ElMallah Lab

Welcome

Our laboratory studies the control of breathing and pulmonary mechanics in neuromuscular disorders, including Pompe disease, Duchenne muscular dystrophy, spinocerebellar ataxia, and amyotrophic lateral sclerosis. We investigate the extent of respiratory pathophysiology and neuromodulation that contribute to respiratory dysfunction using humanized murine models. We also assess the effects of next-generation muscle- and CNS-tropic AAV gene therapies on both respiratory and systemic pathology.

Drawing of lung with DNA graphic

Mission Statement

Our overarching goal is to positively impact the lives of patients with neuromuscular diseases through scientific discovery. Our specific research focus is to elucidate mechanisms that contribute to respiratory insufficiency in neuromuscular disorders and to explore novel therapeutics to treat this pathology.

2 people working in a lab
Two people looking at a screen for research
Two people looking at results in a lab

Research

Our research focuses on novel therapies for respiratory pathology in neuromuscular disorders. We study the entire respiratory motor unit – muscle, nerve, and motor neurons. Our primary focus is on the use of AAV gene therapy to transduce muscle, nerve, and motor neurons and treat these conditions.

Pompe disease is a fatal neuromuscular disorder resulting from mutations in the gene for acid alpha-glucosidase (GAA) – an enzyme necessary to degrade lysosomal glycogen. Infants with Pompe disease suffer from respiratory insufficiency often leading to mechanical ventilation.

The only FDA-approved therapy is enzyme replacement therapy (ERT) but this therapy does not cure the muscle and CNS problems that these children encounter. Children with this disease have a weak diaphragm and upper airway dysfunction and often need a tracheostomy tube. Despite ERT, they often become dependent on a ventilator for breathing because the muscles are not fully treated with ERT. In addition, because ERT does not cross the blood brain barrier, the CNS pathology is not targeted by ERT.

No treatment currently exists for both the CNS and muscular pathology of Pompe Disease. This research will help us better understand the mechanisms of CNS pathology involved in Pompe disease and the role of gene therapy in treating the CNS and muscular component of upper airway problems.

Gene therapy strategy for Pompe disease

Our lab focuses on the correction of the respiratory pathophysiology of Pompe disease using a Pompe disease mouse model (the Gaa-/-mouse). Using efferent nerve recordings, we are studying the impact of compounds that enhance excitatory glutaminergic neural transmission in respiratory neurons. Using rodent respiratory physiology outcome measures, such as whole-body plethysmography, forced oscillometry, and efferent nerve outputs we can study the impact of gene therapy on breathing.

Dhindsa JS et al, Motor axonopathies in a mouse model of Duchenne muscular dystrophy. Sci Rep. 2020 Jun 2

Duchenne muscular dystrophy (DMD) is a devastating X-linked disease with no current cure. Boys with DMD have progressive respiratory weakness and many have neurological impairment. In our laboratory, we examine the impact of DMD on breathing and neurological pathology in a novel humanized mouse model of DMD that has the human genetic mutation.  We also use novel adeno-associated viral (AAV) gene therapy to treat the respiratory and neuropathology in DMD.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with no current cure. Patients with ALS commonly die 3-5 years after diagnosis from respiratory failure. However, if the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) and motor neurons are affected first, death may occur within 2-3 years. Bulbar involvement results in speaking and swallowing difficulties leading to recurrent aspiration, choking and aggravation of breathing problems. The most severely affected bulbar muscle is the tongue.

In addition to tongue involvement, all individuals afflicted with ALS ultimately succumb to inadequate breathing and respiratory failure secondary to respiratory muscle weakness (diaphragm and intercostal weakness). The diaphragm and intercostal muscles are essential for breathing. Initial symptoms and signs of respiratory involvement include nighttime carbon dioxide retention, inadequate oxygenation and ultimately decreased daytime ventilation and oxygenation. Clinically, patients present with decreased exercise tolerance, shortness of breath, early morning headaches, and excessive daytime sleepiness. The rate of decline in respiratory function is related to mortality. Non-invasive ventilation with bi-level intermittent positive air pressure (BiPAP) prolongs survival significantly. The next step in respiratory support is invasive mechanical ventilation which becomes necessary for survival – however, few patients agree to the use of invasive mechanical ventilation since it places a heavy burden on their families and can lead to prolonged immobility and limited communication.

Ataxin-7 (red) accumulating in nuclei (blue) near motor neurons (green) of the cervical spinal cord of an 8-week-old SCA7-266Q mouse

Spinocerebellar ataxia type 7 (SCA7) is a rare neurodegenerative disorder resulting from abnormal CAG repeats in the gene for ataxin-7. This mutation leads to pathological accumulation of the protein (shown in red) and results in progressive ataxia, retinal degeneration, and muscle weakness. No treatment currently exists for SCA7, and patients often succumb to respiratory failure and aspiration pneumonia. Currently, we are investigating the respiratory component of SCA7 in a mouse model of an aggressive infantile form SCA7-266Q. Long term, our goal is to harness AAV to treat the widespread dysfunction caused by this devastating disease.  

Scientific Engagement

ATS 2023 International Conference

ElMallah Lab Members in front of Research Poster
ElMallah Lab Members in front of Research Poster
ElMallah Lab Members in front of Research Event Sign

Duke Department of Pediatrics 2023 Research Retreat

ElMallah Lab Member in front of Research Poster
ElMallah Lab Member in front of Research Poster
ElMallah Lab Member in front of Research Poster
ElMallah Lab Members in front of Research Poster
ElMallah Lab Member in front of Research Poster
ElMallah Lab Member in front of Research Poster

Lab Members

Every member of our team is essential to our research mission.

We strive to maintain high standards of professionalism, scientific rigor, and reproducibility so that our scientific contributions are positive, accurate, and meaningful.

