Pediatric Patients With Metabolic or Other Genetic Disorders

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · May 11, 2016

Keywords

ClinConnect Summary

This clinical trial is focused on children with genetic disorders, such as Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, and developmental delays. The goal is to recruit a diverse group of pediatric patients to help improve the skills of research staff at the National Institutes of Health (NIH) and to gather important information that could lead to new treatments and research methods. Children of any age with a known or suspected genetic disorder can be part of this study, as well as their family members.

Participants can expect a thorough screening process, which includes a medical history review and physical examination. They may also undergo various tests, such as blood and urine samples, imaging tests like X-rays or ultrasound, and even a sleep study. Family members might be asked to provide DNA samples too. Participants will receive comprehensive evaluations and may have follow-up visits for additional treatments if needed. Overall, this trial aims to enhance understanding and care for children with genetic disorders while providing valuable experience to the research team.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Subjects of any age with known or suspected genetic disorder
• • For relatives of subjects with a genetic disorder: Subject is a family member of the proband
• EXCLUSION CRITERIA:
• • -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