Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium
Rudebeck, Mattias, Scott, Ciarán, Rhodes, Nicholas P, van Kan, Christa, Olsson, Birgitta, Al-Sbou, Mohammed, Hall, Anthony K, Sireau, Nicolas, Ranganath, Lakshminarayan R
Published in Orphanet journal of rare diseases (14.12.2021)
Published in Orphanet journal of rare diseases (14.12.2021)
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Journal Article
Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases
del Ãlamo, Marta, Bührer, Christoph, Fisher, Dirk, Griese, Matthias, Lingor, Paul, Palladini, Giovanni, Sireau, Nicolas, Hivert, Virginie, Sangiorgi, Luca, Guillot, Florence, Halftermeyer, Juliane, Soucková, Lenka, Nosková, Kristýna, Demlová, Regina
Published in Current controlled trials in cardiovascular medicine (15.09.2022)
Published in Current controlled trials in cardiovascular medicine (15.09.2022)
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Journal Article
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Norman, Brendan P., Alsbou, Mohammed, Imrich, Richard, Gornall, Matthew, Sireau, Nicolas, Gallagher, James A., Jackson, Richard
Published in JIMD reports (01.01.2022)
Published in JIMD reports (01.01.2022)
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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, Lakshminarayan R, Milan, Anna M, Hughes, Andrew T, Dutton, John J, Fitzgerald, Richard, Briggs, Michael C, Bygott, Helen, Psarelli, Eftychia E, Cox, Trevor F, Gallagher, James A, Jarvis, Jonathan C, van Kan, Christa, Hall, Anthony K, Laan, Dinny, Olsson, Birgitta, Szamosi, Johan, Rudebeck, Mattias, Kullenberg, Torbjörn, Cronlund, Arvid, Svensson, Lennart, Junestrand, Carin, Ayoob, Hana, Timmis, Oliver G, Sireau, Nicolas, Le Quan Sang, Kim-Hanh, Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Nemethova, Martina, Zatkova, Andrea, McCaffrey, Judith, Christensen, Peter, Ross, Gordon, Imrich, Richard, Rovensky, Jozef
Published in Annals of the rheumatic diseases (01.02.2016)
Published in Annals of the rheumatic diseases (01.02.2016)
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Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
Ranganath, Lakshminarayan R, Psarelli, Eftychia Eirini, Arnoux, Jean-Baptiste, Braconi, Daniela, Briggs, Michael, Bröijersén, Anders, Loftus, Nadia, Bygott, Helen, Cox, Trevor F, Davison, Andrew S, Dillon, Jane P, Fisher, Michael, FitzGerald, Richard, Genovese, Federica, Glasova, Helena, Hall, Anthony K, Hughes, Andrew T, Hughes, Juliette H, Imrich, Richard, Jarvis, Jonathan C, Khedr, Milad, Laan, Dinny, Le Quan Sang, Kim-Hanh, Luangrath, Emily, Lukáčová, Ol'ga, Milan, Anna M, Mistry, Alpesh, Mlynáriková, Vanda, Norman, Brendan P, Olsson, Birgitta, Rhodes, Nicholas P, Rovenský, Jozef, Rudebeck, Mattias, Santucci, Annalisa, Shweihdi, Ella, Scott, Ciarán, Sedláková, Jana, Sireau, Nicolas, Stančík, Roman, Szamosi, Johan, Taylor, Sophie, van Kan, Christa, Vinjamuri, Sobhan, Vrtíková, Eva, Webb, Chris, West, Elizabeth, Záňová, Elizabeth, Zatkova, Andrea, Gallagher, James A
Published in The lancet. Diabetes & endocrinology (01.09.2020)
Published in The lancet. Diabetes & endocrinology (01.09.2020)
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Journal Article
Alkaptonuria: An example of a “fundamental disease”—A rare disease with important lessons for more common disorders
Gallagher, James A., Dillon, Jane P., Sireau, Nicolas, Timmis, Oliver, Ranganath, Lakshminarayan R.