Principal Investigator

Headshot of ElMallah

Mai ElMallah, MD, MS
Associate Professor, Department of Pediatrics, Division of Pulmonary and Sleep Medicine

Education
• 2015 Parker B. Francis Fellowship
• 2013 MSc in Clinical Investigation, University of Florida, Gainesville, FL
• 2012 Pediatric Pulmonary Fellowship, University of Florida, Gainesville, FL
• 2005 Pediatric Residency Training, Baylor College of Medicine/TexasChildren’s Hospital, Houston, TX
• 2001 Medical Degree: Queen’s University of Belfast Medical School, Belfast, Northern Ireland, UK

Research Interests
Our laboratory focuses on the control of breathing and pulmonary mechanics in murine models of several genetic diseases. We examine the impact of gene therapy and neuromodulation on respiratory insufficiency that results from neuromuscular weakness. As a clinician scientist, my goal is to bring therapy from the bench to the bedside and enhance our research at the bench through observations at the bedside.

Researchers

Headshot of Biswas

Debolina Biswas, PhD
Senior Research Associate

Education
• Ph.D.: Biochemistry and Molecular Biology, Virginia Commonwealth University, USA
• Postgraduate: Biotechnology, School of Biomedical Science, Ulster University, UK
• Postgraduate: Biotechnology, Shivaji University, India
• Bachelors: Microbiology, Shivaji University, India

Dr Biswas earned her bachelor’s degree in Microbiology and master’s degree in Biotechnology from India. Later she earned another postgraduate degree (Pg. D) at Ulster University, UK. In 2018, she received a Ph.D. in Biochemistry from Virginia Commonwealth University, Virginia, USA. During her doctoral training in the Kordula lab, she investigated neurodegeneration and neuroinflammation involved in animal models of multiple sclerosis. Dr. Biswas joined ElMallah lab as a Postdoctoral Associate and has been working on neuropathology that manifests in respiratory deficits. She is interested in investigating the glial cells and motor neurons at the respiratory control centers of the central nervous system that contribute to breathing insufficiency in neuromuscular disorders such as Spinocerebellar Ataxia type 7, Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy.  

Headshot of Basbous

Lynn Basbous, MD
Research Scholar

Education
• College and Medical School: American University of Beirut

Dr. Lynn Basbous grew up and completed her medical studies in Lebanon, where she developed a strong interest in pediatrics and research in rare diseases. After graduating, she moved to the United States to join Duke University as a postdoctoral research scholar. At Duke, her work focuses on characterizing the alveolar pathology in Pompe disease, a rare neuromuscular disorder, following induced lung injury. Through this research, she aims to better understand respiratory complications in rare pediatric conditions and contribute to the development of targeted therapeutic strategies. Her long-term goal is to become a pediatrician who integrates clinical care with translational research, bridging the gap between the laboratory and the bedside to improve outcomes for children with complex and underserved conditions. Outside of her professional work, Lynn enjoys baking and sharing her creations with others, finding it a creative and relaxing outlet that brings people together.

Headshot of Burrowes

Kayla Burrowes, PhD
Postdoctoral Associate

Education
• Doctoral Degree: Rehabilitation Science, University of Florida
• Bachelor’s Degree: Neuroscience, University of Rochester

Dr. Kayla Burrowes earned her PhD in rehabilitation science from the University of Florida under the mentorship of Dr. Gordon Mitchell. Her doctoral research focused on the mechanisms of Acute Intermittent Hypoxia (AIH)-induced respiratory motor plasticity, an emerging therapeutic strategy to improve respiratory and non-respiratory motor function in individuals with neurologic conditions. Her work provided important insight into how aging and inflammation influence the capacity for AIH-induced plasticity, helping to inform the development of tailored therapeutic approaches for diverse patient populations.

After graduating, she joined the ElMallah lab at Duke University, where she is applying her expertise in respiratory neuroplasticity to rare pediatric neuromuscular disorders such as Duchenne Muscular Dystrophy. Her long-term goal is to contribute to the development of targeted therapies that meaningfully improve patient outcomes.

Outside the lab, Dr. Burrowes enjoys traveling, reading psychological thrillers, and experimenting with creative new recipes.

Sara El Abiad, MD
Research Scholar

Rodrigo Catalan-Hurtado, PhD
Postdoctoral Associate

Mitch Yip
PhD Student

Research Technicians

Shannon Routh

All Shannon has ever really wanted to do is work with animals. She attended Alamance Community College and received her Animal Care and Management Diploma. She never really thought that her passion for animals would lead her to work in research. She joined the ElMallah Lab to gain more formal research experience. She is responsible for animal breeding and monitoring mice daily in our Vivarium and GSRBII animal facility. She provides all the required technical support to enable the lab to function effectively and assists lab members in their projects when needed. When she is not working in the lab, Shannon likes to trail ride a horse named Jackson. She is a social volunteer that helps kids get ready for Special Olympics.

