Rare Disorders

Bayesian modeling and simulation to inform rare disease drug development early decision-making: Application to Duchenne muscular dystrophy

Janelle L. Lennie, John T. Mondick, Marc R. Gastonguay. PLoS One. 2022 Apr 28;17(4):e0247286. doi: 10.1371/journal.pone.0247286.

A Pharmacokinetic Analysis of Tobramycin in Patients Less than Five Years of Age with Cystic Fibrosis: Assessment of Target Attainment with Extended-Interval Dosing through Simulationc

Kevin J. Downes, Austyn Grim, Laura Shanley, Ronald C. Rubenstein, Athena F. Zuppa, Marc R. Gastonguay. Antimicrob Agents Chemother. 2022;66(5):e0237721.

Exposure-response analysis of efficacy and safety for pexidartinib in patients with tenosynovial giant cell tumor (TGCT)

Yin O, Zahir H, French J, Polhamus D, Wang X, Van de Sande M, Tap WD, Gelderblom H, Wagner AJ, Healey JH, Greenberg J, Shuster D, Stacchiotti S. CPT: Pharmacometrics & Systems Pharmacology. 2021101422– 1432. doi:10.1002/psp4.12712

Latent process model of the 6-minute walk test in Duchenne muscular dystrophy

Lennie, J.L., Mondick, J.T. & Gastonguay, M.R. Latent process model of the 6-minute walk test in Duchenne muscular dystrophy. J Pharmacokinet Pharmacodyn (2020).

Exposure-Response Analysis of Efficacy and Safety for Pexidartinib in Patients With Tenosynovial Giant Cell Tumor (TGCT)

Ophelia Yin, Jonathan French, Daniel Polhamus, Hamim Zahir, Michiel van de Sande, William D. Tap, Hans Gelderblom, Andrew J. Wagner, Jon Greenberg, Dale Shuster, Silvia Stacchiotti

Poster presented at 2019 American Conference on Pharmacometrics (ACoP10) in Orlando, FL. 23 October 2019.

A latent variable disease progression model for Duchenne muscular dystrophy

Hajjar J. Poster presented at 2018 American Conference on Pharmacometrics (ACoP9). San Diego, CA. 9 Oct 2018. Abstract #T-011.

Population pharmacokinetic modeling of enzyme replacement therapy ATB200 and pharmacological chaperone AT2221 in adult patients with Pompe Disease and simulation to predict adolescent exposures

Hajjar J. Poster presented at 2018 Annual Meeting of the American College of Clinical Pharmacology. Bethesda, MD. 23 Sep 2018.

Pharmacokinetic & pharmacodynamic modeling and simulation of recombinant human arylsulfatase A in patients with metachromatic leukodystrophy: a preliminary evaluation

Troy S, Wasilewski M, Godfrey CJ. Poster presented at the 14th Annual WORLDSymposium. San Diego, CA. 5-9 February 2018.

Interactive simulation-based assessment of “go/no-go” decision making in Duchenne muscular dystrophy clinical trials

Hajjar J, French JL, Gastonguay MR.  Presented at the 7th American Conference on Pharmacometrics (ACoP), Bellevue, WA; October 2016.

Modeling Duchenne muscular dystrophy (DMD) disease progression as assessed by the 6-minute walk test.

Hajjar J, Fisher J, Gastonguay MR.  Presented at the Annual Meeting of the Population Approach Group in Europe (PAGE), Lisboa, June 2016.

Dose-response and exposure-response modeling of alpha-1 proteinase inhibitor (A1-PI) in patients with A1-PI deficiency based on RAPID and RAPID extension trials

Rogers JA, Tortorici MA, Viti O, Brexon M, Sandhaus RA, Burdon J, Piitulainen E, Seersholm N, Stocks J, McElvaney NG, Chapman KR, Edelman JM.  Presented at the American Society for Clinical Pharmacology and Therapeutics (ASCPT) Annual Meeting, San Diego, CA, March 2016.

Trends in the application of pharmacometric modeling and simulation in the development of orphan drugs in the 21st century

Hajjar J, Fisher J, Gastonguay MR.  Presented at the 6th American Conference on Pharmacometrics (ACoP), Arlington, VA; October 2015.

Modeling & simulation: Filling the knowledge gap in rare diseases. Return on Investment on the Utilization of Systems Pharmacology and pharmacometrics in drug development for rare diseases: challenges and opportunities

Gastonguay MR and Godfrey CJ.  American College of Clinical Pharmacology (ACCP) Workshop, September 26, 2015.

Malabsorption blood test: Assessing fat absorption in patients with cystic fibrosis and pancreatic insufficiency

Mascarenhas MR, Mondick J, Barrett JS, Wilson M, Stallings VA, Schall JI.  The Journal of Clinical Pharmacology, 55: 854–865. doi:10.1002/jcph.484