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Pediatric Patients With Metabolic or Other Genetic Disorders
This study is currently recruiting participants.
Verified July 6, 2017 by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
ClinicalTrials.gov Identifier:
NCT02769949
First received: May 11, 2016
Last updated: July 7, 2017
Last verified: July 6, 2017
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Purpose
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 |
|---|
| Genetic Disorder Asperger Disorder Autism Spectrum Disorder Fragile X Syndrome Developmental Delay |
| Study Type: | Observational |
| Study Design: | Observational Model: Other Time Perspective: Other |
| Official Title: | Studies of Pediatric Patients With Metabolic or Other Genetic Disorders |
Resource links provided by NLM:
Genetic and Rare Diseases Information Center resources:
Fragile X Syndrome
X-linked Mental Retardation and Macro-orchidism
U.S. FDA Resources
Further study details as provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Primary Outcome Measures:
- Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]
| Estimated Enrollment: | 5000 |
| Study Start Date: | April 27, 2016 |
| Estimated Study Completion Date: | December 31, 2036 |
| Estimated Primary Completion Date: | December 31, 2036 (Final data collection date for primary outcome measure) |
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 child participant 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 children evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may be enrolled in the genetic/DNA testing part of the protocol.
Eligibility| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
Criteria
- INCLUSION CRITERIA:
- Participants with known or suspected genetic disorder ages 0 to any years are eligible for this protocol. Protocol investigators will make the actual selection of patients most appropriate for clinical training.
- Existence of a referring community health care provider who would be able to manage medical care outside of NIH.
- Relatives may be enrolled if clinically indicated for the diagnosis of a proband.
EXCLUSION CRITERIA:
- There are no formal exclusion criteria.
- Any medical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient. Patients who are critically ill, unstable, or with severe organ failure that may effect/limit the evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.
- Subjects with disabilities are not formally excluded from the study unless the disability would specifically prevent their participation.
Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.
Please refer to this study by its ClinicalTrials.gov identifier: NCT02769949
Please refer to this study by its ClinicalTrials.gov identifier: NCT02769949
Contacts
| Contact: Margarita J Raygada, Ph.D. | (301) 451-8822 | mr346j@nih.gov |
Locations
| 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 Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov | |
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
| Principal Investigator: | Margarita J Raygada, Ph.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
More Information
Additional Information:
| Responsible Party: | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| ClinicalTrials.gov Identifier: | NCT02769949 History of Changes |
| Other Study ID Numbers: |
160103 16-CH-0103 |
| Study First Received: | May 11, 2016 |
| Last Updated: | July 7, 2017 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
|
Genetics Metabolic Dysmorphic Syndromes Developmental Delay Genetic Counseling |
Additional relevant MeSH terms:
|
Disease Autism Spectrum Disorder Fragile X Syndrome Genetic Diseases, Inborn Asperger Syndrome Pathologic Processes Child Development Disorders, Pervasive Neurodevelopmental Disorders Mental Disorders Mental Retardation, X-Linked |
Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Sex Chromosome Disorders Chromosome Disorders Congenital Abnormalities Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System |
ClinicalTrials.gov processed this record on September 21, 2017