Carol C. Gregorio, PhD
The Duchenne Muscular Dystrophy Program at Mount Sinai provides comprehensive, family-centered care for children and adolescents, combining the latest research with individualized treatment plans.
In this Q&A, Carol C. Gregorio, PhD, Director of the Duchenne Muscular Dystrophy Program at Mount Sinai, explains how this unique program brings together expert clinicians across multiple pediatric specialties to deliver coordinated, individualized care plans tailored to each child’s medical and developmental needs.
Dr. Gregorio also serves as Principal Investigator, Senior Associate Dean for Basic Science, and Director of the Center for Cardiac Muscle Biology at the Icahn School of Medicine at Mount Sinai, where she works closely with clinical leadership to integrate cutting-edge research with comprehensive patient care.
How does this program help families?
Families benefit from a multidisciplinary care model that integrates pediatric neurology, cardiology, pulmonology, orthopedic surgery, physical and occupational therapy, nutrition, and physical medicine and rehabilitation. In close collaboration with researchers at the Icahn School of Medicine, the care team is able to incorporate evolving evidence and connect families with clinical research opportunities aimed at improving diagnosis, treatment, and long-term outcomes. This integrated approach supports thoughtful, evidence-informed care while prioritizing safety, clinical appropriateness, and quality of life throughout childhood and adolescence.
What makes the program unique?
A defining feature of the Mount Sinai Duchenne Muscular Dystrophy Program is its close collaboration between its clinical care teams, and translational researchers at the Icahn School of Medicine. This partnership allows families access to the latest advances in Duchenne research, including innovative diagnostics and opportunities to participate in clinical trials. Equally important is how care is delivered. Families are supported by a dedicated clinical program manager who coordinates appointments, streamlines multidisciplinary visits, and ensures continuity of care between clinic visits. This model reduces the burden on families and allows clinicians to work together efficiently and proactively.
What aspects of Duchenne muscular dystrophy are addressed through the program?
The Duchenne Muscular Dystrophy Program at Mount Sinai focuses on the comprehensive management of the multisystem effects of Duchenne muscular dystrophy. Care is centered on addressing progressive muscle weakness, delayed motor milestones, and contractures, while proactively monitoring disease progression over time.
In addition, the program provides ongoing surveillance and management of cardiac and respiratory involvement, including cardiomyopathy, declining pulmonary function, sleep-disordered breathing, and related complications. Through coordinated, longitudinal care, the team works to anticipate challenges, intervene early, and support function, comfort, and quality of life. The program also supports patients through adolescence and facilitates a structured transition to adult clinical services at Mount Sinai, ensuring continuity of care as medical needs evolve.
Why should physicians refer patients to the Duchenne Muscular Dystrophy Program at Mount Sinai?
Referring physicians can be confident that patients will receive comprehensive, coordinated care from a multidisciplinary team experienced in managing the complexities of Duchenne muscular dystrophy. Our program offers streamlined access to pediatric subspecialists, evidence-based management, and ongoing communication with referring providers. This model supports early intervention, longitudinal follow-up and smooth transitions across stages of care, all within the Mount Sinai Health System.
To make a referral, call 212-824-9015 or email MtSinaiDMD@mssm.edu.
Program Contact and Care Coordination: Jennifer E. Gomez, MSN, CPNP-PC, Program Manager