Published in Seminars in cell & developmental biology (01.04.2016)
Published in Seminars in cell & developmental biology (01.04.2016)
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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy
Nemethova, Martina, Radvanszky, Jan, Kadasi, Ludevit, Ascher, David B, Pires, Douglas E V, Blundell, Tom L, Porfirio, Berardino, Mannoni, Alessandro, Santucci, Annalisa, Milucci, Lia, Sestini, Silvia, Biolcati, Gianfranco, Sorge, Fiammetta, Aurizi, Caterina, Aquaron, Robert, Alsbou, Mohammed, Lourenço, Charles Marques, Ramadevi, Kanakasabapathi, Ranganath, Lakshminarayan R, Gallagher, James A, van Kan, Christa, Hall, Anthony K, Olsson, Birgitta, Sireau, Nicolas, Ayoob, Hana, Timmis, Oliver G, Sang, Kim-Hanh Le Quan, Genovese, Federica, Imrich, Richard, Rovensky, Jozef, Srinivasaraghavan, Rangan, Bharadwaj, Shruthi K, Spiegel, Ronen, Zatkova, Andrea
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Journal Article
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
Ranganath, Lakshminarayan R., Milan, Anna M., Hughes, Andrew T., Khedr, Milad, Davison, Andrew S., Shweihdi, Ella, Norman, Brendan P., Hughes, Juliette H., Bygott, Helen, Luangrath, Emily, Fitzgerald, Richard, Psarelli, Eftychia E., Kan, Christa, Laan, Dinny, Olsson, Birgitta, Rudebeck, Mattias, Mankowitz, Louise, Sireau, Nicolas, Arnoux, Jean‐Baptiste, Le Quan Sang, Kim‐Hanh, Jarvis, Jonathan C., Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Zatkova, Andrea, Glasova, Helena, Stančík, Roman, Imrich, Richard, Rhodes, Nicholas P., Gallagher, James A.
Published in Journal of inherited metabolic disease (01.07.2020)
Published in Journal of inherited metabolic disease (01.07.2020)
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Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria
Arnoux, Jean-Baptiste, Le Quan Sang, Kim-Hanh, Brassier, Anais, Grisel, Coraline, Servais, Aude, Wippf, Julien, Dubois, Sandrine, Sireau, Nicolas, Job-Deslandre, Chantal, Ranganath, Lakshminarayan, de Lonlay, Pascale
Published in Journal of Inherited Metabolic Disease (01.09.2015)
Published in Journal of Inherited Metabolic Disease (01.09.2015)
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Book Review
Subclinical ochronosis features in alkaptonuria: a cross-sectional study
Cox, Trevor, Psarelli, Eftychia Eirini, Taylor, Sophie, Shepherd, Hannah Rose, Robinson, Mark, Barton, Gabor, Mistry, Alpesh, Genovese, Federica, Braconi, Daniela, Giustarini, Daniela, Rossi, Ranieri, Santucci, Annalisa, Khedr, Milad, Hughes, Andrew, Milan, Anna, Taylor, Leah Frances, West, Elizabeth, Sireau, Nicolas, Dillon, Jane Patricia, Rhodes, Nicholas, Gallagher, James Anthony, Ranganath, Lakshminarayan
Published in BMJ innovations (01.04.2019)
Published in BMJ innovations (01.04.2019)
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Journal Article
TREATMENTS FOR OBSESSIVE COMPULSIVE DISORDER
GARZYA, Vincenzo, SIREAU, Nicolas Thierry, TANCOCK, Jon, ROBBINS, Trevor
Year of Publication 15.02.2024
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Year of Publication 15.02.2024
Patent
OXADIAZOLE COMPOUNDS FOR USE IN THE TREATMENT OF OBSESSIVE COMPULSIVE DISORDER
GARZYA, Vincenzo, SIREAU, Nicolas Thierry, TANCOCK, Jon, ROBBINS, Trevor
Year of Publication 08.02.2024
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Year of Publication 08.02.2024
Patent
Anti-infective agents
Norman B Roberts, Lakshminarayan Ranganath, Nicolas Thierry Sireau, James A Gallagher, George Bou-Gharios
Year of Publication 08.12.2021
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Year of Publication 08.12.2021
Patent