Dr. Leanne M. Ward
Dr. Leanne Ward is a Professor of Pediatrics at the University of Ottawa where she has held a Research Chair in Pediatric Bone Health since 2010. She is the Scientific Director of the Ottawa Pediatric Bone Health Research Group, the Medical Director of the Pediatric Bone Health and Rare Bone Disease Clinic at the Children’s Hospital of Eastern Ontario (CHEO), a Senior Scientist at the CHEO Research Institute, and a Pediatric Endocrinologist in the Division of Endocrinology and Metabolism at CHEO.
Dr. Sze Choong (Jarod) Wong
Dr Jarod Wong is Senior Clinical Lecturer/Consultant Paediatric Endocrinologist based at Human Nutrition, College of Medicine, Veterinary and Life Sciences at the University of Glasgow with clinical commitments at the Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom. Dr. Wong leads the Bone, Endocrine, Nutrition Research Group in Glasgow (BEN-G).
Dr. Wong is the Lead of the Bone and Endocrine Working Group and Co-Lead of the Nutrition Working Group for DMD Care UK, a national collaboration between clinicians and patient group (Duchenne UK) aimed at developing and implementing standards of care across the UK. Dr. Wong is a Steering Committee Member of DMD Care UK (www.dmdcareuk.org). Dr. Wong is the Chair of the Clinical Committee for the British Society for Paediatric Endocrinology and Diabetes and sits on the Clinical Committee of the European Society of Paediatric Endocrinology.
For nearly 20 years, Dr. Wong’s research has primarily focused on the impact of chronic disorders, suboptimal nutrition, and glucocorticoid use on growth, puberty, and musculoskeletal outcomes.Dr. Wong is a member of the OPTIMIZE-DMD steering committee; co-chair of the osteoporosis working group and member of the adrenal insufficiency and weight management working group
Dr. Kim Phung
Bio Coming Soon!
Dr. Nat Nasomyont
Dr. Nat Nasomyont, MD, MS, is a board-certified pediatric endocrinologist and an Assistant Professor of Pediatrics at Cincinnati Children’s Hospital Medical Center, OH, USA. He is also an associate program director for the pediatric endocrinology fellowship training program.
Dr. Nasomyont’s primary clinical interest is metabolic bone disease and osteoporosis in children and adolescents. Dr. Nasomyont has been a member of Cincinnati Children’s interdisciplinary neuromuscular care team since 2021.
His current research focuses on the treatment of osteoporosis in patients with Duchenne Muscular Dystrophy (DMD). He has published studies on the uses of bisphosphonates and parathyroid hormone for osteoporosis in DMD.
Dr. Nasomyont currently serves as a junior co-chair for the osteoporosis work group and is a member of the sexuality and fertility work group within the OPTIMIZE DMD Consortium.
Dr. Anne Marie Sbrocchi
Anne Marie Sbrocchi, MD, FRCPC, is an Associate Professor in Pediatrics at the McGill University Health Centre and is the Division Director of Pediatric Endocrinology. In addition to working at the Montreal Children’s Hospital, she also works in the metabolic bone and endocrine clinic at the Shriners Hospital for Children Canada and is the co-medical director of their preoperative clinic.
She is active in teaching, advocacy and clinical research. Her work focuses on the comprehensive care of children with complex care needs, with a specialization in bone health and neuromuscular disorders. Currently she is involved in clinical trials studying the use of setrusumab for osteogenesis imperfecta, as well as vamorolone therapy for Duchenne muscular dystrophy.
She is a steering committee member of the Canadian Consortium for Children’s Bone Health and is a member of the OsNET (Canadian National Bone Health Research Network)and the CareLeuko network for leukodystrophy. She is the co-chair for the OPTIMIZE Duchenne Muscular Dystrophy Adrenal Working Group and is a member of the osteoporosis and growth and puberty working groups.
For professional inquiries: atannie.sbrocchi.med@ssss.gouv.qc.ca.
Dr. Cuixia Tian
Cuixia Tian, MD is ABPN board-certified Pediatric Neurologist specialized in neuromuscular disease. She is an Associate Professor and Attending physician at Cincinnati Children’s Hospital Medical Center, and affiliated faculty member at University of Cincinnati College of Medicine. Her research is focused on clinical trials and studies in pediatric neuromuscular diseases including DMD, SMA, BMD, CMD and Myotonic dystrophy.
She is leading the multidisciplinary comprehensive neuromuscular care program, also as clinical director of PPMD certified Duchenne Muscular Dystrophy care clinic and clinical director of Muscular Dystrophy Association clinic.
