St. Joseph’s Children’s Hospital provides diagnostic, evaluation, management, and treatment services for patients with neurogenetic and lysosomal storage diseases. We participate in clinical research to better understand these conditions as well as to develop and evaluate therapies. We offer a comprehensive team approach to care that is broad based across many medical specialties. Our team includes multiple physicians and support staff who work closely together within a comprehensive network of pediatric and adult specialists. Our cohesive group of healthcare providers work together with the shared goal of providing outstanding personalized care for our patients.
The Neurogenetics and Lysosomal Storage Disease Center is committed to being on the cutting edge of research and treatment, providing comprehensive and compassionate care for all of our patients affected by neurogenetic diseases. As one of the largest programs in New Jersey, the Neurogenetics and Lysosomal Storage Disease Center combines advanced clinical care with opportunities for participation in clinical research and patient registries.
We provide evaluations for the following diseases/conditions:
- CADSIL
- Leukodytrophies
- Niemann-Pick disease
- Mucolipidoses
- Gaucher disease
- Fabry disease
- MPSI Type I (also known as Hurler, Hurler-Scheie, or Scheie syndrome)
- MPSII (also known as Hunter syndrome)
- MPSIV (also known as Morquio syndrome)
- MPSVI (also known as Maroteaux-Lamy)
- Pompe disease
- Hereditary spastic paraplegia
- Familial dystonia, paroxysmal dystonia
- Familial ataxias
- Familial Alzheimer’s disease
- Charcot Marie Tooth disease
- Wilson’s disease
- Mitochondrial encephalomyopathies
- Genetic Epilepsy Syndrome
We are currently involved in enzyme replacement therapy for patients with Gaucher disease, Fabry disease, Pompe disease, Hurler syndrome, Hunter syndrome, Morquio syndrome and Maroteaux-Lamy syndrome.
