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Pediatric Genetic Disorders Research

The clinical research team in the Division of Genetics, Genomics & Metabolism is dedicated to advancing our understanding and management of genetic conditions. There are many different types of research that help achieve this goal. Research takes a group effort, so we work internally as a team, work with other divisions at Lurie Children’s, and work with experts at other hospitals and companies that do research. Clinical research is done with people. It helps find new and better ways to treat and prevent disease.

Types of clinical research include:

  • Natural History Studies are also called observational studies. They are designed to track the course of a disorder, sometimes called a disease. Their purpose is to identify factors that may affect the progression and outcome of a disease. Natural history studies do not assign a specific intervention or treatment to participants.
  • Clinical Trials are also called interventional studies. Researchers assign participants to get one or more interventions, such as a new drug or medical device. Clinical trials are organized into four phases (I to IV):
    • Phase I is sometimes called a “safety study” because its main purpose is to determine a safe dose range for a drug and collect information about side effects.
    • Phase II is designed to see if the drug is effective in treating a medical condition within the safe dose range.
    • Phase III is done after Phase I and Phase 2 trials have been successful. Long-term data is collected on a drug’s safety and how well it works.
    • Phase IV studies are done after a drug has received approval from the Food and Drug Administration (FDA). Researchers continue to collect long-term data on a drug’s safety and how well it works.

Our areas of research include studies on the following genetic conditions:

  • Amino acid disorders are characterized by the body’s inability to break down or process (metabolize) certain amino acids properly. This causes a toxic buildup of the amino acid in the body, which then leads to various health problems.
    • Phenyketonuria (PKU) is the most prevalent of the amino acid disorders, characterized by the body’s inability to properly process the amino acid phenylalanine.
  • Neurofibromatosis causes tumors (usually non-cancerous or benign) to grow on nerves and other parts of the body. Tumor growth affects many organ systems in the body, including the bones, skin, eyes, ears and brain.
  • Fatty acid oxidation disorders are characterized by the body’s inability to break down certain types of fats for energy, especially during periods of fasting or illness.  This leads to a toxic build-up of fat in tissues, as well as a lack of energy.
  • Urea cycle disorders affect how the body removes waste from the breakdown of protein, which leads to a dangerous buildup of ammonia in the blood.
  • Achondroplasia is the most common genetic cause of a type of dwarfism. Bones, especially in the arms and legs don’t grow properly, which leads to shorter stature and may also cause health issues, such as joint problems.
  • Lysosomal storage disorders (LSDs) are characterized by a buildup of toxic products within specialized structures inside our cells called lysosomes, which leads to damage in various tissues and organs.
    Examples of LSDs include:
    • Mucopolysaccharidoses (MPS)
    • Metachromatic leukodystrophy (MLD)
    • Pompe disease
    • Fabry disease
    • Gaucher disease
    • Acid sphingomyelinase deficiency (ASMD)

To Search for Clinical Trials of Interest to You

For trials at Lurie Children’s, please see: 

Stanley Manne Children's Research Institute at Lurie Children's

For trials nationwide, including at Lurie Children’s, please see:

ClinicalTrials.gov

Questions or inquiries for any of the clinical research trials can be directed to Carolyn Prokop, Clinical Research Manager, at Ccprokop@luriechildrens.org.