For Healthcare Professionals

Pediatric Patients With Metabolic or Other Genetic Disorders


About the study

Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research. Objectives: To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients. Eligibility: Children any age with a known or suspected genetic disorder. Design: Participants will be screened with medical history and physical exam. They may have lab and other tests. Family members may give DNA samples. Participants will have: Medical history Physical exam Height, weight, and other measurements taken. A clinical evaluation of their disorder. They may have: Blood, urine, and saliva samples taken Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey. A sleep study A visit with other specialists at NIH A genetic test from a commercial lab Medical photographs taken Other tests Participants may have follow-up visits. They may get medical or surgical treatment.

Who can take part

You may be eligible to participate in the study if you meet the following criteria:



  • Subjects of any age with known or suspected genetic disorder
  • Subjects determined by a study investigator to be appropriate for clinical training
  • Subject engaged in care with a community-based healthcare provider
  • For relatives of subjects with a genetic disorder:

    Subject is a family member of the proband



    -Presence of a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation

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    Study Locations

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    How to Apply

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    Study’s details


    Genetic Disorder,Asperger Disorder,Autism Spectrum Disorder,Fragile X Syndrome,Developmental Delay

    Participants needed


    Est. Completion Date

    Jan 1, 2029

    Treatment type



    National Institutes of Health Clinical Center (CC) identifier


    Study number


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