Mitochondrial Hepatopathies Long-term Observation: The MITOHEP Study

Longitudinal Study of Mitochondrial Hepatopathies

Protocol Description

This study investigates rare liver diseases called mitochondrial hepatopathies that occur in infants, children and young adults. These diseases are the result of problems with mitochondria, which are found in every cell and are involved in the production of energy. Mitochondrial hepatopathies are inherited liver diseases that may cause problems in other organs including the muscles, heart, brain, and kidneys. Through this study, the Childhood Liver Disease Research Network (ChiLDReN) will collect and share medical data from participants to help researchers better understand the causes and effects of these diseases over time. The study will take place at UPMC Children’s Hospital of Pittsburgh through the University of Pittsburgh.

Eligibility Criteria

Subject to certain exclusion criteria, the study is open to individuals of both genders, from birth through age 18, who have been diagnosed with mitrochondrial hepatopathy.
Males and Females: Birth through age 18


Medical record information and blood and/or saliva samples will be collected for each participant. Sample collection for research purposes will be planned whenever possible to occur at the same time it is being done for routine clinical tests. Blood or saliva samples from parents will also be requested for DNA analysis.
Visits: 1 per year
Duration: Up to 20 years

Status: Open to Enrollment

Source(s) of Support

National Institute of Diabetes and Digestive and Kidney Diseases

Primary Investigator

Simon Horslen, MD

Contact Information

For more information about the study or enrollment, please contact:
Susan Richey, RN