Publications
This section contains documents and links to selected publications sponsored by RRD.
Please note that information regarding pipeline products or investigational uses does not imply FDA approval for these products or uses, nor does it establish their safety or efficacy. There is no guarantee that pipeline products or investigational uses will obtain FDA approval. RRD does not endorse or recommend using its medications in a way that conflicts with FDA-approved labeling.
Oncology
Idiopathic Multicentric Castleman Disease
Erratum for: Siltuximab is associated with improved progression-free survival in idiopathic multicentric Castleman disease.
van Rhee F, Rosenthal A, Kanhai K, et al.
Blood Adv. 2022; 6(16):4773-4781. doi:https://doi.org/10.1182/bloodadvances.2023010152
Siltuximab administration results in spurious IL-6 elevation in peripheral blood.
Mango NA, Pierson SK, Bustamante M, et al.
Am J Hematol. 2024;99(1):E15-E18. doi:10.1002/ajh.27132
Idiopathic multicentric Castleman disease treated with siltuximab for 15 years: a case report.
Lang E, Sande B, Brodkin S, van Rhee F.
Ther Adv Hematol. 2022;13:20406207221082552. doi:10.1177/20406207221082552
Siltuximab is associated with improved progression-free survival in idiopathic multicentric Castleman disease.
van Rhee F, Rosenthal A, Kanhai K, et al.
Blood Adv. 2022;6(16):4773-4781. doi:10.1182/bloodadvances.2022007112
Long-term safety of siltuximab in patients with idiopathic multicentric Castleman disease: a prespecified, open-label, extension analysis of two trials.
van Rhee F, Casper C, Voorhees PM, et al.
Lancet Haematol. 2020;7(3):e209-e217. doi: 10.1016/S2352-3026(19)30257-1
Siltuximab for multicentric Castleman's disease: a randomised, double-blind, placebo-controlled trial.
van Rhee F, Wong RS, Munshi N, et al.
Lancet Oncol. 2014;15(9):966-974. doi:10.1016/S1470-2045(14)70319-5
Siltuximab
Prescribing InformationErratum for: Siltuximab is associated with improved progression-free survival in idiopathic multicentric Castleman disease.
van Rhee F, Rosenthal A, Kanhai K, et al.
Blood Adv. 2022; 6(16):4773-4781. doi:https://doi.org/10.1182/bloodadvances.2023010152
Siltuximab administration results in spurious IL-6 elevation in peripheral blood.
Mango NA, Pierson SK, Bustamante M, et al.
Am J Hematol. 2024;99(1):E15-E18. doi:10.1002/ajh.27132
Idiopathic multicentric Castleman disease treated with siltuximab for 15 years: a case report.
Lang E, Sande B, Brodkin S, van Rhee F.
Ther Adv Hematol. 2022;13:20406207221082552. doi:10.1177/20406207221082552
Siltuximab is associated with improved progression-free survival in idiopathic multicentric Castleman disease.
van Rhee F, Rosenthal A, Kanhai K, et al.
Blood Adv. 2022;6(16):4773-4781. doi:10.1182/bloodadvances.2022007112
Long-term safety of siltuximab in patients with idiopathic multicentric Castleman disease: a prespecified, open-label, extension analysis of two trials.
van Rhee F, Casper C, Voorhees PM, et al.
Lancet Haematol. 2020;7(3):e209-e217. doi: 10.1016/S2352-3026(19)30257-1
Siltuximab for multicentric Castleman's disease: a randomised, double-blind, placebo-controlled trial.
van Rhee F, Wong RS, Munshi N, et al.
Lancet Oncol. 2014;15(9):966-974. doi:10.1016/S1470-2045(14)70319-5
Endocrinology
Acromegaly
Long-term efficacy and safety of pasireotide in patients with acromegaly: 14 years of single-center real-world experience.
Gadelha M, Marques NV, Fialho C, et al.
J Clin Endocrinol Metab. 2023;108(12):e1571-e1579. doi:10.1210/clinem/dgad378
Long-term, real-world experience of pasireotide dose reduction in patients with acromegaly.
Marques NV, Wildemberg LEA, Gadelha MR.
Endocr Connect. 2023;12(10):e230155. doi:10.1530/EC-23-0155
Managing pasireotide-associated hyperglycemia: a randomized, open-label, phase IV study.
Samson SL, Gu F, Feldt-Rasmussen U, et al.
