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Trial record 41 of 52 for:    Developmental Disabilities | Recruiting Studies | NIH

Pediatric Patients With Metabolic or Other Genetic Disorders

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ClinicalTrials.gov Identifier: NCT02769949
Recruitment Status : Recruiting
First Posted : May 12, 2016
Last Update Posted : November 15, 2019
Sponsor:
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.

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
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


Group/Cohort
Genetic Disorders
subjects with genetic disorders



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



Information from the National Library of Medicine

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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
Criteria
  • 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
  • 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


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 ClinicalTrials.gov identifier (NCT number): NCT02769949


Contacts
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Contact: John R Perreault, C.R.N.P. (301) 827-9235 john.perreault@nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
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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)
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, 2019
Last Verified: April 9, 2019
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:
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Child Development Disorders, Pervasive
Intellectual Disability
Fragile X Syndrome
Genetic Diseases, Inborn
Disease
Autism Spectrum Disorder
Asperger Syndrome
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders
Mental Retardation, X-Linked
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System