She is an active member of World Muscle Society, American Academy of Neurology, and Child Neurology Society. She is collaborating with both national and international neuromuscular specialists for multi-center and multidisciplinary studies, including participating as consortia member of CTAP and D-RSC. She has been awarded and led many clinical trials and studies sponsored by NIH, MDA, PPMD and industrial sponsors.
She is member of the OPTIMIZE DMD Consortium as working groupmember for both Weight and Osteoporosis management groups.
Dr. David R. Weber
Dr. David Weber is an attending Physician in Pediatric Endocrinology and the Associate Professor of Pediatrics, The Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania. Dr. Weber is the Medical Director of the Center for Bone Health and Research Director of the Nutrition and Growth Lab at CHOP. He is passionate about improving the endocrine and bone health care of people with DMD and has participated in multi-disciplinary neuromuscular clinics for over a decade, first at the University of Rochester and now at CHOP.
Dr. Weber’s research group is actively studying the impact of DMD and other chronic diseases on bone health. He also has an interest in rare disorders of bone mineral metabolism and is currently working on studies in conditions includingENPP1 and CYP24A1 deficiency.
Dr. Weber is currently co-chair of the Bone and Mineral Special Interest Group of the Pediatric Endocrine Society and a member of the Professional Practice Committee of the American Society of Bone and Mineral Research (ASBMR). Dr. Weber is a member of the Steering Committee, Co-Chair of the Adrenal Working Group, and a member of the Osteoporosis Working Group.
Dr. Janet L. Crane
Janet Crane, MD is an Associate Professor at Johns Hopkins University (JHU) with a joint appointment in Pediatric Endocrinology and the Orthopedic Surgery Center for Musculoskeletal Research. She serves as the director of the Pediatric Bone Health Clinic program at JHU and as a Clinical Associate at the Kennedy Krieger Institute Center for Genetic Muscle Disorders and Bone Disorders Program.
Dr. Crane’s research mission is to understand hormonal signaling pathways that regulate bone vasculature and sensory innervation in relationship to skeletal disorders and how these signaling pathways can be manipulated by pharmaceutical drug targets. She adapts this knowledge to develop treatment recommendations for children with bone disorders, specifically skeletal fragility, osteoporosis, and metabolic bone disease. Dr.Crane received the Young Physician-Scientist Award from the American Society for Clinical Investigation in 2016 and receives research grant funding from the U.S. National Institutes of Health and Department of Defense. Dr. Crane is a member of the Osteoporosis Prevention Working Group and the Growth and Puberty Working Group within OPTIMZE DMD.
Fun fact: Dr. Crane enjoys traveling and has set foot in 44 US states and 4 continents. Contact information :jcrane2@jhmi.edu
Dr. Maria Fernanda Ochoa Molina
María Fernanda Ochoa Molina, MD is a staff at Clinical Meds Santiago. She is a primary researcher in pediatric bone metabolism disorders, focusing on improving diagnostic and treatment protocols. Her research is focused on contributing to advancing clinical practices for bone health conditions in patient with DMD; secondary and primary Osteoporosis in addition to bone metabolism disorders.
She is active in SOCHIPE (Sociedad Chilena de Pediatría) ; SLEP (Sociedad Latinoamericana de Endocrinología Pediátrica), SCHOMM ( Sociedad Chinea de Osteología y metabolism mineral ) and Omtimize DMD Consortium, participating in national and regional networks that support interdisciplinary and multi-disciplinary approaches in pediatric endocrinology and bone health follow-up of cancer survivors, bone health in patients with neuromuscular diseases and bone mineral metabolism disease.
Her role involves contributing expertise in pediatric endocrinology and bone metabolism disorders. Providing clinical insights and research support focused on improving bone health outcomes for patients with Duchenne muscular dystrophy (DMD). My responsibilities include participating in multidisciplinary discussions, developing treatment protocols, and advancing collaborative research initiatives within the consortium.
Dr. Meilan M. Rutter
Dr. Meilan Rutter is Professor of Pediatrics in the Division of Endocrinology at Cincinnati Children’s Hospital and the University of Cincinnati. She completed her training in pediatrics and pediatric endocrinology in the United Kingdom, New Zealand, and the USA, before her appointment as a pediatric endocrinologist at Cincinnati Children’s in 2005.
She provides care for children, adolescents and young adults with a wide spectrum of endocrine conditions, with a clinical and research focus on improving the health of people with endocrine complications associated with Duchenne Muscular Dystrophy (DMD). She has served as the primary endocrinologist for the comprehensive interdisciplinary Neuromuscular Center at Cincinnati Children’s from 2006 and is also a member of the Center’s Leadership Committee. She has contributed to international awareness of the importance of proactively addressing endocrine and bone health issues in people with DMD and has conducted research and co-authored multiple publications in this field. She has been part of the OPTIMIZE-DMD Consortium since its inauguration in 2023.