Pituitary. 2021;24(6):887-903. doi:10.1007/s11102-021-01161-4
Evaluation of the efficacy and safety of switching to pasireotide in patients with acromegaly inadequately controlled with first-generation somatostatin analogs.
Gadelha M, Bex M, Colao A, et al.
Front Endocrinol. 2020;10:931. doi:10.3389/fendo.2019.00931
Pasireotide for acromegaly: long-term outcomes from an extension to the phase III PAOLA study.
Colao A, Bronstein MD, Brue T, et al.
Eur J Endocrinol. 2020;182(6):583. doi:10.1530/EJE-19-0762
Pasireotide versus continued treatment with octreotide or lanreotide in patients with inadequately controlled acromegaly (PAOLA): a randomised, phase 3 trial.
Gadelha MR, Bronstein MD, Brue T, et al.
Lancet Diabetes Endocrinol. 2014;2(11):875-884. doi:10.1016/s2213-8587(14)70169-x
Pasireotide versus octreotide in acromegaly: a head-to-head superiority study.
Colao A, Bronstein MD, Freda P, et al.
J Clin Endocrinol Metab. 2014;99(3):791-799. doi:10.1210/jc.2013-2480
Cushing's Disease
Improvement in clinical features of hypercortisolism during osilodrostat treatment: findings from the phase III LINC 3 trial in Cushing's disease.
Pivonello R, Fleseriu M, Newell-Price J, et al.
J Endocrinol Invest. 2024;47(10):2437-2448. doi:10.1007/s40618-024-02359-6
Osilodrostat treatment in patients with Cushing's disease of asian or non-asian origin: a pooled analysis of two phase III randomized trials (LINC 3 and LINC 4).
Shimatsu A, Biller BM, Fleseriu M, et al.
Endocr J. 2024;71(12):1103-1123. doi:10.1507/endocrj.EJ24-0153
Predictive factors and the management of hyperglycemia in patients with acromegaly and Cushing's disease receiving pasireotide treatment: post hoc analyses from the SOM230B2219 study.
Feldt-Rasmussen U, Bolanowski M, Zhang SL, et al.
Front Endocrinol (Lausanne). 2024;15:1250822. doi:10.3389/fendo.2024.1250822
Long-term efficacy and safety of osilodrostat in patients with Cushing’s disease: results from the LINC 4 study extension.
Gadelha M, Snyder PJ, Witek P, et al.
Front Endocrinol. 2023;14:1-14. doi:10.3389/fendo.2023.1236465
Selectivity of osilodrostat as an inhibitor of human steroidogenic cytochromes P450.
Valentín-Goyco J, Liu J, Peng HM, Oommen J, Auchus RJ.
J Steroid Biochem Mol Biol. 2023;231:106316. doi:10.1016/j.jsbmb.2023.106316
Long-term efficacy and safety of osilodrostat in Cushing's disease: final results from a phase II study with an optional extension phase (LINC 2)
Fleseriu M, Biller BMK, Bertherat J, et al.
Pituitary. 2022;25(6):959-970. doi:10.1007/s11102-022-01280-6
Long-term efficacy and safety of osilodrostat in Cushing's disease: final results from a phase II study with an optional extension phase (LINC 2).
Fleseriu M, Biller BMK, Bertherat J, et al.
Pituitary. 2022;25(6):959-970. doi:10.1007/s11102-022-01280-6
Long-term outcomes of osilodrostat in Cushing's disease: LINC 3 study extension.
Fleseriu M, Newell-Price J, Pivonello R, et al.
Eur J Endocrinol. 2022;187(4):531-541. doi:10.1530/EJE-22-0317
Randomized trial of osilodrostat for the treatment of Cushing disease.
Gadelha M, Bex M, Feelders RA, et al.
J Clin Endocrinol Metab. 2022;107(7):e2882-e2895. doi:10.1210/clinem/dgac178
Managing pasireotide-associated hyperglycemia: a randomized, open-label, phase IV study.
Samson SL, Gu F, Feldt-Rasmussen U, et al.
Pituitary. 2021;24(6):887-903. doi:10.1007/s11102-021-01161-4
Efficacy and safety of osilodrostat in patients with Cushing's disease (LINC 3): a multicentre phase III study with a double-blind, randomised withdrawal phase.
Pivonello R, Fleseriu M, Newell-Price J, et al.
