Pediatric Patients With Metabolic or Other Genetic Disorders
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT02769949 |
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Recruitment Status :
Recruiting
First Posted : May 12, 2016
Last Update Posted : September 12, 2018
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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 or disease |
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| Genetic Disorder Asperger Disorder Autism Spectrum Disorder Fragile X Syndrome Developmental Delay |
| Study Type : | Observational |
| Estimated Enrollment : | 5000 participants |
| Observational Model: | Other |
| Time Perspective: | Other |
| 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 ]
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, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
- INCLUSION CRITERIA:
- Protocol investigators will make the actual selection of patients most appropriate for establishing a clinical diagnosis as well as 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:
- 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.
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) 827-9235 | john.perreault@nih.gov |
| 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 prpl@cc.nih.gov | |
| Principal Investigator: | John R Perreault, C.R.N.P. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
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 |
| First Posted: | May 12, 2016 Key Record Dates |
| Last Update Posted: | September 12, 2018 |
| Last Verified: | April 9, 2018 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
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Genetics Metabolic Dysmorphic Syndromes Developmental Delay Genetic Counseling |
Additional relevant MeSH terms:
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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 |