Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Aug 25, 2006

Keywords

ClinConnect Summary

This clinical trial is focused on diagnosing and treating patients with specific genetic disorders known as inborn errors of metabolism, particularly a condition called arterial calcification due to a deficiency of a protein called CD73. The goal is to improve our understanding of these conditions and to provide opportunities for patients to participate in research that could lead to better treatments.

Eligible participants include individuals aged one month and older who have a known or suspected metabolic disorder. The study will take place at the NIH Clinical Center, where patients will receive thorough evaluations, including medical history reviews, physical exams, and various tests like blood and urine tests. Most patients will be treated on an outpatient basis, but those needing more specialized care may be admitted to the hospital. Participants can expect to be part of a supportive environment where their health needs are prioritized, and many will also have the chance to contribute to important research that could help others with similar conditions.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Participants 1 month or older will have been or will be referred to this protocol with a known or suspected inborn error of metabolism, heritable disorder, or genetic predisposition. Participants over two years of age will be admitted only if they are medically stable and require admission to the Clinical Center for diagnosis. Children ages 1 month to 2 years or under 12 kg will be reviewed by the Pediatric Consult Service prior to scheduling and if approved will be evaluated.
• • Examples of disorders that will be under this protocol 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 participants and offer admission based upon the potential to help the individual, to learn from the participant, or to initiate clinical or basic research suggested by the participant 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 participants 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 participants shall be seen as inpatients, outpatients or via Telehealth at the discretion of the principal investigator, based upon particular research interests and expertise. Normal adult volunteers aged 18 years or older will be enrolled to provide control blood and urine specimens.
• EXCLUSION CRITERIA:
• • Participants under 1 month of age will not be seen at the NIH Clinical center because care is more readily proffered to older individuals at the Clinical Center.
• • Participants over two years of age will not be admitted if they are medically unstable and do not require admission to the Clinical Center for diagnosis.
• • Pregnant women are excluded.