Lancet Diabetes Endocrinol. 2020;8(9):748-761. doi:10.1016/s2213-8587(20)30240-0
Pasireotide treatment significantly reduces tumor volume in patients with Cushing's disease: results from a phase 3 study.
Lacroix A, Gu F, Schopohl J, et al.
Pituitary. 2020;23(3):203-211. doi:10.1007/s11102-019-01021-2
Long-term efficacy and safety of once-monthly pasireotide in Cushing's disease: A phase III extension study.
Fleseriu M, Petersenn S, Biller BMK, et al.
Clin Endocrinol (Oxf). 2019;91(6):776-785. doi:10.1111/cen.14081
Osilodrostat has no clinically relevant effect on the pharmacokinetic (PK) profile of a monophasic oral contraceptive in healthy females receiving cortisol replacement therapy.
Breitschaft A, Tauchmanova L, Han K, et al.
J Endocr Soc. 2019;3(Supplement_1). doi:10.1210/js.2019-sat-443
Safety and efficacy of subcutaneous pasireotide in patients with Cushing's disease: results from an open-label, multicenter, single-arm, multinational, expanded-access study.
Fleseriu M, Iweha C, Salgado L, et al.
Front Endocrinol (Lausanne). 2019;10:436. doi:10.3389/fendo.2019.00436
Efficacy and safety of once-monthly pasireotide in Cushing's disease: a 12 month clinical trial.
Lacroix A, Gu F, Gallardo W, et al.
Lancet Diabetes Endocrinol. 2018;6(1):17-26. doi:10.1016/S2213-8587(17)30326-1
Long-term treatment of Cushing's disease with pasireotide: 5-year results from an open-label extension study of a phase III trial.
Petersenn S, Salgado LR, Schopohl J, et al.
Endocrine. 2017;57(1):156-165. doi:10.1007/s12020-017-1316-3
Osilodrostat, a potent oral 11β-hydroxylase inhibitor: 22-week, prospective, phase II study in Cushing's disease.
Fleseriu M, Pivonello R, Young J, et al.
Pituitary. 2016;19(2):138-148. doi:10.1007/s11102-015-0692-z
Pasireotide can induce sustained decreases in urinary cortisol and provide clinical benefit in patients with Cushing's disease: results from an open-ended, open-label extension trial.
Schopohl J, Gu F, Rubens R, et al. P
ituitary. 2015;18(5):604-612. doi:10.1007/s11102-014-0618-1
Pasireotide treatment significantly improves clinical signs and symptoms in patients with Cushing's disease: results from a phase III study.
Pivonello R, Petersenn S, Newell-Price J, et al.
Clin Endocrinol (Oxf). 2014;81(3):408-417. doi:10.1111/cen.12431
A 12-month phase 3 study of pasireotide in Cushing's disease.
Colao A, Petersenn S, Newell-Price J, et al.
N Engl J Med. 2012;366(10):914-924. doi:10.1056/NEJMoa1105743
Cushing's Syndrome
Efficacy and safety of osildrostat in paraneoplastic Cushing syndrome: a real-world multicenter study in France.
Dormoy A, Haissaguerre M, Vitellius G, et al.
J Clin Endocrinol Metab. 2023;108(6):1475-1487. doi:10.1210/clinem/dgac691
A multicenter, phase 2 study to evaluate the efficacy and safety of osilodrostat, a new 11β-hydroxylase inhibitor, in japanese patients with endogenous cushing's syndrome other than cushing's disease.
Tanaka T, Satoh F, Ujihara M, et al.
Endocr J. 2020;67(8):841-852. doi:10.1507/endocrj.EJ19-0617
Post-Bariatric Hypoglycemica
Counterregulatory responses to postprandial hypoglycemia after roux-en-y gastric bypass.
Øhrstrøm CC, Hansen DL, Kielgast UL, et al.
Surg Obes Relat Dis. 2021;17(1):55-63. doi:10.1016/j.soard.2020.08.037
Evidence for relationship between early dumping and postprandial hypoglycemia after roux-en-y gastric bypass.
Øhrstrøm CC, Worm D, Kielgast UL, Holst JJ, Hansen DL.
Obes Surg. 2020;30(3):1038-1045. doi:10.1007/s11695-020-04387-6
Postprandial hypoglycaemia after roux-en-y gastric bypass and the effects of acarbose, sitagliptin, verapamil, liraglutide and pasireotide.