Within OPTIMIZE-DMD, she serves on the Steering Committee, as co-chair of the Growth and Puberty working group, and as a member of the Weight Management and Bone Health working groups
Dr. Melissa Fiscaletti
Dr. Melissa Fiscaletti is an Assistant Professor in the Department of Pediatrics at the School of Rehabilitation at Université de Montréal. She is also a dedicated clinical researcher. As the Medical Co-Director of the Metabolic Bone Clinic at the Sainte Justine University Hospital, Dr. Fiscaletti plays a central role in providing comprehensive care for children with metabolic bone disorders. She is a also a key contributor to the neuromuscular clinic at the Marie-Enfant Rehabilitation Center.
Dr. Fiscaletti’s research at the Sainte Justine Azrieli Research Center in Montreal is centered on secondary (acquired) bone fragility in children with complex medical conditions. She is an investigator in several pharmaceutical trials focused on osteoporosis, osteogenesis imperfecta, achondroplasia, generalized calcification of infancy and contributed to the PETALe cohort study. Currently, she leads the POP-CMC study and biobank, investigating the potential of polygenic risk scores in predicting disuse bone fragility in children with complex medical conditions.
Dr. Fiscaletti is a steering committee member of the Canadian Consortium of Children’s Bone Health (CCCBH). She is also a member of OsNet, a Canadian network advancing bone research and RareQc, a network focussed on promoting research collaboration for rare diseases in Quebec. As a contributor to OPTMIZE DMD Consortium, Dr. Fiscaletti works to enhance research, education and advocacy surrounding bone clinical outcomes in Duchenne muscular dystrophy (DMD).
Dr. Nadia Merchant
Nadia Merchant, MD, FAAP, FACMG is a Pediatric Endocrinologist and Geneticist, Assistant Professor of Pediatrics, UT Southwestern, Dallas, Texas; Children’s Health, Dallas, Texas. Her clinical roles are focused on Bone Clinic, Duchenne Muscular Dystrophy Clinic, Skeletal Dysplasia Clinic and general Endocrine and Diabetes
Her research interest is in bone health, growth disorders, improving the management of endocrinopathies in genetic disorders with special interest in skeletal dysplasias, Duchenne Muscular Dystrophy, X-linked adrenoleukodystrophy and calcium disorders.
Dr. Merchant is a part of DEI Committee for ACMG (American College of Medical Genetics), Executive Committee Member for Section of Endocrinology (SOEn) for AAP (American Academy of Pediatrics), Skeletal Disorders Gene Curation Expert Panel for ClinGen. In the Optimize DMD she is the chair of Obesity Working Group; Member of the Osteoporosis Working Group. Fun Fact, I ran 13 half marathons.
Contact Information: nadia.merchant@utsouthwestern.edu
Pat Furlong
Pat graduated from Mt. St. Joseph College in Cincinnati, Ohio with a BS in Nursing. She attended Graduate School at Ohio State University. While attending Ohio State, Pat spent most of her time in the Medical Intensive Care Unit. After marrying Dr. Tom Furlong, Pat ran the Renal Dialysis Unit and Patient Education Center at Akron General Hospital. With four children, Pat continued her career on a part-time basis, teaching patient education classes at Middletown Regional Hospital.
Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (Duchenne). Its mission is to improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne through research, advocacy, education, and compassion.
Along with leading PPMD, Pat speaks about Duchenne and related topics at conferences each year worldwide and is an active Board member with the National Health Council. She is also a committee member of CTTI (Clinical Trials Transformation Initiative) and serves on the data safety monitoring board for both the Rare Diseases Clinical Research Network and Cooperative International Neuromuscular Research Group.
Dr. Paula R. Clemens
Bio Coming Soon!
Dr. Rana Halloun
Bio Coming Soon!
Dr. Shipra Bansal
Bio Coming Soon!
Dr. Stefan Nicalou
Dr. Nicolau is a principal investigator in the Center for Gene Therapy at Nation wide Children’s Hospital. His lab focuses on translational development of gene editing therapies for DMD and other muscle disorders, with a particular emphasis on genetic mutations that require insertion of hundreds or thousands of base pairs into genomic DNA.
His team’s first goal is to apply novel gene editing technologies to correct these mutations. In addition, they aim to investigate and address the obstacles to in vivo muscle gene editing, including viral delivery mechanisms, muscle regeneration and immune responses.
Dr. Nicolau was the recipient of the Duchenne Research Fund Prize at the 2023 Annual Congress of the World Muscle Society. Dr. Nicolau is an editorial board member for Neurology: Genetics and a member of the OPTIMIZE DMD Osteoporosis Prevention and Growth and Puberty working groups
