Protocol Details
Evaluation of Patients with Genetic Disorders
This study is NOT currently recruiting participants.
Summary
Number | 16-CH-0103 |
Sponsoring Institute | National Institute of Child Health and Human Development (NICHD) |
Recruitment Detail | Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 1 Years
Max Age: 99 Years |
Referral Letter Required | No |
Population Exclusion(s) | None |
Keywords | Genetics;
Metabolic;
Dysmorphic Syndromes;
Developmental Delay;
Genetic Counseling;
Natural History |
Recruitment Keyword(s) | None |
Condition(s) | Genetic Disorder;
Asperger Disorder;
Autism Spectrum Disorder;
Fragile X Syndrome;
Developmental Delay |
Investigational Drug(s) | None |
Investigational Device(s) | None |
Intervention(s) | None |
Supporting Site | National Institute of Child Health and Human Development |
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.
Eligibility
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
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT02769949