Øhrstrøm CC, Worm D, Højager A, et al.
Diabetes Obes Metab. 2019;21(9):2142-2151. doi:10.1111/dom.13796
Osilodrostat
Prescribing InformationImprovement in clinical features of hypercortisolism during osilodrostat treatment: findings from the phase III LINC 3 trial in Cushing's disease.
Pivonello R, Fleseriu M, Newell-Price J, et al.
J Endocrinol Invest. 2024;47(10):2437-2448. doi:10.1007/s40618-024-02359-6
Osilodrostat treatment in patients with Cushing's disease of asian or non-asian origin: a pooled analysis of two phase III randomized trials (LINC 3 and LINC 4).
Shimatsu A, Biller BM, Fleseriu M, et al.
Endocr J. 2024;71(12):1103-1123. doi:10.1507/endocrj.EJ24-0153
Efficacy and safety of osildrostat in paraneoplastic Cushing syndrome: a real-world multicenter study in France.
Dormoy A, Haissaguerre M, Vitellius G, et al.
J Clin Endocrinol Metab. 2023;108(6):1475-1487. doi:10.1210/clinem/dgac691
Long-term efficacy and safety of osilodrostat in patients with Cushing’s disease: results from the LINC 4 study extension.
Gadelha M, Snyder PJ, Witek P, et al.
Front Endocrinol. 2023;14:1-14. doi:10.3389/fendo.2023.1236465
Selectivity of osilodrostat as an inhibitor of human steroidogenic cytochromes P450.
Valentín-Goyco J, Liu J, Peng HM, Oommen J, Auchus RJ.
J Steroid Biochem Mol Biol. 2023;231:106316. doi:10.1016/j.jsbmb.2023.106316
Long-term efficacy and safety of osilodrostat in Cushing's disease: final results from a phase II study with an optional extension phase (LINC 2)
Fleseriu M, Biller BMK, Bertherat J, et al.
Pituitary. 2022;25(6):959-970. doi:10.1007/s11102-022-01280-6
Long-term efficacy and safety of osilodrostat in Cushing's disease: final results from a phase II study with an optional extension phase (LINC 2).
Fleseriu M, Biller BMK, Bertherat J, et al.
Pituitary. 2022;25(6):959-970. doi:10.1007/s11102-022-01280-6
Long-term outcomes of osilodrostat in Cushing's disease: LINC 3 study extension.
Fleseriu M, Newell-Price J, Pivonello R, et al.
Eur J Endocrinol. 2022;187(4):531-541. doi:10.1530/EJE-22-0317
Randomized trial of osilodrostat for the treatment of Cushing disease.
Gadelha M, Bex M, Feelders RA, et al.
J Clin Endocrinol Metab. 2022;107(7):e2882-e2895. doi:10.1210/clinem/dgac178
A multicenter, phase 2 study to evaluate the efficacy and safety of osilodrostat, a new 11β-hydroxylase inhibitor, in japanese patients with endogenous cushing's syndrome other than cushing's disease.
Tanaka T, Satoh F, Ujihara M, et al.
Endocr J. 2020;67(8):841-852. doi:10.1507/endocrj.EJ19-0617
Efficacy and safety of osilodrostat in patients with Cushing's disease (LINC 3): a multicentre phase III study with a double-blind, randomised withdrawal phase.
Pivonello R, Fleseriu M, Newell-Price J, et al.
Lancet Diabetes Endocrinol. 2020;8(9):748-761. doi:10.1016/s2213-8587(20)30240-0
Osilodrostat has no clinically relevant effect on the pharmacokinetic (PK) profile of a monophasic oral contraceptive in healthy females receiving cortisol replacement therapy.
Breitschaft A, Tauchmanova L, Han K, et al.
J Endocr Soc. 2019;3(Supplement_1). doi:10.1210/js.2019-sat-443
Osilodrostat, a potent oral 11β-hydroxylase inhibitor: 22-week, prospective, phase II study in Cushing's disease.
Fleseriu M, Pivonello R, Young J, et al.
Pituitary. 2016;19(2):138-148. doi:10.1007/s11102-015-0692-z
Pasireotide for injectable suspension
Prescribing InformationPredictive factors and the management of hyperglycemia in patients with acromegaly and Cushing's disease receiving pasireotide treatment: post hoc analyses from the SOM230B2219 study.
Feldt-Rasmussen U, Bolanowski M, Zhang SL, et al.
