Pediatric Genetic Disorders Research

The clinical research team in the Division of Genetics works on a variety of research studies. These include natural history studies which document the course of disorders before treatment and during treatment. We are also involved in Phase I (first in human) through Phase IV (post-FDA approval) clinical trials. The focus of these trials is to develop new therapies and improve existing therapies. Genetic disorders that are studied include:

• Phenylketonuria (PKU), and other amino acid disorders
• Neurofibromatosis
• Fatty acid oxidation disorders
• Urea cycle disorders
• Achondroplasia
• Lysosomal storage disorders
  • Mucopolysaccharidoses (MPS)
  • Metachromatic leukodystrophy (MLD)
  • Pompe disease
  • Fabry disease
  • Gaucher disease.

Questions or inquiries for any of the clinical research trials can be directed to Rachel Katz, Clinical Research Manager, at RKatz@luriechildrens.org.