RECRUITING

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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\>

Official Title

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders

Quick Facts

Study Start:1978-09-12
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00369421

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Month to 115 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. * 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.
  2. * 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.
  3. * Pregnant women are excluded.

Contacts and Locations

Study Contact

William A Gahl, M.D.
CONTACT
(301) 402-2739
gahlw@mail.nih.gov

Principal Investigator

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

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Human Genome Research Institute (NHGRI)

  • William A Gahl, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date1978-09-12
Study Completion DateN/A

Study Record Updates

Study Start Date1978-09-12
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

  • Biochemical Diseases
  • Rare Diseases
  • Family Studies
  • Screening
  • Next Generation Sequencing
  • Natural History

Additional Relevant MeSH Terms

  • Arterial Calcification Due to Deficiency of CD73