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Pediatric Patients With Metabolic or Other Genetic Disorders

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. Identifier: NCT02769949
Recruitment Status : Recruiting
First Posted : May 12, 2016
Last Update Posted : May 20, 2022
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Brief Summary:

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:

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
Genetic Disorder Asperger Disorder Autism Spectrum Disorder Fragile X Syndrome Developmental Delay

Detailed Description:
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 subjects 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 subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.

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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

Family members
Family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders.
Genetic disorders
subjects with genetic disorders

Primary Outcome Measures :
  1. Recruit Patients with Suspected or diagnosed genetic diseases [ Time Frame: Ongoing ]
    observational/exploratory suspected or diagnosed genetic diseases

Information from the National Library of Medicine

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.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Community dwelling subjects with genetic disorders
  • 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
  • For relatives of subjects with a genetic disorder:

    • Subject is a family member of the proband


-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

Information from the National Library of Medicine

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 identifier (NCT number): NCT02769949

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Contact: John R Perreault, C.R.N.P. (301) 827-9235

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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   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: John R Perreault, C.R.N.P. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Additional Information:
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Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Identifier: NCT02769949    
Other Study ID Numbers: 160103
First Posted: May 12, 2016    Key Record Dates
Last Update Posted: May 20, 2022
Last Verified: January 5, 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Dysmorphic Syndromes
Developmental Delay
Genetic Counseling
Natural History
Additional relevant MeSH terms:
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Fragile X Syndrome
Genetic Diseases, Inborn
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