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Comparative effectiveness of therapy in rare diseases: liver transplantation vs. conservative management of urea cycle disorders
Investigator (PI): Ah Mew, Nicholas
Past Investigator: Tuchman, Mendel
Performing Organization (PO): (Current): Children's National Health System, Children's Research Institute / (202) 476-6215
Supporting Agency (SA): Patient-Centered Outcomes Research Institute (PCORI)
Initial Year: 2016
Final Year: 2020
Record Source/Award ID: PCORI/CER-1502-27816
Funding: Total Award Amount: $2,092,011
Award Type: Contract
Award Information: PCORI: More information and project results (when completed)
Abstract: Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain. UCD causes brain damage, intellectual and developmental disabilities, and even death. Treatment involves a special diet low in protein, drugs that help metabolize ammonia, and amino acid supplements (conservative management). Many patients and families choose liver transplantation rather than conservative treatment; both alternatives are effective in reducing or normalizing blood ammonia. Although liver transplantation eliminates the ammonia problem, conservative management does so only temporarily; in many patients, blood ammonia can rise during an infection. The long-term objective of this study is to help patients make decisions about management alternatives (conservative vs. liver transplantation) by providing them with scientific information. The questions we will address are: What is the disease's risk of mortality and illness in the two treatment approaches? What can parents expect in terms of their children's development and school performance? What are the expected effects of each treatment on short-term and long-term quality of life? This research will have two components. In one, we will use statistical methods to compare numbers or percentages of survival, illness, psychological testing for IQ, executive function, memory, behaviors, and quality of life between patients who choose conservative management and those who choose liver transplantation. Some of this information is already being collected by the Urea Cycle Disorders Consortium in 14 metabolic clinics (11 of them in the United States) as part of its long-term follow-up study. To ensure that the information we analyze is representative of the UCD patient population in the United States, we will also obtain data from the Studies of Pediatric Liver Transplantation registry, which collects information about children who undergo liver transplantation for many different diseases (including UCD). The second component will consist of individual interviews and focus groups with patients and/or families, and their medical providers, to determine important issues to consider when deciding whether to opt for liver transplantation or to continue conservative management. The National Urea Cycle Disorders Foundation and the Patients' Research Working Group collaborated with the clinical investigators to design this research and to ensure that it covers the questions most important to patients and their families. The results of this study will be disseminated to patients, their doctors, and clinical staff so that patients receive current, validated information before making a decision about the best treatment.
MeSH Terms:
  • Ammonia /blood
  • Child
  • * Comparative Effectiveness Research
  • Decision Making
  • Follow-Up Studies
  • Humans
  • Intelligence Tests
  • Liver Transplantation /*methods
  • Models, Statistical
  • Outcome Assessment (Health Care)
  • Quality of Life
  • Registries
  • Risk
  • United States
  • Urea Cycle Disorders, Inborn /*surgery
  • /therapy
Country: United States
State: District of Columbia
Zip Code: 20010
UI: 20162105
CTgovId: NCT02740153
Project Status: Ongoing
Record History: ('2019: Project extended to 2020. 2017: PI changed to Ah Mew.',)