Our patients have access to experienced metabolic physicians, physician assistants, genetic counselors, neuropsychologists and social workers that coordinate and manage their care. We have a team on call and available 24/7 to answer urgent questions for families.
We are dedicated to educating the medical and general community about LSDs. We educate primary care physicians, hematologists, pulmonologists, cardiologists, otolaryngologist, orthopaedists and other clinicians about lysosomal storage disorders. Our team works closely with state newborn screening programs to implement screening of LSDs.
Children’s Hospital of Philadelphia (CHOP) is actively involved in much of the groundbreaking research and clinical trials for various lysosomal storage disorders. Our experts are committed to better understanding and characterizing LSDs, as well as improving treatments and therapies. By serving as a site for clinical drug trials, our LSD Center is able to remain at the forefront of the emerging research and provide our patients with access to new treatments.
Research study highlights