The following information may help to address your question:
Patients are typically seen at the NIH through participation in clinical trials. Clinical trials are medical research studies in which people participate as volunteers. They are a means of developing new treatments and medications for diseases and conditions. There are strict rules for clinical trials, which are monitored by the National Institutes of Health (NIH) and the U.S. Food and Drug Administration.
Some of the research studies at the NIH Clinical Center involve promising new treatments that may directly benefit patients. The Clinical Center does not charge patients for participation and treatment in clinical studies conducted at the NIH. In certain emergency circumstances, you may qualify for help with travel and other expenses.
You can search a database of clinical trials being conducted by the NIH at the Clinical Center in Bethesda, Maryland at the following link. You can also contact the Patient Recruitment and Public Liaison Office directly at 1-800-411-1222 to speak with a specialist, who can help you determine if you are eligible for any clinical trials.
In addition, the NIH through the National Library of Medicine has developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. You can search this database to find clinical trials at the NIH Clinical Center as well as federally and privately supported trials being conducted at universities and medical centers throughout the United States and around the world. To find clinical trials, click on the link above and use "urea cycle disorders" or "N-acetylglutamate synthase deficiency" as your search term.
When you find a study of interest, review its "eligibility" criteria to determine its appropriateness. Use the study's contact information to learn more. Check these sites often for regular updates.
If you are interested in enrolling your loved one in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), National Institutes of Health.
In addition, you can find research studies involving N-acetylglutamate synthase deficiency by searching the Research Portfolio Online Reporting Tool (RePORT). RePORT provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link above and enter "urea cycle disorder" or "N-acetylglutamate synthase deficiency" in the “Terms Search” box. Then click “Submit Query”.