Students

mainur khan headshot

My name is Mainur Khan, and I am a 4th year undergrad majoring in Biology and Global Health. At the El Mallah Lab, I am involved in tissue analysis in multiple Pompe Disease projects, as well as creating literature reviews about PD. Outside the lab, I like to DJ and be outside!

sloane mayman headshot

My name is Sloane Mayman and I am an undergraduate student majoring in Neuroscience with a minor in Computational Biology. As a student researcher at ElMallah Lab, I engage in tissue studies and data analysis. Outside of the lab, I am interested in aerospace medicine and I love to hike

Jane Lee Headshot

My name is Jane Lee, and I am a junior at Duke. I am majoring in biology and minoring in chemistry. I joined the ElMallah lab in the fall of my freshman year because of my interest in Duchenne Muscular Dystrophy, which I have been studying ever since. In my free time, I like to play sports, hike, and go to cafes.

yochebed woldeyohannes

My name is Yochebed Woldeyohannes, and I am a senior majoring in Biology and double minoring in Religion and Medical Sociology. In the ElMallah lab, I work on studying the neuropathology of ALS and DMD and better understanding the respiratory insufficiencies associated with the diseases. In my free time I love to try new cafes, cook/bake new things, and explore museums!

elle balle headshot

My name is Elle Balle and I am a second-year undergraduate majoring in biology with a concentration in neurobiology and a minor in cultural anthropology. I study Duchenne Muscular Dystrophy in the lab and work on various projects with mice that analyze their response to novel AAV therapy. In my free time I love to read, explore nature, and try new restaurants/cuisines!

dominick angelone headshot

Dominick Angelone is an undergraduate at Duke University, majoring in Biology with intended minors in Neuroscience and Religious Studies. He is interested in the intersections of biology, chemistry, and medicine, with a focus on applications to human health. He is beginning training in research on amyotrophic lateral sclerosis (ALS) using the TDP-43 mouse model, with a developing focus on respiratory deficiencies, neuronal inflammation, neuronal degeneration, and behavioral effects. Outside the lab, Dominick loves to read, go out to eat, go on excursions, and spend time with those he loves.

Alumni

  • Angela Roger, PhD: Dr. Roger’s research in the lab focused on the development of adeno-associated virus (AAV) gene therapy vectors for neuromuscular disorders. She previously studied the structures of AAV8 and AAV9. For the past 8 years, she has been funded by a number of sources to characterize autophagy pathology in the skeletal and smooth muscle of the Pompe disease mouse model – a critical component to address in the administration of any novel treatment. Her recent studies have expanded to understanding respiratory deficits in a number of mouse models with neuromuscular disorders – such as ALS and Duchenne Muscular Dystrophy – in order to best develop and evaluate novel AAV therapies. Dr. Roger has now transitioned to opening her own lab (Roger lab) in the Department of Pediatrics – Division of Pulmonary and Sleep Medicine. 
  • Lea El Haddad, MD  Growing up in the city of Beirut, Dr. El Haddad graduated from Université Saint- Joseph as a medical doctor in June 2021. Her intern years involved working in different fields of medicine, and over time, she has conducted many clinical sciences research projects, mainly in the molecular and Immuno-Oncology department. Having a strong interest in research and in exploring diverse cultures, she decided to start her international experience. In September 2021, she joined the ElMallah lab as a postdoctoral associate. Her research in the lab focused on characterizing the alveolar cell pathology in a Pompe disease mouse model, before, during, and after induced lung injury. Dr. El Haddad’s is now currently completing her residency at the University of Michigan in the Pediatric Physician Scientist program.
  • Doreen Mhandire, PhD
  • Maran Hernandez Rodriguez, MD During her residency in pediatrics, Dr Hernandez Rodriguez was very interested on every patient with respiratory symptoms and diseases. She found her interest in pulmonary during those years and was fortunate to join the pediatric pulmonology fellowship at Duke in July 2023 after finishing her residency. Since the beginning of her fellowship, Dr. Hernandez Rodriguez has been amazed and motivated by the research conducted in ElMallah lab and had the fortune to be invited to join the lab. Her research in the lab focuses on understanding the effect of AAV gene therapy on the respiratory pathology of Duchenne Muscular Dystrophy (DMD). Dr. Hermandez Rogriguez joined the department of Pediatric Pulmonology at Duke in August 2024 as a faculty member.
  • Amr El-Mahalawi, MD

Research Technician

  • Laura Strickland, MS
  • Logan Pucci
  • Anna Fusco

 Alumni Undergraduate Students

  • Rania Soufny
  • Meredith Huston
  • Sean Kehoe
  • Davina Le
  • Jennifer Smith
  • Navina Doss
  • Logan Pucci
  • Anna Fusco
  • Justin Dhindsa
  • Evelyn Scarrow 

Alumni Graduate Students 

  • Preston Anderson
  • Nicholas Han

Publications

 

2025

Roger AL, El Haddad L, Huston ML, et al. GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse. Respir Physiol Neurobiol. 2025;335:104433. doi:10.1016/j.resp.2025.104433

Hernández Rodríguez MY, Biswas DD, Slyne AD, et al. Respiratory pathology in the mdx/utrn -/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD). PLoS One. 2025;20(2):e0316295. Published 2025 Feb 7. doi:10.1371/journal.pone.0316295

2024

Biswas DD, Shi Y, El Haddad L, Sethi R, Huston M, Kehoe S, Scarrow ER, Strickland LM, Pucci LA, Dhindsa JS, Hunanyan A, La Spada AR, ElMallah MK. Respiratory neuropathology in spinocerebellar ataxia type 7. JCI Insight. 2024 Jul 18;9(18):e170444. doi: 10.1172/jci.insight.170444. PMID: 39053472; PMCID: PMC11457860.

Biswas, Debolina & Sethi, Ronit & Woldeyohannes, Yochebed & Scarrow, Evelyn & El Haddad, Léa & Lee, Jane & Elmallah, Mai. (2024). Respiratory pathology in the TDP-43 transgenic mouse model of amyotrophic lateral sclerosis. Frontiers in Physiology. 15. 10.3389/fphys.2024.1430875.

Roger AL, Biswas DD, Huston ML, Le D, Bailey AM, Pucci LA, Shi Y, Robinson-Hamm J, Gersbach CA, ElMallah MK. Respiratory characterization of a humanized Duchenne muscular dystrophy mouse model. Respir Physiol Neurobiol. 2024 Aug;326:104282. doi: 10.1016/j.resp.2024.104282. Epub 2024 May 21. PMID: 38782084.

