This study is currently recruiting participants.
Number
16-CH-0103
Sponsoring Institute
National Institute of Child Health and Human Development (NICHD)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Genetics; Metabolic; Dysmorphic Syndromes; Developmental Delay; Genetic Counseling; Natural History
Recruitment Keyword(s)
Condition(s)
Genetic Disorder; Asperger Disorder; Autism Spectrum Disorder; Fragile X Syndrome; Developmental Delay
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Child Health and Human Development
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.
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INCLUSION 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 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
-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
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
Principal Investigator
Referral Contact
For more information: