Publications

• Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy [American Academy of Neurology March 2024]

  Authors: Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL, Hoffman EP.

• Developing a Natural History Model for Duchenne Muscular Dystrophy [PharmacoEconomics - Open January 2024]

  Authors: Broomfield J, Hill M, Chandler F, Crowther MJ, Godfrey J, Guglieri M, Hastie J, Larkindale J, Mumby-Croft J, Reuben E, Woodcock F, Abrams KR; Project HERCULES, the Cooperative International Neuromuscular Research Group investigators, Duchenne Regulatory Science Consortium members.

• The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy [Journal of Neuromuscular Diseases March 2024]

  Authors: Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E.

• Findings from the Longitudinal CINRG Becker Natural History Study [Journal of Neuromuscular Diseases January 2024]

  Authors: Clemens P, Gordish-Dressman H, Niizawaa G, Gornic K, Guglieri M, Connolly A, Wicklund M, Bertorini T, Mah J, Thangarajh M, Smith E, Kuntz N, McDonald C, Henricson EK, Upadhyayula S, Byrne B, Manousakis G, Harper A, Iannaccone S, and Dang U

• Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1-Year Interim Results from Study SRP-9001-103 (ENDEAVOR) [Annals of Neurology August 2023]

  Authors: Zaidman CM, Proud CM, McDonald CM, Lehman KJ, Goedeker NL, Mason S, Murphy AP, Guridi M, Wang S, Reid C, Darton E, Wandel C, Lewis S, Malhotra J, Griffin DA, Potter RA, Rodino-Klapac LR, Mendell JR.

• Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy [Frontiers in Cell and Developmental Biology July 2023]

  Authors: Mendell JR, Shieh PB, McDonald CM, Sahenk Z, Lehman KJ, Lowes LP, Reash NF, Iammarino MA, Alfano LN, Sabo B, Woods JD, Skura CL, Mao HC, Staudt LA, Griffin DA, Lewis S, Wang S, Potter RA, Singh T, Rodino-Klapac LR.

• Dynamic enrichment of Bayesian small-sample, sequential, multiple assignment randomized trial design using natural history data: a case study from Duchenne muscular dystrophy [Biometrics December 2023]

  Authors: Wang S, Kidwell K, Roychoudhury S

• Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy [Journal of Neuromuscular Diseases May 2023]

  Authors: Fang Y, McDonald CM, Clemens PR, Gordish HD, Illei K, Hoffman EP; CINRG DNHS and Vamorolone 002/003/LTE Investigators; Dang UJ.

• Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study [Journal Neuromuscular Diseases May 2023]

  Authors: Clemens PR, Rao VK, Connolly AM, Harper AD, Mah, JK, McDonald CM, Smith EC, Zaidman CM, Nakagawa T, Hoffman EP and the CINRG DNHS Investigators

• Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis [Journal of Neurology April 2023]

  Authors: Mercuri E, Osorio AN, Muntoni F, Buccella F, Desguerre I, Kirschner J, Tulinius M, de Resende MBD, Morgenroth LP, Gordish-Dressman H, Johnson S, Kristensen A, Werner C, Trifillis P, Henricson EK, McDonald CM; STRIDE and CINRG DNHS investigators.

• Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy [

  Authors: Kaufman BD, Garcia A, He Z, Tesi-Rocha C, Buu M, Rosenthal D, Gordish-Dressman H, Almond CS, Duong T; CINRG DUCHENNE NATURAL HISTORY STUDY Investigators.

• Disease progression modeling of the North Star Ambulatory Assessment for Duchenne Muscular Dystrophy [CPT: Pharmacometrics & Systems Pharmacology January 2023]

  Authors: Hibma JE, Jayachandran P, Neelakantan S, Harnisch LO.

