Diagnosing and treating inborn errors of metabolism
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders
This study is testing how to better diagnose and treat people with inborn errors of metabolism, specifically focusing on those with arterial calcification caused by CD73 deficiency.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 4000 (estimated) |
| Ages | 1 Month to 115 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00369421 on ClinicalTrials.gov |
What this trial studies
This study focuses on diagnosing and treating patients with inborn errors of metabolism, particularly arterial calcification due to CD73 deficiency. Researchers will conduct comprehensive evaluations using accepted medical procedures, including medical history, physical exams, and various tests. Patients may be treated on an outpatient basis, but those needing specialized care will be admitted to the NIH Clinical Center. The goal is to enhance understanding of these rare disorders and facilitate access to patients for further research and clinical experience.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 1 month or older with known or suspected inborn errors of metabolism or genetic predispositions.
Not a fit: Patients without a known or suspected inborn error of metabolism or those who are not medically stable may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with rare metabolic disorders.
How similar studies have performed: Other studies focusing on genetic disorders have shown promise, indicating that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: William A Gahl, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: William A Gahl, M.D.
- Email: gahlw@mail.nih.gov
- Phone: (301) 402-2739
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.