2023

El Haddad L, Lai E, Murthy PKL, Biswas DD, Soufny R, Roger AL, Tata PR, ElMallah MK. GAA deficiency disrupts distal airway cells in Pompe disease. Am J Physiol Lung Cell Mol Physiol. 2023 Sep 1;325(3):L288-L298. doi: 10.1152/ajplung.00032.2023. Epub 2023 Jun 27. PMID: 37366541.

El Haddad L, Khan M, Soufny R, Mummy D, Driehuys B, Mansour W, Kishnani PS, ElMallah MK. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives. Ther Clin Risk Manag. 2023 Sep 1;19:713-729. doi: 10.2147/TCRM.S362871. PMID: 37680303; PMCID: PMC10480292.

Gromova A, Cha B, Robinson EM, Strickland LM, Nguyen N, ElMallah MK, Cortes CJ, La Spada AR. X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease. Acta Neuropathol Commun. 2023 Jun 2;11(1):90. doi: 10.1186/s40478-023-01582-1. PMID: 37269008; PMCID: PMC10239133.

2022

Roger AL, Sethi R, Huston ML, Scarrow E, Bao-Dai J, Lai E, Biswas DD, El Haddad L, Strickland LM, Kishnani PS, ElMallah MK. What's new and what's next for gene therapy in Pompe disease? Expert Opin Biol Ther. 2022 Sep;22(9):1117-1135. doi: 10.1080/14712598.2022.2067476. Epub 2022 Apr 27. PMID: 35428407; PMCID: PMC10084869.
Biswas DD, El Haddad L, Sethi R, Huston ML, Lai E, Abdelbarr MM, Mhandire DZ, ElMallah MK. Neuro-respiratory pathology in spinocerebellar ataxia. J Neurol Sci. 2022 Dec 15;443:120493. doi: 10.1016/j.jns.2022.120493. Epub 2022 Nov 13. PMID: 36410186; PMCID: PMC9808489.
Mhandire DZ, Burns DP, Roger AL, O'Halloran KD, ElMallah MK. Breathing in Duchenne muscular dystrophy: translation to therapy. J Physiol. 2022 Aug;600(15):3465-3482. doi: 10.1113/JP281671. Epub 2022 Jun 24. PMID: 35620971; PMCID: PMC9357048.
Gonzalez TJ, Simon KE, Blondel LO, Fanous MM, Roger AL, Maysonet MS, Devlin GW, Smith TJ, Oh DK, Havlik LP, Castellanos Rivera RM, Piedrahita JA, ElMallah MK, Gersbach CA, Asokan A. Cross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing. Nat Commun. 2022 Oct 10;13(1):5947. doi: 10.1038/s41467-022-33745-4. PMID: 36210364; PMCID: PMC9548504.

2021

Fusco AF, Pucci LA, Switonski PM, Biswas DD, Kahn AF, Dhindsa JS, Strickland LM, La Spada AR, ElMallah MK. Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7. Dis Model Mech. 2021.

Hunanyan AS, Kantor B, Puranam RS, Elliott C, McCall A, Dhindsa J, Pagadala P, Wallace K, Poe J, Gunduz T, Asokan A, Koeberl DD, ElMallah MK, Mikati MA. Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood. Hum Gene Ther. 2021 Feb 12. PMID: 33577387

Lu P, ElMallah MK, Liu Z, Wu C, Chen J, Lifshitz LM, ZhuGe R. Genetic deletion of the Tas2r143/Tas2r135/Tas2r126 cluster reveals that TAS2Rs may not mediate bitter tastant-induced bronchodilation. J Cell Physiol. 2021 Feb 8. PMID: 33559206

2020

ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS. Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. Pediatr Pulmonol. 2020 Mar;55(3):674-681. PMID: 31899940

Khan AA, Case LE, Herbert M, DeArmey S, Jones H, Crisp K, Zimmerman K, ElMallah MK, Young SP, Kishnani PS. Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genet Med. 2020 May;22(5):898-907. PMID: 31904026

Fusco AF, McCall AL, Dhindsa JS, Zheng L, Bailey A, Kahn AF, ElMallah MK. The Respiratory Phenotype of Pompe Disease Mouse Models. Int J Mol Sci. 2020 Mar 24;21(6). PMID: 32214050

Lind LA, Andel EM, McCall A, Dhindsa JS, Johnson KA, Stricklin OE, Mueller C, ElMallah MK, Lever TE, Nichols NL. Intralingual administration of AAVrh10-miR-SOD1 improves respiratory but not swallowing function in a SOD1 mouse model of ALS. Hum Gene Ther.2020 Aug;31(15-16):828-838. PMID: 32498636

Dhindsa JS, McCall AL, Strickland LM, Fusco AF, Kahn AF, ElMallah MK. Motor axonopathies in a mouse model of Duchenne muscular dystrophy. Sci Rep. 2020 Jun 2;10(1):8967. PMID: 32488044

Crayle J, Elmallah M, Sleasman J, Bedlack R. Total serum immunoglobulin A in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Jul 16:1-5. PMID: 32672072

McCall AL, Dhindsa JS, Pucci LA, Kahn AF, Fusco AF, Biswas DD, Strickland LM, Tseng HC, ElMallah MK. Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis. Respir Physiol Neurobiol. 2020 Nov;282:103525. PMID: 32805420

2019

Keeler AM, Zieger M, Todeasa S, Mccall A, Gifford J, Bircsak S, Choudhury SR, Byrne BJ, Sena-Esteves M, ElMallah MK. Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease. Hum Gene Ther. 2019 Jan;30(1):57-68. PMID: 29901418