• Genetic Modifiers of Upper Limb Function in Duchenne Muscular Dystrophy [J Neurol Sep 2022]

  Authors: Sabbatini D, Fusto A, Vianello S, Villa M, Janik J, D'Angelo G, Diella E, Magri F, Comi GP, Panicucci C, Bruno C, D'Amico A, Bertini E, Astrea G, Battini R, Politano L, Masson R, Baranello G, Previtali SC, Messina S, Vita G, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Hoffman EP, Morgenroth L, Gordish-Dressman H, Duong T, McDonald CM, Bello L, Pegoraro E.

• Influence of β1 Adrenergic Receptor Genotype on Longitudinal Measures of Left Ventricular Ejection Fraction and Responsiveness to Blocker Therapy in Patients with Duchenne Muscular Dystrophy [Clinical Medicine Insights: Cardiology August 2022]

  Authors: Kelley EF, Cross TJ, McDonald CM, Investigators C, Hoffman EP, Spurney CF, Bello L.

• Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy [JAMA Aug 2022]

  Authors: Guglieri M, Clemens PR, Perlman SJ, Smitih EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans N, Haberlova J, Straub V, Mengle-Gaw LJ, Schwartz BD, Harper AD, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster R, McMillan HJ, Kuntz NL, Rao VK, Baranello G, Spinty S, Childs A, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez-Padilla JJ, Nascimento-Osorio A, Niks EH, DeGroot IJM, Katsalouli M, James MK, van den Anker J, Damsker JM, Ahmet A, Ward LM, Jaros M, Shale P, Dang UJ, Hoffman EP

• Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial [PLoS One August 2022]

  Authors: Muntoni F, Guglieri M, Mah JK, Wagner KR, Brandsema JF, Butterfield RJ, McDonald CM, Mayhew AG, Palmer JP, Marraffino S, Charnas L, Mercuri E.

• Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records [Advance Therapy June 2022]

  Authors: Iff J, Zhong Y, Gupta D, Paul X, Tuttle E, Henricson E, Schrader R; CINRG DNHS Investigators

• Delays in pulmonary decline in eteplirsen-treated patients with Duchenne muscular dystrophy [Muscle & Nerve June 2022]

  Authors: Iff J, Gerrits C, Zhong Y, Tuttle E, Birk E, Zheng Y, Paul X, Henricson E, McDonald CM, CINRG-DNHS Investigators

• Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy [Journal of Neuromuscular Diseases May 2022]

  Authors: Clemens PR, Rao VK, Connolly AM, Harper AD, Mah JK, McDonald CM, Smith EC, Zaidman CM, Nakagawa T; CINRG DNHS Investigators, Hoffman EP

• A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment [Journal of Neuromuscular Diseases January 2022]

  Authors: Mitelman O, Abdel-Hamid HZ, Byrne BJ, Connolly AM, Heydemann P, Proud C, Shieh PB, Wagner KR, Dugar A, Santra S, Signorovitch J, Goemans N; investigators from the LNMRC Natural History study; McDonald CM; investigators from the CINRG Duchenne National History Study; Mercuri E; investigators from The DMD Italian Group; Mendell JR.

• Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial [JAMA Jan 2022]

  Authors: Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators

• Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids [Journal of Neuromuscular Diseases Jan 2022]

  Authors: Duong T, Canbek J, Fernandez-Fernandez A, Henricson E, Birkmeier M, Siener C, Tesi Rocha C, McDonald C, Gordish-Dressman H; CINRG Investigators

• Development of a model-based clinical trial simulation platform to optimize the design of clinical trials for Duchenne muscular dystrophy [CPT: Pharmacometrics & Systems Pharmacology December 2021]

  Authors: Lingineni K, Aggarwal V, Morales JF, Conrado DJ, Corey D, Vong C, Burton J, Larkindale J, Romero K, Schmidt S, Kim S; Cooperative International Neuromuscular Research Group investigators and Duchenne Regulatory Science Consortium members.

• Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial [Journal of Neuromuscular Disorders November 2021]

  Authors: McDonald CM, Shieh PB, Abdel-Hamid HZ, Connolly AM, Ciafaloni E, Wagner KR, Goemans N, Mercuri E, Khan N, Koenig E, Malhotra J, Zhang W, Han B, Mendell JR; the Italian DMD Telethon Registry Study Group, Leuven NMRC Registry Investigators, CINRG Duchenne Natural History Investigators, and PROMOVI Trial Clinical Investigators.

• Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients [JCER Nov 2021]

  Authors: McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C, Li J, Able R, Trifillis P, Tulinus M, Ryan M, Jones K, Goemans N, Campbell C, Mah JK, Selby K, Chabrol B, Pereo Y, Voit T, Gidaro T, Schara U, Kirschner JB, Nevo Y, Comi GP, Bertini E, Mercuri E, Colomer J, Nascimento A, Vilchez JJ, Sejersen T, Muntoni F, Bushby K, Guglieri M

• The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD [Journal of Neuromuscular Diseases Nov 2021]

  Authors: Duong T, Canbek J, Birkmeier M, Nelson L, Siener C, Fernandez-Fernandez A, Henricson E, McDonald CM, Gordish-Dressman H; CINRG-DNHS Investigators

• Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy [Value Health October 2021]

  Authors: Landfeldt E, Iff J, Henricson E; Cooperative International Neuromuscular Research Group Investigators.

• Validation of Chemokine Biomarkers in Duchenne Muscular Dystrophy [Life August 2021]

  Authors: Ogundele M, Zhang JS, Goswami MV, Barbieri ML, Dang UJ, Novak JS, Hoffman EP, Nagaraju K, Cinrg-Dnhs Investigators, Hathout Y.

• Longitudinal motor function in proximal versus distal DMD pathogenic variants [Muscle & Nerve Jul 2021]

  Authors: Thangarajh M, Bello L, Gordish-Dressman H, Hathout Y, CINRG-DNHS Investigators

• Suitability of external controls for drug evaluation in Duchenne muscular dystrophy [Neurology Sept 2020]

  Authors: Goemans N, Signorovitch J, Sajeev G, Yao Z, Gordish-Dressman H, McDonald CM, Vandenborne K, Miller D, Ward SJ, Mercuri E, investigators from CINRG DNHS, PRO-DMD-01 Study, ImagingDMD, and the DMD Italian Group

• Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study [PLoS Med Sept 2020]

  Authors: Smith EC, Conklin LS, Hoffman EP, Clemens PR, Mah JK, Finkel RS, Guglieri M, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, CINRG VBP15 and DNHS Investigators

• The CINRG Becker Natural History Study: Baseline Characteristics [Muscle Nerve Sept 2020]

  Authors: Clemens PR, Niizawa G, Feng J, Florence J, Smith-D'Alessandro A, Morgenroth LP, Gorni K, Guglieri M, Connolly A, Wicklund M, Bertorini T, Mah JK, Thangarajh M, Smith E, Kuntz N, McDonald CM, Henricson EK, Upadhyayula S, Byrne B, Manousakis G, Harper A, Bravver E, Iannaccone S, Spurney C, Cnaan A, Gordish-Dressman H, CINRG BNHS Investigators

• Comparison of Serum Pharmacodynamic Biomarkers in Prednisone-Versus Deflazacort-Treated Duchenne Muscular Dystrophy Boys [JPM Aug 2020]

  Authors: Tawalbeh S, Samsel A, Gordish-Dressman H, Hathout Y, CINRG-DNHS Investigators, Dang UJ

• Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial [JAMA Neurol Aug 2020]

  Authors: Clemens PR, Rao VK, Connolly AM, Harper AD, Mah JK, Smith EC, McDonald CM, Zaidman CM, Morgenroth LP, Osaki H, Satou Y, Yamashita T, Hoffman EP, CINRG DNHS Investigators

• Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy [Journal Neuromuscular Disorders June 2020]

  Authors: Wagner KR, Abdel-Hamid HZ, Mah JK, Campbell C, Guglieri M, Muntoni F, Takeshima Y, McDonald CM, Kostera-Pruszczyk A, Karachunski P, Butterfield RJ, Mercuri E, Fiorillo C, Bertini ES, Tian C, Statland J, Sadosky AB, Purohit VS, Sherlock SP, Palmer JP, Binks M, Charnas L, Marraffino S, Wong BL.