Front Endocrinol (Lausanne). 2024;15:1250822. doi:10.3389/fendo.2024.1250822
Long-term efficacy and safety of pasireotide in patients with acromegaly: 14 years of single-center real-world experience.
Gadelha M, Marques NV, Fialho C, et al.
J Clin Endocrinol Metab. 2023;108(12):e1571-e1579. doi:10.1210/clinem/dgad378
Long-term, real-world experience of pasireotide dose reduction in patients with acromegaly.
Marques NV, Wildemberg LEA, Gadelha MR.
Endocr Connect. 2023;12(10):e230155. doi:10.1530/EC-23-0155
Managing pasireotide-associated hyperglycemia: a randomized, open-label, phase IV study.
Samson SL, Gu F, Feldt-Rasmussen U, et al.
Pituitary. 2021;24(6):887-903. doi:10.1007/s11102-021-01161-4
Evaluation of the efficacy and safety of switching to pasireotide in patients with acromegaly inadequately controlled with first-generation somatostatin analogs.
Gadelha M, Bex M, Colao A, et al.
Front Endocrinol. 2020;10:931. doi:10.3389/fendo.2019.00931
Pasireotide for acromegaly: long-term outcomes from an extension to the phase III PAOLA study.
Colao A, Bronstein MD, Brue T, et al.
Eur J Endocrinol. 2020;182(6):583. doi:10.1530/EJE-19-0762
Long-term efficacy and safety of once-monthly pasireotide in Cushing's disease: A phase III extension study.
Fleseriu M, Petersenn S, Biller BMK, et al.
Clin Endocrinol (Oxf). 2019;91(6):776-785. doi:10.1111/cen.14081
Efficacy and safety of once-monthly pasireotide in Cushing's disease: a 12 month clinical trial.
Lacroix A, Gu F, Gallardo W, et al.
Lancet Diabetes Endocrinol. 2018;6(1):17-26. doi:10.1016/S2213-8587(17)30326-1
Pasireotide versus continued treatment with octreotide or lanreotide in patients with inadequately controlled acromegaly (PAOLA): a randomised, phase 3 trial.
Gadelha MR, Bronstein MD, Brue T, et al.
Lancet Diabetes Endocrinol. 2014;2(11):875-884. doi:10.1016/s2213-8587(14)70169-x
Pasireotide versus octreotide in acromegaly: a head-to-head superiority study.
Colao A, Bronstein MD, Freda P, et al.
J Clin Endocrinol Metab. 2014;99(3):791-799. doi:10.1210/jc.2013-2480
Pasireotide injection
Prescribing InformationCounterregulatory responses to postprandial hypoglycemia after roux-en-y gastric bypass.
Øhrstrøm CC, Hansen DL, Kielgast UL, et al.
Surg Obes Relat Dis. 2021;17(1):55-63. doi:10.1016/j.soard.2020.08.037
Managing pasireotide-associated hyperglycemia: a randomized, open-label, phase IV study.
Samson SL, Gu F, Feldt-Rasmussen U, et al.
Pituitary. 2021;24(6):887-903. doi:10.1007/s11102-021-01161-4
Evidence for relationship between early dumping and postprandial hypoglycemia after roux-en-y gastric bypass.
Øhrstrøm CC, Worm D, Kielgast UL, Holst JJ, Hansen DL.
Obes Surg. 2020;30(3):1038-1045. doi:10.1007/s11695-020-04387-6
Pasireotide treatment significantly reduces tumor volume in patients with Cushing's disease: results from a phase 3 study.
Lacroix A, Gu F, Schopohl J, et al.
Pituitary. 2020;23(3):203-211. doi:10.1007/s11102-019-01021-2
Postprandial hypoglycaemia after roux-en-y gastric bypass and the effects of acarbose, sitagliptin, verapamil, liraglutide and pasireotide.
Øhrstrøm CC, Worm D, Højager A, et al.
Diabetes Obes Metab. 2019;21(9):2142-2151. doi:10.1111/dom.13796
Safety and efficacy of subcutaneous pasireotide in patients with Cushing's disease: results from an open-label, multicenter, single-arm, multinational, expanded-access study.
Fleseriu M, Iweha C, Salgado L, et al.
Front Endocrinol (Lausanne). 2019;10:436. doi:10.3389/fendo.2019.00436
Long-term treatment of Cushing's disease with pasireotide: 5-year results from an open-label extension study of a phase III trial.
