Pediatric Patients With Metabolic or Other Genetic Disorders

Overview

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.

The aim of this protocol is to allow genetic-related evaluations for patients with a variety of known or suspected genetic disorders.) If not eligible for a specific NICHD research protocol, patients with genetic-related conditions may be evaluated under the auspices of this protocol to provide stimuli for new clinical research initiatives. Standard medically-indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. Clinical data and excess biospecimens collected as part of clinical care will be analyzed for research purposes. In some cases, the subjects may receive medical or surgical treatment for their disorder at the NIH CC according to current clinical practice. The overall purpose of genetic evaluations under this protocol is to support our research missions, generate hypotheses bank specimens for analysis or future use as controls. Family members of subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.