• Genetic Modifiers of Respiratory Function in Duchenne Muscular Dystrophy [Ann Clin Transl Neurol May 2020]

  Authors: Bello L, D’ Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D’ Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman, EP, Morgenroth L, Gordish-Dressman H, McDonald CM, CINRG DNHS Investigators, Pegoraro E

• Safety and Effectiveness of Ataluren: Comparison of Results From the STRIDE Registry and CINRG DMD Natural History Study [J Comp Eff Res Apr 2020]

  Authors: Mercuri E, Muntoni F, Osorio AN, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I, STRIDE, CINRG Duchenne Natural History Investigators

• Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy [Neuromuscular Disorders Jan 2020]

  Authors: Servais L, Straathof CSM, Schara U, Klein A, Leinonen M, Hasham S, Meier T, De Waele L, Gordish-Dressman H, McDonald CM, Mayer OH, Voit T, Mercuri E, Buyse GM, for the SYROS and CINRG DNHS Investigators

• TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy [European Journal of Human Genetics Jan 2020]

  Authors: Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP, CINRG Investigators, Koeks Z, Suchiman HE, Cirak S, Scoto M, Reza M, ‘tHoen PAC, Niks EH, Tuffery-Giraud S, Lochmṻller H, Ferlini A, Muntoni F, Aartsma-Rus A

• Influence of β2 adrenergic receptor genotype on risk of nocturnal ventilation in patients with Duchenne muscular dystrophy [Respiratory Research Oct 2019]

  Authors: Kelley EF, Cross TJ, Snyder EM, McDonald CM, CINRG Investigators, Hoffman EP, Bello L

• Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function [Neurology Sep 2019]

  Authors: Hoffman EP, Schwartz BD, Mengle-Gaw LJ, Smith EC, Castro D, Mah JK, McDonald CM, Kuntz NL, Finkel RS, Guglieri M, Bushby K, Tulinius M, Nevo Y, Ryan MM, Webster R, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Siener C, Jaros M, Shale P, McCall JM, Nagaraju K, van den Anker J, Conklin LS, Cnaan A, Gordish-Dressman H, Damsker JM, Clemens PR, the Cooperative International Neuromuscular Research Group

• Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy [Scientific Reports Aug 2019]

  Authors: Hathout Y, Liang C, Ogundele M, Xu G, Tawalbeh SM, Dang UJ, Hoffman EP, Gordish-Dressman H, Conklin LS, van den Anker JN, Clemens PR, Mah JK, Henricson E, McDonald C

• Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy [Journal of Pharmacokinetics and Pharmacodynamics May 2019]

  Authors: Conrado DJ, Larkindale J, Berg A, Hill M, Burton J, Abrams KR, Abresch RT, Bronson A, Chapman D, Crowther M, Duong T, Gordish-Dressman H, Harnisch L, Henricson E, Kim S, McDonald CM, Schmidt S, Vong C, Wang X, Wong BL, Yong F, Romero K; Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC)

• Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy [Journal of Neuromuscular Diseases May 2019]

  Authors: Khan N, Eliopoulos H, Han L, Kinane TB, Lowes LP, Mendell JR, Gordish-Dressman H, Henricson EK, McDonald CM, on behalf of the Eteplirsen Investigators and the CINRG DNHS Investigators

• Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy [Journal of Neuromuscular Diseases May 2019]

  Authors: Khan N, Eliopoulos H, Han L, Kinane BT, Lowes LP, Mendell JR Gordish-Dressman H, Henricson EK, McDonaldon behalf of the Eteplirsen Investigators and the CINRG DNHS Investigators

• Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids [Neuromuscular Disorders Nov 2018]

  Authors: McDonald CM, Gordish-Dressman H, Henricson EK, Duong T, Joyce NC, Jhawar S, Leinonen M, Hsu, F, Connolly AM, Cnaan A, Abresch RT, and the CINRG Investigators

• Timed function tests have withstood the test of time as clinically meaningful and responsive endpoints in Duchenne muscular dystrophy [Muscle Nerve Nov 2018]

  Authors: McDonald CM

• Neurodevelopmental Needs in Young Boys with Duchenne Muscular Dystrophy (DMD): Observations from the Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DNHS) [PLoS Curr Oct 2018]

  Authors: Thangarajh M, Spurney CF, Gordish-Dressman H, Clemens PR, Hoffman EP, McDonald CM, Henricson EK, and the CINRG Investigators

• Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug [Pharmacological Research Oct 2018]

  Authors: Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward, LM, Ahmet, A, Cornish MR, Clemens PR

• A Multinational Study on Motor Function in Early-Onset FSHD [Neurology Apr 2018]

  Authors: Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, de Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen Y-W, and CINRG Investigators

• Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study [The Lancet Feb 2018]

  Authors: McDonald CM, Henricson E, Abresch RT, Duong T, Joyce NC, Hu F, Clemens PR, Hoffman EP, Cnaan A, Gordish-Dressman H and the CINRG Investigators

• Interleukin 1 Receptor-Like 1 Protein (ST2) is a Potential Biomarker for Cardiomyopathy in Duchenne Muscular Dystrophy [Pediatr Cardiol Dec 2017]

  Authors: Anderson J, Seol H, Gordish-Dressman H, Hathout Y, Spurney CF and the CINRG Investigators

• Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary [AJRCCM Jun 2017]

  Authors: Finder J, Mayer OH, Sheenan D, Sawnani H, Abresch RT, Benditt J, Birnkrant D, Duong T, Henricson E, Kinnett K, McDonald CM, Connolly AM

• Advances in Pulmonary Care in Duchenne Muscular Dystrophy [Advances in Pulmonary Care in Duchenne Muscular Dystrophy Apr 2017]

  Authors: Mayer OH, Henricson E, McDonald CM, Buyse GM, the CINRG Investigators and the DELOS Study Group

• Duchenne Regulatory Science Consortium Meeting on Disease Progression Modeling for Duchenne Muscular Dystrophy [ PLoS Curr Jan 2017]

  Authors: Larkindale J, Abresch RT, Aviles E, Bronson A, Chin J, Furlong P, Gordish-Dressman H, Habeeb-Louks E, Henricson E, Kroger H, Lynn C, Lynn S, Martin D, Nuckolls G, Rooney W, Romero K, Sweeney L, Vandenborne K, Walter G, Wolff J, Wong B, McDonald CM and the members of the Duchenne Regulatory Science Consortium, Imaging-DMD Consortium and the CINRG Investigators

• Evidence for ACTN3 as a Genetic Modifier of Duchenne Muscular Dystrophy [Nature Communications Jan 2017]

  Authors: Hogarth MW, Houweling PJ, Thomas KC, Gordish-Dressman H, Bello L, the Cooperative International Neuromuscular Research Group (CINRG), Pegoraro E, Hoffman EP, Head SI, North KN

• Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy [AJHG Nov 2016]

  Authors: Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project, Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group

• Serum Pharmacodynamic Biomarkers for Chronic Corticosteroid Treatment of Children [Sci Rep Aug 2016]

  Authors: Hathout Y, Conklin L, Seol H, Gordish-Dressman H, Brown K, Morgenroth L, Nagaraju K, Heier CR, Damsker JM, van den Anker J, Henricson E, Clemens PR, Mah JK, McDonald CM, Hoffman EP

