Pediatric Patients With Metabolic or Other Genetic Disorders
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|ClinicalTrials.gov Identifier: NCT02769949|
Recruitment Status : Recruiting
First Posted : May 12, 2016
Last Update Posted : November 15, 2018
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.
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients.
Children any age with a known or suspected genetic disorder.
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:
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
Participants may have follow-up visits. They may get medical or surgical treatment.
|Condition or disease|
|Genetic Disorder Asperger Disorder Autism Spectrum Disorder Fragile X Syndrome Developmental Delay|
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 subjectsmay 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 ofsubjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Studies of Pediatric Patients With Metabolic or Other Genetic Disorders|
|Study Start Date :||May 11, 2016|
|Estimated Primary Completion Date :||December 31, 2036|
|Estimated Study Completion Date :||December 31, 2036|
- Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02769949
|Contact: John R Perreault, C.R.N.P.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||John R Perreault, C.R.N.P.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|