McCall AL, ElMallah MK. Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. Int J Mol Sci. 2019 Feb 11;20(3). PMID: 30754627

Zieger M, Keeler AM, Flotte TR, ElMallah MK. AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2019 Apr 17. PMID: 30993714

Koupenova M, Mick E, Corkrey HA, Singh A, Tanriverdi SE, Vitseva O, Levy D, Keeler AM, Ezzaty Mirhashemi M, ElMallah MK, Gerstein M, Rozowsky J, Tanriverdi K, Freedman JE. Pollen-derived RNAs Are Found in the Human Circulation. 2019 Aug 24;19:916-926. PMID: 31518900

Fusco AF, McCall AL, Dhindsa JS, Pucci LA, Strickland LM, Kahn AF, ElMallah MK. The Respiratory Phenotype of Rodent Models of Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia. J Neuroinflamm Neurodegener Dis. 2019;3(1). PMID: 31893284

Han SO, Li S, McCall A, Arnson B, Everitt JI, Zhang H, Young SP, ElMallah MK, Koeberl DD. Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease. Mol Ther Methods Clin Dev. 2019 Dec 6;17:133-142. PMID: 31909086

Keeler AM, Zieger M, Semple C, Pucci L, Veinbachs A, Brown RH Jr, Mueller C, ElMallah MK. Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model. Mol Ther Methods Clin Dev. 2019 Dec 24;17:246-257. PMID: 31970202

2018

Borel F, Sun H, Zieger M, Cox A, Cardozo B, Li W, Oliveira G, Davis A, Gruntman A, Flotte TR, Brodsky M, Hoffman AM, ElMallah MK, Mueller C. Editing out five Serpina1 paralogs to create a mouse model of genetic emphysema. Proc Natl Acad Sci U S A. 2018 Feb 16. PMID: 29453277

McCall AL, Salemi J, Bhanap P, Strickland LM, ElMallah MK. The impact of Pompe disease on smooth muscle: a review. J Smooth Muscle Res. 2018;54(0):100-118. PMID: 30787211

2017

Stoica L, Keeler AM, Xiong L, Kalfopolous M, Desrochers K, Brown RH Jr., Sena-Esteves M, Flotte TR, ElMallah MK. Restrictive Lung Disease in the SOD1G93A ALS mouse model. Am J Respir Cell Mol Biol. 2017 Mar;56(3):405-408 PMID: 26891182

Keeler AM, Liu D, Zieger M, Xiong L, Salemi J, Bellve K, Byrne BJ, Fuller DD, Zhuge R, ElMallah MK. Airway smooth muscle dysfunction in Pompe (Gaa-/-) mice. Am J Physiol Lung Cell Mol Physiol. 2017 Jun 1;312(6):L873-L881. PMID: 28336814

Keeler AM, ElMallah MK, Flotte TR. Gene Therapy 2017: Progress and Future Directions. Clin Transl Sci. 2017 Jul;10(4):242-248. PMID: 28383804

Kalfopoulos M, Wetmore K, ElMallah MK. Pathophysiology of Alpha-1 Antitrypsin Lung Disease. Methods Mol Biol. 2017;1639:9-19. PMID: 28752442

ElMallah MK, Bailey E, Trivedi M, Kremer T, Rhein LM. Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications. Pediatr Ann. 2017 Sep 1;46(9). PMID: 28892549

Trivedi M, ElMallah MK, Bailey E, Kremer T, Rhein LM. Pediatric Obstructive Sleep Apnea and Asthma: Clinical Implications. Pediatr Ann. 2017 Sep 1;46(9) PMID: 28892548

2016

  • Turner SMF, ElMallah MK, Hoyt A, Greer JJ, Fuller DD. Ampakine CX717 potentiates intermittent hypoxia-induced hypoglossal long term facilitation. J Neurophysiol  2016 Jun 15:jn.00210.2016. doi: 10.1152/jn.00210.2016. [Epub ahead of print] PMID:  27306673 PubMed

  • Stoica L, Todeasa SH, Cabrera GT, Salameh JS, ElMallah MK, Mueller C, Brown RH, Sena-Esteves M. Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model. Ann Neurol. 2016 Apr; 79(4):687-700. PubMed

  • Turner SM, Hoyt AK, ElMallah MK, Falk DJ, Byrne BJ, Fuller DD. Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice. Respir Physiol Neurobiol. 2016 Jun 15; 227:48-55. PubMed

  • Loring HS, ElMallah MK, Flotte TR. Development of rAAV2-CFTR: History of the First rAAV Vector Product to be Used in Humans. Hum Gene Ther Methods. 2016 Apr; 27(2):49-58. PubMed

  • Borel F, Gernoux G, Cardozo B, Metterville JP, Toro Cabreja GC, Song L, Su Q, Gao GP, ElMallah MK, Brown RH, Mueller C. Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates. Hum Gene Ther. 2016 Jan; 27(1):19-31. PubMed

  • ElMallah MK, Stanley DA, Lee KZ, Turner SM, Streeter KA, Baekey DM, Fuller DD. Power spectral analysis of hypoglossal nerve activity during intermittent hypoxia-induced long-term facilitation in mice. J Neurophysiol. 2016 Mar 1; 115(3):1372-80. PubMed

2015

  • ElMallah MK, Pagliardini S, Turner SM, Cerreta AJ, Falk DJ, Byrne BJ, Greer JJ, Fuller DD. Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines. Am J Respir Cell Mol Biol. 2015 Sep; 53(3):326-35. PubMed

  • Bacewicz A, Wang W, Ashouri J, ElMallah MK. Children with Chronic Lung Disease: Facilitating Smoking Cessation for their Caregivers. J Community Health. 2015 Jun; 40(3):409-13. PubMed

