At the CHOC Research Institute, we know a rare disease diagnosis can be devastating for families. Our work focuses on developing and improving treatments for children with rare conditions that either do not respond to traditional treatments or that do not have current treatments.

Our innovative research in rare diseases spans from our Metabolic Rare Disease Program (MRDP) – which comprises about 80% of the pediatric rare diseases we encounter at CHOC – to rare diseases in hematology, neurology, oncology and neuro-oncology, cardiology, pulmonology, infectious disease, gastroenterology, critical care and urology.

Our Metabolic Rare Disease Program (MRDP) is among the first comprehensive programs in the U.S. to offer the full continuum of services for children with rare metabolic conditions. Patients and their families have direct access to board-certified specialists, nurse practitioners, dietitians, genetic counselors, nurses and social workers, as well as diagnostic and research laboratory scientists, PhDs and doctoral students who can provide the latest therapies, including clinical trials. Our program advances research and education, and streamlines access to inpatient and outpatient services, resulting in better outcomes for children with rare diseases.

All our research activities are focused on rare or ultra-rare diseases and include:

• Adrenoleukodystrophy (ALD): ALD is a metabolic disease that can be devastating for patients and families if not identified and treated early. Since the start of the State of CA Newborn Screening Program, we have established a multidisciplinary clinic for clinical care and research that includes pediatric metabolic, neurology and endocrinology experts, as well as genetic counselors, case managers and social workers.
• Glycogen Storage Disease (GSD)
• Inborn Errors of Metabolism (IEM) Clinic
• Lysosomal Storage Diseases (LSD)
• Multidisciplinary Mucopolysaccharidosis Center
• Neurometabolic Disorders
• Newborn Screening: The MRDP program is the designated Orange County center for the evaluation and treatment of children with a presumed metabolic disease through the State of California Newborn Screening Program. MRDP has been instrumental in developing guidelines for the confirmatory testing of these conditions and has published extensively in this subject.
• Phenylketonuria (PKU)

Our Metabolic Rare Disease Research Model

The CHOC MRDP includes four arms: Clinical Support, Basic Science Research, Translational Science Research and Clinical Trials. Together, they create our bed-bench-bed research model, where children and families are always at the center of our work. Focusing on each individual patient, we conduct research to bring cutting-edge treatments back to the bedside of patients and their families, to improve outcomes and increase quality of life.

Our clinics are typically the “first stop,” where patients with rare metabolic diseases are evaluated, and biochemical and genetic diagnostic workup is done. Patients with disorders difficult to diagnose, as well as those affected by disorders that fit our existing programs, are considered for research protocols through the Basic Science Research arm. The Basic Science Laboratories investigate the mechanisms of the diseases and test potential treatments in cell cultures. Then, our Translational Science Research arm focuses on providing the pre-clinical data needed for FDA applications so that Clinical Trials of novel therapies may begin. Findings from Clinical Trials can then be used to innovate care for patients of our current rare disease clinics, as well as provide care for previously untreated rare disorders internationally.