Evaluation of Patients With Genetic Disorders

Status: Completed
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1
Maximum Age: 99
Healthy Volunteers: f
View:

• 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

Locations
United States
Maryland
National Institutes of Health Clinical Center
Bethesda
Time Frame
Start Date: 2016-05-03
Completion Date: 2025-07-08
Participants
Target number of participants: 96
Treatments
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.
Genetic disorders
Participants with genetic disorders
Authors
Margarita J Raygada
Sponsors
Leads: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

This content was sourced from clinicaltrials.gov