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DIR Researcher Profile: Dr. Katy Meilleur

Katy Meilleur, PhD, PPCNP-BC

Katy MeilleurTenure Track Investigator
Neuromuscular Symptoms Unit
Tissue Injury Branch
Division of Intramural Research


Research Topics

Neuromuscular disorders affect the peripheral nervous system, neuromuscular junction, and muscle. The main impact on individuals is a decreased ability to perform voluntary movements. The burden on these individuals is significant—the most severe forms of neuromuscular disease cause almost complete paralysis and ultimately death.

Although no one knows for sure, according to the Muscular Dystrophy Association, approximately 1 million people in the United States are affected by some form of neuromuscular disease. The prevalence of Duchenne/Becker muscular dystrophy (DBMD) alone is 1.3 to 1.8 per 10,000 males aged 5 to 24 as of 2007. Other neuromuscular diseases include limb-girdle syndromes; myotonia; congenital myopathies; congenital muscular dystrophies; pre and post synaptic neuromuscular junction disorders; DNA repeat syndromes; and motor, motor-sensory, and sensory conditions.

Through her research, Dr. Katy Meilleur is investigating effective ways to measure and treat symptoms of various forms of congenital muscle disease, many of which have few treatment options and are associated with severe complications and early death. In particular, the Meilleur lab focuses on the most common form of congenital myopathy, ryanodine receptor 1-related myopathy (RYR1-RM). RYR1-RM typically presents at birth with symptoms of muscle weakness, hypotonia, delayed motor milestones, scoliosis, contractures, and/or fatigue. In more severe cases, affected individuals are wheelchair dependent and have ophthalmoplegia, respiratory insufficiency, and severe hypotonia. These symptoms are due to defects in the RyR1 protein, which functions as the major calcium channel in skeletal muscle and is critical to excitation-contraction coupling. Mutations in the gene RYR1 result in decreased expression of RyR1 protein and/or the dysregulation of calcium release from the sarcoplasmic reticulum through this large ion channel into the sarcoplasm. To date, no FDA approved treatments exist for RYR1-RM. Currently, our team is developing and testing clinical outcome measures for RYR1-RM and identifying the most reliable, valid, and sensitive measures for this population. We recently completed the first formal natural history study and first double blind, randomized control trial (RCT) in this disease. Our ultimate goals are to further elucidate the pathomechanism of RYR1-RM and to identify treatments that will decrease injury to muscle tissue and relieve key symptoms including muscle weakness, hypotonia, and fatigue.

Currently, Dr. Meilleur is developing and testing clinical outcome measures in congenital myopathies and muscular dystrophies for feasibility, validity, and reliability in preparation for use in clinical trials. The validated measures are being implemented in interventional trials in an effort to find treatments that will decrease injury to muscle tissue and ultimately reduce or relieve key symptoms of muscle weakness, decreased muscle tone, contractures, fatigue, difficulty breathing, and curvature of the spine, also known as scoliosis.  Her work also may help identify biomarkers and genetic modifiers of neuromuscular diseases that may lead to even more effective treatments.

Research Protocols

14-NR-0018 The Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy


After completing her BS degree in biology at the University of Maryland, Dr. Meilleur worked in a genetics lab at the University of Pennsylvania. She then entered the BSN/MSN program at the University of Pennsylvania as a second-degree nursing student. While pursuing her MSN, she worked as a neonatal intensive care nurse at the Hospital of the University of Pennsylvania (HUP).

As an acute/chronic pediatric nurse practitioner (PNP), Dr. Meilleur worked in HUP’s newborn nursery while earning her PhD at The Johns Hopkins University through the Graduate Partnership Program of the NINR. Her interests in international health and genetics led her to do her dissertation with a neurologist at the National Institute of Neurological Disorders and Stroke (NINDS) who had a partnership in Bamako, Mali, West Africa. There she identified a novel genetic locus for hereditary spastic paraplegia. She also developed a scale to test knowledge and attitudes of Malians before and after receiving genetic testing for the first time.

After a postdoctoral fellowship at the National Human Genome Research Institute, Dr. Meilleur became a staff scientist in the NINDS in the lab of Dr. Carsten Bonnemann and continued to conduct gene discovery studies and develop instruments to measure clinical outcomes in various congenital muscle diseases. She then became an Assistant Clinical Investigator, and more recently, a Tenure Track Investigator in NINR’s Division of Intramural Research, where she develops and studies clinical outcome measures in pediatric neuromuscular disease with the ultimate goal of performing clinical trials to establish treatments for these conditions.

Selected Publications

  1. Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bonnemann CG, Dowling JJ, Meilleur KG. Novel variants in individuals with RYR1-Related Congenital Myopathies: Genetic Laboratory, and Clinical Findings. Front Neurol 2018 March 5; 9:118. Doi: 10.3389/fneur.2018.00118. eCollection 2018.
  2. Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Doung T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ. Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two-year analysis. Muscle Nerve. 2017 Feb 22. [Epub ahead of print] PMID: 28224647
  3. Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG, Meilleur KG. Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy. Neuromusc Disord. 2016 Dec 5. pii: S0960-8966(16)30752-0. PMID: 28087121
  4. Witherspoon JW, Meilleur KG. Review of RyR1 pathway and associated pathomechanisms. Acta Neuropathol Commun. 2016 Nov 17;4(1):121. PMID: 27855725
  5. Meilleur KG, Linton MM, Fontana J, Rutkowski A, Elliott J, Barton M, McGraw P, Kokkinis A, Donkervoort S, Leach M, Jain M, Dastgir J, Collins J, Szczesniak R, Yang K, Sawnani H, Bönnemann CG. Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy. Pediatr Pulmonol. 2017 Jan 13. [Epub ahead of print] PMID: 28085238
  6. Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurol. 2015 Jun;72(6):689-98. PMID: 25938801
  7. Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG. Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. Neuromuscul Disord. 2015 Jan;25(1):43-54. PMID: 25307854
  8. Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG. English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases. Arch Phys Med Rehabil. 2014 Nov;95(11):2064-2070.e1. PMID: 24862765
  9. Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol. 2014 May;73(5):425-41. PMID: 24709677
  10. Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013 Oct;34(10):1357-60. PMID: 23857908
  11. Landouré G, Mochel F, Meilleur K, Ly M, Sangaré M, Bocoum N, Bagayoko K, Coulibaly T, Sarr AM, Bâ HO, Coulibaly S, Guinto CO, Touré M, Traoré M, Fischbeck KH. Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. J Neurol. 2013 Jan;260(1):324-6. PMID: 23142947
  12. Traoré M, Coulibaly T, Meilleur KG, La Pean A, Sangaré M, Landouré G, Mochel F, Karambé M, Guinto CO, Fischbeck KH. Clinical and genetic analysis of spinocerebellar ataxia in Mali. Eur J Neurol. 2011 Oct;18(10):1269-71. PMID: 21418439
  13. Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul;11(3):313-8. PMID: 20039086
  14. Meilleur KG, Coulibaly S, Traoré M, Landouré G, La Pean A, Sangaré M, Mochel F, Traoré S, Fischbeck KH, Han HR. Genetic testing and counseling for hereditary neurological diseases in Mali. J Community Genet. 2011 Mar;2(1):33-42. PMID: 22109722
  15. Meilleur KG, Littleton-Kearney MT. Interventions to improve patient education regarding multifactorial genetic conditions: a systematic review. Am J Med Genet A. 2009 Feb 15;149A(4):819-30. PMID: 19291763


For Dr. Meilleur’s full bibliography, please visit PubMed.

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