When you bring your child to the Lysosomal Storage Disease Center, they will have access to experienced metabolic physicians, physician assistants, genetic counselors, neuropsychologists and social workers who coordinate and manage their care. We have a team on call and available 24/7 to answer any urgent questions your family may have.
We believe in sharing our knowledge and are dedicated to educating the medical community about lysosomal storage diseases (LSDs). We educate primary care physicians, hematologists, pulmonologists, cardiologists, otolaryngologists, orthopaedists and other clinicians about LSDs and their effects on individuals.
Our team also works closely with state newborn screening programs to implement screening of known lysosomal storage diseases. That way, LSDs can be detected and treated as early as possible.
Children’s Hospital of Philadelphia (CHOP) is actively involved in much of the groundbreaking research and clinical trials for various lysosomal storage disorders. Our LSD Center actively collaborates with CHOP’s Gene Therapy for Inherited Metabolic Disorders Program, a specialized program dedicated to assessing children with inborn errors of metabolism and developing new ways to manage these conditions.
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 at the forefront of emerging research and can 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
- 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