  • Halawa M, Abu-Hasan MN, ElMallah MK. Hereditary mucoepithelial dysplasia and severe respiratory distress. Respir Med Case Rep. 2015; 15:27-9. PubMed

  • Falk DJ, Todd AG, Lee S, Soustek MS, ElMallah MK, Fuller DD, Notterpek L, Byrne BJ. Peripheral nerve and neuromuscular junction pathology in Pompe disease. Hum Mol Genet. 2015 Feb 1; 24(3):625-36. PubMed

2014

  • AbuHasan M, ElMallah MK, Neal D, Brookes J. Salivary Amylase Level in Bronchoalveolar Fluid as a Marker of Chronic Pulmonary Aspiration in Children. Pediatric Allergy, Immunology and Pulmonology.2014 Sep 1;27(3):115-119. PMID:26697264 PubMed

  • ElMallah MK, Falk DJ, Nayak S, Federico RA, Sandhu MS, Poirier A, Byrne BJ, Fuller DD. Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice. Mol Ther. 2014 Apr; 22(4):702-12. PubMed

2013

  • Fuller DD, ElMallah MK, Smith BK, Corti M, Lawson LA, Falk DJ, Byrne BJ. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol. 2013 Nov 1; 189(2):241-9. PubMed

  • Falk DJ, Mah CS, Soustek MS, Lee KZ, ElMallah MK, Cloutier DA, Fuller DD, Byrne BJ. Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease. Mol Ther. 2013 Sep; 21(9):1661-7. PubMed

2012

  • ElMallah MK, Falk DJ, Lane MA, Conlon TJ, Lee KZ, Shafi NI, Reier PJ, Byrne BJ, Fuller DD. Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9. Hum Gene Ther Methods. 2012 Apr; 23(2):148-56. PubMed

  • ElMallah MK, Hendeles L, Hamilton RG, Capen C, Schuler PM. Management of patients with cystic fibrosis and allergic bronchopulmonary aspergillosis using anti-immunoglobulin e therapy (omalizumab). J Pediatr Pharmacol Ther. 2012 Jan; 17(1):88-92. PubMed

2011

  • ElMallah MK, Khan Y, Hochhaus G, Shuster JJ, Hendeles L. Systemic exposure to fluticasone MDI delivered through antistatic chambers. J Allergy Clin Immunol. 2011 Nov; 128(5):1113-5.e1-3. PubMed

  • Lee KZ, Qiu K, Sandhu MS, ElMallah MK, Falk DJ, Lane MA, Reier PJ, Byrne BJ, Fuller DD. Hypoglossal neuropathology and respiratory activity in pompe mice. Front Physiol. 2011; 2:31. PubMed

  • Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, ElMallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS. Pompe disease gene therapy. Hum Mol Genet. 2011 Apr 15; 20(R1):R61-8. PubMed

  • ElMallah MK, Prabhakaran S, Chesrown SE. Plastic bronchitis: resolution after heart transplantation. Pediatr Pulmonol. 2011 Aug; 46(8):824-5. PubMed

2002

  • ElMallah MK, Sands A, Casey F, Craig F, Mulholland C. Transcatheter Occlusion of the Patent Ductus Arteriosus (PDA): a Comparison between the Rashkind Double Umbrella and Cook Detachable Coil. Irish Journal of Medical Science, 2002; 171: 151-154. PMID: 15736355

2001

  • ElMallah MK, Hart PM, McClure M, Stevenson MR, Silvestri G, White ST, Chakravarthy U. Improvements in measures of vision and self-reported visual function after cataract extraction in patients with late-stage age-related maculopathy. Optometry and Vision Science. 2001; 78: 683-688. PMID: 11587203

2000

  • ElMallah MK, Chakravarthy U, Hart PM. Amblyopia: Is Visual Loss Permanent. British Journal of Ophthalmology. 2000 Sep; 84(9): 952-6  PMID: 10966943

  • Keeler-Klunk, AM, Zieger, M, Bircsak, S, Choudhury, S, Byrne, BJ, Sena-Esteves, M, and ElMallah, MK. "Systemic Delivery of AAVB1-GAA Gene Therapy for Respiratory Pathology in Pompe Disease." May 2017. Scholars@Duke
     
  • Stoica, L, Keeler, AM, Xiong, L, Kalfopoulos, M, Desrochers, K, Brown, RH, Sena-Esteves, M, Flotte, TR, and ElMallah, MK. "Restrictive Lung Disease in the Cu/Zn Superoxide-Dismutase 1 G93A Amyotrophic Lateral Sclerosis Mouse Model." American journal of respiratory cell and molecular biology 56, no. 3 (March 2017): 405-408. (Letter) Full Text
     
  • Lu, P, Liu, D, Bellve, K, Fogarty, K, ElMallah, MK, Lifshitz, L, and ZhuGe, R. "Bitter Tastant 1,10-Phenanthroline Activates Tas2r-Gustducin Signaling To Relax Airways, Resulting In A Decrease In Airway Resistance In Vivo." 2017. Scholars@Duke
     
  • Kalfopoulos, M, Wetmore, K, and ElMallah, MK. "Pathophysiology of alpha-1 antitrypsin lung disease." In Methods in Molecular Biology, 9-19. January 1, 2017. Full Text
     
  • Keeler, AM, Zieger, M, Liu, D, Salemi, J, ZhuGe, R, and ElMallah, MK. "Respiratory And Airway Smooth Muscle Pathology In A Pompe Disease Mouse Model." 2017. Scholars@Duke
     
  • Turner, SM, ElMallah, MK, Hoyt, AK, Greer, JJ, and Fuller, DD. "Ampakine CX717 potentiates intermittent hypoxia-induced hypoglossal long-term facilitation." Journal of neurophysiology 116, no. 3 (September 2016): 1232-1238. Full Text
     
