Bethesda, Maryland 20892

  • Arterial Calcification Due to Deficiency of CD73


Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Patients participating in this study will be examined and treated on an out patient basis, if practical. However, patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary. Researchers will use only accepted medical procedures in diagnosing (medical history, physical examinations, X-ray studies, eye examinations, blood tests, and urine tests) and treating the patients involved in this study. Additional tests may be required on a case to case basis. Many patients seen in this study will go on to be enrolled in a specific disease-related research study.<TAB>

Study summary:

We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Individual patients seen under this protocol have prompted the establishment of specific disease-related protocols involving intensive natural history studies and innovative therapies. In the past, this protocol provided an avenue for admitting patients as part of the NIH Undiagnosed Diseases Program (UDP). Currently, this protocol continues its longstanding role in investigating individuals who are of interest to the Section on Human Biochemical Genetics or to the protocol s Associate Investigators.


- Inclusion/Exclusion criteria Patients enrolled in this protocol will have been referred with a known or suspected inborn error of metabolism, heritable disorder, or genetic predisposition. Examples include inherited developmental defects or diatheses toward infections, cancer, or an environmentally induced disease. The principal investigator, along with consulting specialists, will review the medical records of prospective subjects and offer admission based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient s workup. This protocol is not intended to serve as an umbrella protocol for small studies of specific disorders. In general, no more than 5 families known to have the same disorder will be investigated under this protocol. Some subjects will be relatives of patients with known diagnoses, and their specimens will be obtained for the purpose of heterozygote testing or to serve as controls to help diagnose the proband. All subjects shall be admitted as inpatients or outpatients at the discretion of the principal investigator, based upon particular research interests and expertise. We will not admit patients under one month of age to this protocol. This exclusion occurs because there is no urgency for a very early diagnosis and care is more readily proffered to older individuals at the Clinical Center. Patients under two years of age will be admitted only if they are medically stable and require admission to the Clinical Center for diagnosis. Normal adult volunteers will be enrolled to provide control blood and urine specimens. NIH employees and members of their immediate families may participate in this protocol as normal volunteers. We will follow the Guidelines for the Inclusion of Employees in NIH Research Studies and will give each employee a copy of the NIH information sheet on Employee Research Participation. For NIH employees: 1. Neither participation nor refusal to participate will have an effect, either beneficial or adverse, on the participant s employment or work situation. 2. The NIH information sheet regarding NIH employee research participation will be distributed to all potential subjects who are NIH employees. 3. The employee subject s privacy and confidentiality will be preserved in accordance with NIH Clinical Center policies, which define the scope and limitations of the protections. 4. For NIH employee subjects, consent will be obtained by an individual independent of the employee s team. Those in a supervisory position to any -12- employee and co-workers of the employee will not obtain consent. 5. The importance of maintaining confidentiality when obtaining potentially sensitive and private information from co-workers or subordinates will bereviewed with the study staff at least annually and more often if warranted. Vulnerable subjects (e.g., children and adults unable to provide consent) are included because their investigation under this protocol can lead to diagnosis, prognosis, therapy, and membership in a community devoted to improving their lives.



Primary Contact:

Principal Investigator
William A Gahl, M.D.
National Human Genome Research Institute (NHGRI)

William A Gahl, M.D.
Phone: (301) 402-2739

Backup Contact:


Location Contact:

Bethesda, Maryland 20892
United States

There is no listed contact information for this specific location.

Site Status: Recruiting

Data Source:

Date Processed: November 27, 2022

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