Why Choose Us for LSD Care

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

• Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease
• Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094
• Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
• Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)
• RGX-111 Gene Therapy in Patients With MPS I
• RGX-121 Gene Therapy in Patients with MPS II
• Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease
• Lysosomal Acid Lipase (LAL) Deficiency Registry
• A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)
• Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
• Genzyme: LSD Joint Registry
  • Pompe Disease Registry
  •  Fabry Disease Registry
  • Mucopolysaccharidosis I (MPS I) Registry
  • International Collaborative Gaucher Group (ICGG) Gaucher Registry
• A Multicenter, Multicountry, Postmarketing Active Surveillance Taliglucerase alfa Registry in Patients with Gaucher Disease*
• Hunter Outcome Survey (HOS)
• Gaucher Outcome Survey (GOS)
• EliBone – Observational study of Cerdelga® in adult Gaucher Disease Type 1 patients