  • Turner, SMF, Hoyt, AK, ElMallah, MK, Falk, DJ, Byrne, BJ, and Fuller, DD. "Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice." Respiratory physiology & neurobiology 227 (June 2016): 48-55. Full Text
     
  • Borel, F, Cardozo, B, Cox, A, Li, W, Hoffman, A, ElMallah, MK, and Mueller, C. "167. Genome Editing to Generate the First Mouse Model of Alpha-One Antitrypsin Deficiency, the Leading Cause of Genetic COPD." May 2016. Full Text
     
  • Stoica, L, Todeasa, SH, Cabrera, GT, Salameh, JS, ElMallah, MK, Mueller, C, Brown, RH, and Sena-Esteves, M. "Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model." Annals of neurology 79, no. 4 (April 2016): 687-700. Full Text
     
  • Loring, HS, ElMallah, MK, and Flotte, TR. "Development of rAAV2-CFTR: History of the First rAAV Vector Product to be Used in Humans." Human gene therapy methods 27, no. 2 (April 2016): 49-58. (Review) Full Text
     
  • Turner, S, Elmallah, MK, Hoyt, A, Greer, J, and Fuller, D. "Pretreatment with Ampakine CX717 Enhances Long-Term Facilitation (LTF) of Inspiratory Hypoglossal (XII) Bursting, But Only When Initial Burst Output is Low." April 2016. Scholars@Duke
     
  • ElMallah, MK, Stanley, DA, Lee, K-Z, Turner, SMF, Streeter, KA, Baekey, DM, and Fuller, DD. "Power spectral analysis of hypoglossal nerve activity during intermittent hypoxia-induced long-term facilitation in mice." Journal of neurophysiology 115, no. 3 (March 2016): 1372-1380. Full Text
     
  • Stoica, L, Xiong, L, Kalfopoulos, M, Desroshers, KV, and ElMallah, MK. "Characterization Of Pulmonary Mechanics Of The Sod1g93a Als Mouse Model." 2016. Scholars@Duke
     
  • Keeler, AM, Desroshers, KV, Xiong, L, and ElMallah, MK. "Exercise Induced Respiratory Insufficiency In A Murine Model Of Very Long-Chain Acyl-Coa Dehydrogenase Deficiency." 2016. Scholars@Duke
     
  • Borel, F, Gernoux, G, Cardozo, B, Metterville, JP, Toro Cabrera, GC, Song, L, Su, Q, Gao, GP, Elmallah, MK, Brown, RH, and Mueller, C. "Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates." Human gene therapy 27, no. 1 (January 2016): 19-31. Full Text
     
  • ElMallah, MK, Pagliardini, S, Turner, SM, Cerreta, AJ, Falk, DJ, Byrne, BJ, Greer, JJ, and Fuller, DD. "Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines." American journal of respiratory cell and molecular biology 53, no. 3 (September 2015): 326-335. Full Text
     
  • Bacewicz, A, Wang, W, Ashouri, J, and ElMallah, MK. "Children with Chronic Lung Disease: Facilitating Smoking Cessation for their Caregivers." Journal of community health 40, no. 3 (June 2015): 409-413. Full Text
     
  • ElMallah, MK, Stanley, D, and Fuller, D. "Hypoglossal long term facilitation shifts the power spectral density to higher frequencies." April 2015. Scholars@Duke
     
  • Turner, S, ElMallah, MK, Falk, D, Byrne, B, and Fuller, D. "Preferential Neuropathology in Respiratory-Related Motor Nuclei in Pompe Mice." April 2015. Scholars@Duke
     
  • Falk, DJ, Todd, AG, Lee, S, Soustek, MS, ElMallah, MK, Fuller, DD, Notterpek, L, and Byrne, BJ. "Peripheral nerve and neuromuscular junction pathology in Pompe disease." Human molecular genetics 24, no. 3 (February 2015): 625-636. Full Text
     
  • Halawa, M, Abu-Hasan, MN, and ElMallah, MK. "Hereditary mucoepithelial dysplasia and severe respiratory distress." Respiratory Medicine Case Reports 15 (2015): 27-29. Full Text
     
  • Wang, W, Bacewicz, A, Ashouri, J, Elmallah, RK, and ElMallah, MK. "Secondhand smoke exposure in children with chronic lung disease." In Nicotine Dependence, Smoking Cessation and Effects of Secondhand Smoke, 87-121. January 1, 2015. Scholars@Duke
     
  • Abu-Hasan, M, Elmallah, MK, Neal, D, and Brookes, J. "Salivary Amylase Level in Bronchoalveolar Fluid as a Marker of Chronic Pulmonary Aspiration in Children." Pediatric allergy, immunology, and pulmonology 27, no. 3 (September 2014): 115-119. Full Text
     
  • Fuller, D, Elmallah, MK, Ross, H, Cerreta, A, Corti, M, Smith, B, Poirier, A, Mandel, R, and Byrne, B. "Selective knockout of acid alpha-glucosidase GAA gene expression in the medulla alters breathing." April 2014. Scholars@Duke
     
  • Elmallah, MK, Falk, DJ, Nayak, S, Federico, RA, Sandhu, MS, Poirier, A, Byrne, BJ, and Fuller, DD. "Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice."Molecular therapy : the journal of the American Society of Gene Therapy 22, no. 4 (April 2014): 702-712. Full Text
     
  • ElMallah, MK, Pagliardini, S, Turner, SM, Greer, JJ, Byrne, BJ, and Fuller, DD. "Ampakines Enhance Respiratory Motor Output In A Murine Model Of Pompe Disease." 2014. Scholars@Duke
     