Petersenn S, Salgado LR, Schopohl J, et al.
Endocrine. 2017;57(1):156-165. doi:10.1007/s12020-017-1316-3
Pasireotide can induce sustained decreases in urinary cortisol and provide clinical benefit in patients with Cushing's disease: results from an open-ended, open-label extension trial.
Schopohl J, Gu F, Rubens R, et al. P
ituitary. 2015;18(5):604-612. doi:10.1007/s11102-014-0618-1
Pasireotide treatment significantly improves clinical signs and symptoms in patients with Cushing's disease: results from a phase III study.
Pivonello R, Petersenn S, Newell-Price J, et al.
Clin Endocrinol (Oxf). 2014;81(3):408-417. doi:10.1111/cen.12431
A 12-month phase 3 study of pasireotide in Cushing's disease.
Colao A, Petersenn S, Newell-Price J, et al.
N Engl J Med. 2012;366(10):914-924. doi:10.1056/NEJMoa1105743
Metabolic
Acute Intermittent Porphyria
Acute hepatic porphyrias: recommendations for diagnosis and management with real-world examples.
Moghe A, Dickey A, Erwin A, et al.
Mol Genet Metab. 2023;140(3):107670. doi:10.1016/j.ymgme.2023.107670
Real-world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin.
Blaylock B, Epstein J, Stickler P.
J Med Econ. 2020;23(6):537-545. doi:10.1016/j.jval.2020.04.1234
Open-label study of hemin for acute porphyria: clinical practice implications.
Anderson KE, Collins S.
Am J Med. 2006;119(9):801.e19-801. doi:10.1016/j.amjmed.2006.05.026
Treatment with hematin in acute hepatic porphyria.
McColl KE, Moore MR, Thompson OG, Goldberg A.
Q J Med. 1981;50(198):161-74. doi:https://pubmed.ncbi.nlm.nih.gov/7302116/
Hematin therapy in porphyric attacks.
Pierach CA, Bossenmaier I, Cardinal R, Weimer M, Watson C.
Klin Wochenschr. 1980;58(16):829-832. doi:10.1007/BF01491103
Hematin therapy for acute porphyria.
Lamon JM, Frykholm BC, Hess RA, Tschudy DP.
Medicine (Baltimore). 1979;58(3):252-269. doi:10.1097/00005792-197905000-00005
Use of hematin in the acute attack of the "inducible" hepatic prophyrias
Watson CJ, Pierach CA, Bossenmaier I, Cardinal R.
Adv Intern Med. 1978;23:265-286. doi:https://pubmed.ncbi.nlm.nih.gov/343541/
Cystinosis
Long-term follow-up of cystinosis patients treated with 0.55% cysteamine hydrochloride.
Liang H, Labbé A, Baudouin C, Plisson C, Giordano V.
Br J Ophthalmol. 2021;105(5):608-613. doi:10.1136/bjophthalmol-2020-316450
A new viscous cysteamine eye drops treatment for ophthalmic cystinosis: an open-label randomized comparative phase III pivotal study.
Liang H, Labbé A, Le Mouhaër J, Plisson C, Baudouin C.
Invest Ophthalmol Vis Sci. 2017;58(4):2275-2283. doi:10.1167/iovs.16-21080
A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study.
Labbé A, Baudouin C, Deschênes G, et al.
Mol Genet Metab. 2014;111(3):314-320. doi:10.1016/j.ymgme.2013.12.298
Homocystinuria
Betaine anhydrous in homocystinuria: results from the RoCH registry.
Valayannopoulos V, Schiff M, Guffon N, et al.
Orphanet J Rare Dis. 2019;14(1):66. doi:10.1186/s13023-019-1036-2
Methylmalonic Acidemia (MMA)
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, et al.
Orphanet J Rare Dis. 2021;16(1):422. doi:10.1186/s13023-021-02032-8
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: lessons from the N-carbamylglutamate consortium.
Ah Mew N, Cnaan A, McCarter R, et al.
Transl Sci Rare Dis. 2018;3(3-4):157-170. doi:10.3233/TRD-180031
N-acetylglutamate synthase (NAGS) Deficiency
The efficacy of carbamylglutamate impacts the nutritional management of patients with N-acetylglutamate synthase deficiency.
Singh RH, Bourdages MH, Kurtz A, et al.
