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 : November 15, 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 |
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 |
| 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:
- 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) |
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: | November 15, 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 |