, Nicolas ^g   Sang, Kim Hanh Le Quan ^h   Genovese, Federica ⁱ   Braconi, Daniela ^j   Santucci, Annalisa ^j   Nemethova, Martina ^k   Zatkova, Andrea ^k   McCaffrey, Judith ^l   Christensen, Peter ^m   Ross, Gordon ^m   Imrich, Richard ^k   Rovensky, Jozef ⁿ   more..

^a ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

^c LIVERPOOL JOHN MOORES UNIVERSITY   (United Kingdom)

^d PSR group BV   (Netherlands)

^e Cudos BV   (Netherlands)

^f BIOVITRUM AB   (Sweden)

^g AKU Society   (United Kingdom)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ NORDIC BIOSCIENCE A S   (Denmark)

^j UNIVERSITY OF SIENA   (Italy)

^k INSTITUTE OF CHEMISTRY   (Slovakia)

^l Agilent Technologies Ireland   (Ireland)

^m AGILENT TECHNOLOGIES   (United Kingdom)

ⁿ NATIONAL INSTITUTE OF RHEUMATIC DISEASES   (Slovakia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HOMOGENTISIC ACID; NITISINONE; TYROSINE; CYCLOHEXANONE DERIVATIVE; ENZYME INHIBITOR; NITROBENZOIC ACID DERIVATIVE;

ADULT; ALKAPTONURIA; ARTICLE; BACKACHE; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; DOSE RESPONSE; DRUG DOSE COMPARISON; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; FEMALE; HUMAN; MALE; MORNING DOSAGE; MULTICENTER STUDY; OPEN STUDY; PARALLEL DESIGN; PATIENT COMPLIANCE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; TREATMENT DURATION; TREATMENT OUTCOME; TYROSINEMIA; URINARY EXCRETION; BLOOD; CLINICAL TRIAL; DRUG ADMINISTRATION; METHODOLOGY; MIDDLE AGED; URINE;

ADULT; ALKAPTONURIA; CYCLOHEXANONES; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG ADMINISTRATION SCHEDULE; ENZYME INHIBITORS; FEMALE; HOMOGENTISIC ACID; HUMANS; MALE; MIDDLE AGED; NITROBENZOATES; RESEARCH DESIGN; TYROSINE;

EID: 84954383398     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2014-206033     Document Type: Article

References (17)

1. Helliwell TR, Gallagher JA, Ranganath L. Alkaptonuria-a review of surgical and autopsy pathology. Histopath 2008;53:503-12.
2. O'Brien WM, La Du BN, Bunim JJ. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962). Am J Med 1963;34:813-38.
3. Ranganath LR, Cox TF. Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis 2011;34:1141-51.
4. Phornphutkul C, Introne WJ, Perry MB, et al. Natural history of Alkaptonuria. N Engl J Med 2002;347:2111-21.
5. Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis 2011;34:1127-36.
6. Milch RA. Studies of alcaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am J Hum Genet 1960;12:76-85.
7. La Du BN, Zannoni VG, Laster L, et al. The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 1958;230:251-60.
8. Zannoni VG, Lomtevas N, Goldfiner S. Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim Biophys Acta 1969;177:94-105.
9. Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of alkaptonuria. J Clin Pathol 2013;66:367-73.
10. Lindstedt S, Holme E, Lock EA, et al. Treatment of hereditary tyrosinaemia type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 1992;340:813-17.
11. McKiernan PJ. Nitisinone in the treatment of hereditary tyrosinaemia type I. Drugs 2006;66:743-50.
12. Suwannarat P, O'Brien K, Perry MB, et al. Use of nitisinone in patients with Alkaptonuria. Metab 2005;54:719-28.
13. Introne WJ, Perry MB, Troendle J, et al. A 3-year randomized therapeutic trial of nitisinone in Alkaptonuria. Mol Genet Metab 2011;103:307-14.
14. Preston AJ, Keenan CM, Sutherland H, et al. Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 2014;73:284-9.
15. Hughes AT, Milan AM, Christensen P, et al. Urine homogensitic acid and tyrosine simultaneous analysis by liquid chromatography tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2014;963:106-12.
16. Stewart RM, Briggs MC, Jarvis JC, et al. Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: A Case Report. JIMD Rep 2014. Published Online First. doi:10.1007/8904-2014-307
17. Tinti L, Taylor AM, Santucci A, et al. Development of an in vitro model to investigate joint ochronosis in alkaptonuria. Rheumatology (Oxford) 2011;50:271-7.