• DMD Genotypes and Loss of Ambulation in the CINRG Duchenne Natural History Study [Neurology Jul 2016]

  Authors: Bello L, Morgenroth LP, Gordish-Dressman H, Hoffman EP, McDonald C, Cirak S on behalf of the CINRG Investigators

• Engaging Participants in Rare Disease Research: A Qualitative Study of Duchenne Muscular Dystropy [Clinical Therapeutics Jun 2016]

  Authors: Bendixen RM, Morgenroth LP, Clinard KL

• Discovery of Metabolic Biomarkers for Duchenne Muscular Dystrophy Within a Natural History Study [PLOS One Apr 2016]

  Authors: Boca SM, Nishida M, Harris M, Rao S, Cheema AK, Gill K, Seol H, Morgenroth LP, Henricson E, McDonald C, Mah JK, Clemens PR, Hoffman EP, Hathout Y, Madhavan S.

• Prednisone/Prednisolone and Deflazacort Regimens in the CINRG Duchenne Natural History Study [Neurology Sep 2015]

  Authors: Bello L, Gordish-Dressman H, Morgenroth LP, Henricson E, Duong T, Hoffman EP, Cnaan A, McDonald C.

• Feasibility and Reproducibility of Echocardiographic Measures in Children with Muscular Dystrophies [JASE Aug 2015]

  Authors: Spurney CF, McCaffrey FM, Cnaan A, Morgenroth LP, Ghelani SJ, Gordish-Dressman H, Arrieta A, Connolly AM, Lotze T, McDonald C, Leshner R, Clemens PR

• Large-Scale Serum Protein Biomarker Discovery in Duchenne Muscular Dystrophy [PNAS May 2015]

  Authors: Hathout Y, Brody E, Clemens P, Cripe LH, DeLisle RK, Furlong P, Gordish-Dressman H, Morgenroth LP, Henricson E, Hoffman EP, Kobayashi YM, Lorts A, Mah JK, McDonald C, Mehler B, Nelson S, Nikrad M, Singer B, Steele F, Sterling D, Sweeney HL, Williams S, Gold L

• Genetic Modifiers of Ambulation in the CINRG Duchenne Natural History Study [Annals of Neurology Jan 2015]

  Authors: Bello L, Kesari A, Gordish-Dressman H, Cnaan A, Morgenroth LP, Punetha J, Duong T, Henricson EK, Pegoraro E, McDonald CM, Hoffman EP

• Discovery of Serum Protein Biomarkers in the MDX Mouse Model and Cross-Species Comparison to Duchenne Muscular Dystrophy Patients [Human Molecular Genetics Dec 2014]

  Authors: Hathout Y, Marathi RL, Rayavarapu S, Zhang A, Brown KJ, Seol H, Gordish-Dressman H, Cirak S, Bello L, Nagaraju K, Partridge T, Hoffman EP, Takeda S, Mah JK, Henricson E, McDonald C

• CINRG Duchenne Natural History Study Demonstrates Insufficient Diagnosis and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy [Muscle & Nerve Jan 2014]

  Authors: Spurney C, Shimizu R, Morgenroth LP, Kolski H, Gordish-Dressman H, Clemens PR, and the CINRG Investigators

• The CINRG Duchenne Natural History Study - A Longitudinal Natural History Study in the Era of Glucocorticoid Therapy: Design of the Protocol and Methods [Muscle & Nerve Feb 2013]

  Authors: McDonald C, Henricson. EK., Abresch R, Han J, Escolar D, Florence J, Duong T, Arrieta A, Clemens P, Hoffman E, Cnaan A, and CINRG Investigators

• The CINRG Duchenne Natural History Study: Glucocorticoid Treatment Preserves Clinically-Meaningful Functional Milestones and Reduces Rate of Disease Progression as Measured by Manual Muscle Testing and Other Commonly Used Clinical Trial Outcome Measures [Muscle & Nerve Feb 2013]

