Pediatric Patients With Metabolic or Other Genetic Disorders
Study Details
Study Description
Brief Summary
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.
Condition or Disease | Intervention/Treatment | Phase |
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Detailed Description
The aim of this protocol is to allow genetic-related evaluations for patients with a variety of known or suspected genetic disorders, supplement and offer an additional opportunity for training in clinical genetics, dysmorphology and metabolic genetics in the National Institute of Child Health and Human Development (NICHD) and other Institutes of the National Institutes of Health (NIH). If not eligible for a specific NICHD research protocol, patients with genetic-related conditions may be evaluated under the auspices of this protocol to advance the clinical skills of physicians participating in NICHD clinical research and training programs, and 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. 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 clinical training and research missions. Family members of subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.
Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Family members Family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders. |
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Genetic disorders subjects with genetic disorders |
Outcome Measures
Primary Outcome Measures
- Recruit Patients with Suspected or diagnosed genetic diseases [Ongoing]
observational/exploratory suspected or diagnosed genetic diseases
Eligibility Criteria
Criteria
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INCLUSION CRITERIA:
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Subjects of any age with known or suspected genetic disorder
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Subjects determined by a study investigator to be appropriate for clinical training
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Subject engaged in care with a community-based healthcare provider
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For relatives of subjects with a genetic disorder:
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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
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
---|---|---|---|---|---|
1 | National Institutes of Health Clinical Center | Bethesda | Maryland | United States | 20892 |
Sponsors and Collaborators
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
- Principal Investigator: John R Perreault, C.R.N.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study Documents (Full-Text)
None provided.More Information
Additional Information:
Publications
None provided.- 160103
- 16-CH-0103