Orphanet J Rare Dis. 2024;19(1):168. doi:10.1186/s13023-024-03167-0
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Häberle J, Moore MB, Haskins N, et al.
Hum Mutat. 2021;42(12):1624-1636. doi:10.1002/humu.24281
Propionic Acidemia (PA)
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, et al.
Orphanet J Rare Dis. 2021;16(1):422. doi:10.1186/s13023-021-02032-8
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: lessons from the N-carbamylglutamate consortium.
Ah Mew N, Cnaan A, McCarter R, et al.
Transl Sci Rare Dis. 2018;3(3-4):157-170. doi:10.3233/TRD-180031
Betaine anhydrous for oral solution
Prescribing InformationBetaine anhydrous in homocystinuria: results from the RoCH registry.
Valayannopoulos V, Schiff M, Guffon N, et al.
Orphanet J Rare Dis. 2019;14(1):66. doi:10.1186/s13023-019-1036-2
Carglumic acid
Prescribing InformationThe efficacy of carbamylglutamate impacts the nutritional management of patients with N-acetylglutamate synthase deficiency.
Singh RH, Bourdages MH, Kurtz A, et al.
Orphanet J Rare Dis. 2024;19(1):168. doi:10.1186/s13023-024-03167-0
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, et al.
Orphanet J Rare Dis. 2021;16(1):422. doi:10.1186/s13023-021-02032-8
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Häberle J, Moore MB, Haskins N, et al.
Hum Mutat. 2021;42(12):1624-1636. doi:10.1002/humu.24281
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: lessons from the N-carbamylglutamate consortium.
Ah Mew N, Cnaan A, McCarter R, et al.
Transl Sci Rare Dis. 2018;3(3-4):157-170. doi:10.3233/TRD-180031
Cysteamine ophthalmic solution
Prescribing InformationLong-term follow-up of cystinosis patients treated with 0.55% cysteamine hydrochloride.
Liang H, Labbé A, Baudouin C, Plisson C, Giordano V.
Br J Ophthalmol. 2021;105(5):608-613. doi:10.1136/bjophthalmol-2020-316450
A new viscous cysteamine eye drops treatment for ophthalmic cystinosis: an open-label randomized comparative phase III pivotal study.
Liang H, Labbé A, Le Mouhaër J, Plisson C, Baudouin C.
Invest Ophthalmol Vis Sci. 2017;58(4):2275-2283. doi:10.1167/iovs.16-21080
A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study.
Labbé A, Baudouin C, Deschênes G, et al.
Mol Genet Metab. 2014;111(3):314-320. doi:10.1016/j.ymgme.2013.12.298
Hemin for injection
Prescribing InformationAcute hepatic porphyrias: recommendations for diagnosis and management with real-world examples.
Moghe A, Dickey A, Erwin A, et al.
Mol Genet Metab. 2023;140(3):107670. doi:10.1016/j.ymgme.2023.107670
Real-world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin.
Blaylock B, Epstein J, Stickler P.
J Med Econ. 2020;23(6):537-545. doi:10.1016/j.jval.2020.04.1234
Open-label study of hemin for acute porphyria: clinical practice implications.
Anderson KE, Collins S.
Am J Med. 2006;119(9):801.e19-801. doi:10.1016/j.amjmed.2006.05.026
Treatment with hematin in acute hepatic porphyria.
McColl KE, Moore MR, Thompson OG, Goldberg A.
Q J Med. 1981;50(198):161-74. doi:https://pubmed.ncbi.nlm.nih.gov/7302116/
Hematin therapy in porphyric attacks.
Pierach CA, Bossenmaier I, Cardinal R, Weimer M, Watson C.
Klin Wochenschr. 1980;58(16):829-832. doi:10.1007/BF01491103
Hematin therapy for acute porphyria.
Lamon JM, Frykholm BC, Hess RA, Tschudy DP.
Medicine (Baltimore). 1979;58(3):252-269. doi:10.1097/00005792-197905000-00005
Use of hematin in the acute attack of the "inducible" hepatic prophyrias
Watson CJ, Pierach CA, Bossenmaier I, Cardinal R.
Adv Intern Med. 1978;23:265-286. doi:https://pubmed.ncbi.nlm.nih.gov/343541/
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Clinical Trials
Clinical trials are essential for developing safe and effective treatment for our patients. Our goal is to broaden efforts in the rare disease space, striving to improve our products.
