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 : April 22, 2021
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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: | Evaluation of Patients With Genetic Disorders |
| Actual Study Start Date : | May 3, 2016 |
| Estimated Primary Completion Date : | January 1, 2029 |
| Estimated Study Completion Date : | January 1, 2029 |
| Group/Cohort |
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Genetic Disorders and family members
subjects with genetic disorders and family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders.
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- Recruit Patients with Suspected or diagnosed genetic diseases [ Time Frame: Ongoing ]observational/exploratory suspected or diagnosed genetic diseases
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 |
| Sampling Method: | Non-Probability Sample |
- INCLUSION CRITERIA:
- Subjects of any age with known or suspected genetic disorder
- Subjects determined by a study investigator to be appropriate for clinical training
- Subject engaged in care with a community-based healthcare provider
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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
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) |
| Responsible Party: | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| ClinicalTrials.gov Identifier: | NCT02769949 |
| Other Study ID Numbers: |
160103 16-CH-0103 |
| First Posted: | May 12, 2016 Key Record Dates |
| Last Update Posted: | April 22, 2021 |
| Last Verified: | February 25, 2021 |
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Genetics Metabolic Dysmorphic Syndromes Developmental Delay Genetic Counseling |
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Fragile X Syndrome Genetic Diseases, Inborn Disease Autism Spectrum Disorder 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 |