  • Fuller, DD, ElMallah, MK, Smith, BK, Corti, M, Lawson, LA, Falk, DJ, and Byrne, BJ. "The respiratory neuromuscular system in Pompe disease." Respiratory physiology & neurobiology 189, no. 2 (November 2013): 241-249. (Review) Full Text
     
  • Falk, D, Todd, A, Soustek, M, Cloutier, D, ElMallah, MK, Fuller, D, and Byrne, B. "P.17.9 AAV9 vector encoding hGAA improves synaptic pathology of the neuromuscular junction in Pompe disease." October 2013. Full Text
     
  • Falk, DJ, Mah, CS, Soustek, MS, Lee, K-Z, Elmallah, MK, Cloutier, DA, Fuller, DD, and Byrne, BJ. "Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease." Molecular therapy : the journal of the American Society of Gene Therapy 21, no. 9 (September 2013): 1661-1667. Full Text
     
  • Sandhu, MS, Elmallah, MK, Lane, MA, Reier, PJ, Greer, JJ, and Fuller, DD. "Ampakines induce a persistent increase in phrenic motor output in rats with cervical spinal cord injury." April 2013. Scholars@Duke
     
  • ElMallah, MK, Sandhu, MS, Lee, K-Z, Baekey, DM, and Fuller, DD. "Apnea Alters the Pattern of Intermittent Hypoxia-Induced Long Term Facilitation in Anesthetized Mice." April 2013. Scholars@Duke
     
  • Fuller, D, Elmallah, MK, Falk, D, Lawson, LA, Martin, AD, Smith, B, and Byrne, B. "The importance of targeting the central nervous system for treatment of respiratory insufficiency in Pompe disease."February 2013. Full Text
     
  • ElMallah, MK, and Hendeles, L. "Delivery of Medications by Metered Dose Inhaler Through a Chamber/Mask to Young Children with Asthma." Pediatric Allergy, Immunology, and Pulmonology 25, no. 4 (December 2012): 236-240. Full Text
     
  • ElMallah, MK, Falk, DJ, Lane, MA, Conlon, TJ, Lee, K-Z, Shafi, NI, Reier, PJ, Byrne, BJ, and Fuller, DD. "Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9."Human gene therapy methods 23, no. 2 (April 2012): 148-156. Full Text
     
  • Elmallah, MK, Khan, Y, Hochhaus, G, Shuster, JJ, and Hendeles, L. "Systemic exposure to fluticasone MDI delivered through antistatic chambers." The Journal of allergy and clinical immunology 128, no. 5 (November 2011): 1113-5.e1-3-. (Letter) Full Text
     
  • ElMallah, MK, Prabhakaran, S, and Chesrown, SE. "Plastic bronchitis: resolution after heart transplantation." Pediatric pulmonology 46, no. 8 (August 2011): 824-825. Full Text
     
  • Byrne, BJ, Falk, DJ, Pacak, CA, Nayak, S, Herzog, RW, Elder, ME, Collins, SW, Conlon, TJ, Clement, N, Cleaver, BD, Cloutier, DA, Porvasnik, SL, Islam, S, Elmallah, MK, Martin, A, Smith, BK, Fuller, DD, Lawson, LA, and Mah, CS. "Pompe disease gene therapy." Human molecular genetics 20, no. R1 (April 25, 2011): R61-R68. (Review) Full Text
     
  • Lee, K-Z, Qiu, K, Sandhu, MS, Elmallah, MK, Falk, DJ, Lane, MA, Reier, PJ, Byrne, BJ, and Fuller, DD. "Hypoglossal Neuropathology and Respiratory Activity in Pompe Mice." Frontiers in Physiology 2 (2011). Full Text
     
  • El Mallah, MK, Sands, AJ, Casey, FA, Craig, BG, and Mulholland, HC. "Transcatheter occlusion of the patent ductus arteriosus: a comparison of two devices." Irish journal of medical science 171, no. 3 (July 2002): 151-154. Full Text
     
  • El Mallah, MK, Chakravarthy, U, and Hart, PM. "Amblyopia: is visual loss permanent?." The British journal of ophthalmology 84, no. 9 (September 2000): 952-956. Full Text
     
  • Chakravarthy, U, El Mallah, MK, and Hart, PM. "Amblyopia: Is visual loss permanent." March 15, 2000. Scholars@Duke

Funding

  • 1R01HL177642-01  (PI: ElMallah)

    • Sponsor: IH/NICHD
      Title: Alveolar injury and repair in Pompe Disease

      This project will examine the impact of lung injury on Pompe disease and the ability of Pompe disease alveolar cells to repair and regenerate. We will also examine the impact of enzyme replacement therapy and gene therapy on the pathology in the alveolar cells.

  • Pfizer-GTF (PI: ElMallah, Postdoc: McCall)

    • ​​​​​​​​​​​​​​Sponsor: Pfizer/NCBiotech
      Title: “Distinguished Postdoctoral Fellowship in Gene Therapy”

      ​​​​​​​This competitive award funds two-year fellowships that enable early career scientists to conduct research in the laboratories of gene therapy-related investigators at any North Carolina university.

  • Sarepta Research Grant (PI: ElMallah)

    • ​​​​​​​​​​​​​​Sponsor: Sarepta
      Title: “Novel murine models of DMD”

      This grant provides support to study respiratory function in novel DMD mouse models and the impact of phosphorodiamidate morpholino oligomers (PPMOs) on respiratory function and pathology.

  • 1R21NS112781-01A1 (PI: ElMallah)

    • Sponsor: NIH/NINDS
      Title: “Respiratory Dysfunction in an Optineurin Knock Out ALS Mouse Model

      ​​​​​​​This grant examines the impact of intermittent hypoxia on neuroplasticity in optineurin deficient mice – an animal model of ALS.