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Filters applied: Meta-Analysis, Randomized Controlled Trial. Clear all
Page 1
Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.
Genovese F, Frederiksen P, Bay-Jensen AC, Karsdal MA, Milan AM, Olsson B, Rudebeck M, Gallagher JA, Ranganath LR. Genovese F, et al. Int J Mol Sci. 2023 Jul 1;24(13):10996. doi: 10.3390/ijms241310996. Int J Mol Sci. 2023. PMID: 37446173 Free PMC article. Clinical Trial.
The biomarkers of type II collagen remodelling decreased over time in the nitisinone group: C2M showed a 9.7% decline at Year 1, and levels then remained stable over the following visits; CTX-II showed a 26% decline at Year 3 and 4 in the nitisinone-treated patients …
The biomarkers of type II collagen remodelling decreased over time in the nitisinone group: C2M showed a 9.7% decline at Year 1, and …
Efficacy and safety of Nitisinone for patients with alkaptonuria: A systematic review with metanalysis.
Mayrink FD, Dorneles G, da Silva IM, Areda CA. Mayrink FD, et al. Mol Genet Metab. 2025 May;145(1):109099. doi: 10.1016/j.ymgme.2025.109099. Epub 2025 Mar 26. Mol Genet Metab. 2025. PMID: 40157162
AIM: We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria (AKU). METHODS: Randomized clinical trials that assessed the impact of nitisinone on urinary and serum homogentisic acid (HGA), qual …
AIM: We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria …
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.
Imrich R, Sedláková J, Úlehlová M, Gornall M, Jackson R, Olsson B, Rudebeck M, Gallagher J, Lukáčová O, Mlynáriková V, Stančík R, Vrtíková E, Záňová E, Zaťková A, Arnoux JB, Rovenský J, Luangrath E, Bygott H, Khedr M, Ranganath LR. Imrich R, et al. RMD Open. 2022 Oct;8(2):e002422. doi: 10.1136/rmdopen-2022-002422. RMD Open. 2022. PMID: 36270742 Free PMC article. Clinical Trial.
OBJECTIVES: Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking. METHODS: Patients with AKU aged 25 years or older were randomly …
OBJECTIVES: Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective da …
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Ranganath LR, Psarelli EE, Arnoux JB, Braconi D, Briggs M, Bröijersén A, Loftus N, Bygott H, Cox TF, Davison AS, Dillon JP, Fisher M, FitzGerald R, Genovese F, Glasova H, Hall AK, Hughes AT, Hughes JH, Imrich R, Jarvis JC, Khedr M, Laan D, Le Quan Sang KH, Luangrath E, Lukáčová O, Milan AM, Mistry A, Mlynáriková V, Norman BP, Olsson B, Rhodes NP, Rovenský J, Rudebeck M, Santucci A, Shweihdi E, Scott C, Sedláková J, Sireau N, Stančík R, Szamosi J, Taylor S, van Kan C, Vinjamuri S, Vrtíková E, Webb C, West E, Záňová E, Zatkova A, Gallagher JA. Ranganath LR, et al. Lancet Diabetes Endocrinol. 2020 Sep;8(9):762-772. doi: 10.1016/S2213-8587(20)30228-X. Epub 2020 Aug 18. Lancet Diabetes Endocrinol. 2020. PMID: 32822600 Clinical Trial.
The aim of SONIA 2 was to investigate the efficacy and safety of once-daily nitisinone for reducing HGA excretion in patients with alkaptonuria and to evaluate whether nitisinone has a clinical benefit. ...Nitisinone decreased ochronosis and improved clinical …
The aim of SONIA 2 was to investigate the efficacy and safety of once-daily nitisinone for reducing HGA excretion in patients with al …
Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria.
Milan AM, Hughes AT, Davison AS, Khedr M, Rovensky J, Psarelli EE, Cox TF, Rhodes NP, Gallagher JA, Ranganath LR. Milan AM, et al. Sci Rep. 2019 Jul 11;9(1):10024. doi: 10.1038/s41598-019-46033-x. Sci Rep. 2019. PMID: 31296884 Free PMC article. Clinical Trial.

The sum of quantities of urine metabolites (PA, TYR, HPPA, HPLA and HGA) were similar pre- and post-nitisinone. The sum of total body water metabolites were significantly higher post-nitisinone (p < 0.0001) at all doses. Similarly, combined 24 hr urine:total body

…
The sum of quantities of urine metabolites (PA, TYR, HPPA, HPLA and HGA) were similar pre- and post-nitisinone. The sum of total body …
Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.
Spears KR, Rossignol F, Perry MB, Kayser MA, Suwannarat P, O'Brien KE, Bryant JC, Greenwood WF, Fuller S, Gahl WA, Introne WJ. Spears KR, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108562. doi: 10.1016/j.ymgme.2024.108562. Epub 2024 Aug 3. Mol Genet Metab. 2024. PMID: 39121793 Clinical Trial.
As such, nitisinone is a proposed treatment for alkaptonuria. A randomized clinical trial of nitisinone in alkaptonuria confirmed the biochemical efficacy and tolerability of nitisinone for patients with alkaptonuria but the selected primary outcome did not d …
As such, nitisinone is a proposed treatment for alkaptonuria. A randomized clinical trial of nitisinone in alkaptonuria confir …
Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria.
Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Norman BP, Bygott H, Luangrath E, Judd S, Soulsby C, Olsson B, Imrich R. Ranganath LR, et al. Nutrients. 2024 Aug 15;16(16):2722. doi: 10.3390/nu16162722. Nutrients. 2024. PMID: 39203858 Free PMC article. Clinical Trial.
INTRODUCTION: Protein nutrition disorder in alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone therapy and increased tyrosine (TYR) during nitisinone therapy, may benefit from dietetic intervention. The aim of this study was to char …
INTRODUCTION: Protein nutrition disorder in alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone ther …
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.
Ranganath LR, Milan AM, Hughes AT, Dutton JJ, Fitzgerald R, Briggs MC, Bygott H, Psarelli EE, Cox TF, Gallagher JA, Jarvis JC, van Kan C, Hall AK, Laan D, Olsson B, Szamosi J, Rudebeck M, Kullenberg T, Cronlund A, Svensson L, Junestrand C, Ayoob H, Timmis OG, Sireau N, Le Quan Sang KH, Genovese F, Braconi D, Santucci A, Nemethova M, Zatkova A, McCaffrey J, Christensen P, Ross G, Imrich R, Rovensky J. Ranganath LR, et al. Ann Rheum Dis. 2016 Feb;75(2):362-7. doi: 10.1136/annrheumdis-2014-206033. Epub 2014 Dec 4. Ann Rheum Dis. 2016. PMID: 25475116 Clinical Trial.
Forty patients were randomised into five groups of eight patients each, with groups receiving no treatment or 1 mg, 2 mg, 4 mg and 8 mg of nitisinone. FINDINGS: A clear dose-response relationship was observed between nitisinone and the urinary excretion of HGA. ...D …
Forty patients were randomised into five groups of eight patients each, with groups receiving no treatment or 1 mg, 2 mg, 4 mg and 8 mg of …
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. Introne WJ, et al. Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6. Mol Genet Metab. 2011. PMID: 21620748 Free PMC article. Clinical Trial.
Previously suggested therapies have failed to show benefit, and management remains symptomatic. Nitisinone, a potent inhibitor of the second enzyme in the tyrosine catabolic pathway, is considered a potential therapy; proof-of-principle studies showed 95% reduction in urin …
Previously suggested therapies have failed to show benefit, and management remains symptomatic. Nitisinone, a potent inhibitor of the …

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