  Authors: Henricson EK, Abresch. R., Cnaan A, Hu F, Duong T, Arrieta A, Han J, Escolar DM, Florence JM, Clemens PR, Hoffman EP, McDonald CM and CINRG Investigators

• Pentoxifylline as a Rescue Treatment for Duchenne Muscular Dystrophy: A Randomized, Double Blind Clinical Trial [Neurology Mar 2012]

  Authors: Escolar DM, Zimmerman AL, Bertorini T

• Randomized, Blinded Trial of Weekend Versus Daily Prednisone in Duchenne Muscular Dystrophy [Neurology Aug 2011]

  Authors: Escolar DM, Hache LP, Clemens PR, Cnaan A, McDonald CM, Viswanathan V, Kornberg AJ, Bertorini TE, Nevo Y, Lotze T, Pestronk A, Ryan MM, Monasterio E, Day JW, Zimmerman A, Arrieta A, Henricson E, Mayhew J, Florence J, Hu F, Connolly AM

• Liquid Formulation of Pentoxifylline is a Poorly Tolerated Treatment for Duchenne Dystrophy [Muscle & Nerve Apr 2011]

  Authors: Zimmerman A, Clemens PR, Tesi-Rocha C, Connolly A, Iannaccone ST, Kuntz N, Arrieta A, Hache L, Henricson E, Hu F, Mayhew J, Escolar DM

• CINRG Pilot Trial of Coenzyme Q10 in Steroid-Treated Duchenne Muscular Dystrophy [Muscle & Nerve Feb 2011]

  Authors: Spurney CF, Rocha CT, Henricson E, Florence J, Mayhew J, Gorni K, Pasquali L, Pestronk A, Martin GR, Hu F, Nie L, Connolly AM, Escolar DM; Cooperative International Neuromuscular Research Group Investigators

• SPP1 Genotype is a Determinant of Disease Severity in Duchenne Muscular Dystrophy [Neurology Jan 2011]

  Authors: Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati MD, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney JM, McDonald CM; Cooperative International Neuromuscular Research Group

• CINRG Pilot Trial of Oxatomide in Steroid-Naïve Duchenne Muscular Dystrophy [European Journal of Paediatric Neurology Nov 2007]

  Authors: Buyse GM, Goemans N, Henricson EK, Jara A, van den Hauwe M, Leshner R, Florence JM, Mayhew JE, Escolar DM

• Reliable Surrogate Outcome Measures in Multicenter Clinical Trials of Duchenne Muscular Dystrophy [Muscle & Nerve 2006]

  Authors: Mayhew JE, Florence JM, Mayhew TP, Henricson EK, Leshner RT, McCarter RJ, Escolar DM

• CINRG Randomized Controlled Trial of Creatine and Glutamine in Duchenne Muscular Dystrophy [Annals of Neurology Jun 2005]

  Authors: Escolar DM, Buyse G, Henricson E, Leshner R, Florence J, Mayhew J, Tesi-Rocha C, Gorni K, Pasquali L, Patel KM, McCarter R, Huang J, Mayhew T, Bertorini T, Carlo J, Connolly AM, Clemens PR, Goemans N, Iannaccone ST, Igarashi M, Nevo Y, Pestronk A, Subramony SH, Vedanarayanan VV, Wessel H, CINRG Group

• Collaborative Translational Research Leading to Multicenter Clinical Trials in Duchenne Muscular Dystrophy: the Cooperative International Neuromuscular Research Group (CINRG) [Neuromuscular Disorders Oct 2002]

  Authors: Escolar DM, Henricson EK, Pasquali L, Gorni K, Hoffman EP

• Clinical Evaluator Reliability for Quantitative and Manual Muscle Testing Measures of Strength in Children [Muscle & Nerve May 2001]

  Authors: Escolar DM, Henricson EK, Mayhew J, Florence J, Leshner R, Patel KM, Clemens PR