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Pediatric Patients With Metabolic or Other Genetic Disorders

This study is currently recruiting participants.
Verified October 31, 2017 by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT02769949
First Posted: May 12, 2016
Last Update Posted: November 8, 2017
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.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
  Purpose

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

Study Type: Observational
Study Design: Observational Model: Other
Time Perspective: Other
Official Title: Studies of Pediatric Patients With Metabolic or Other Genetic Disorders

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):

Primary Outcome Measures:
  • Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]

Estimated Enrollment: 5000
Study Start Date: May 11, 2016
Estimated Study Completion Date: December 31, 2036
Estimated Primary Completion Date: December 31, 2036 (Final data collection date for primary outcome measure)
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 child participant 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 children evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may be enrolled in the genetic/DNA testing part of the protocol.
  Eligibility

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:
  • Participants with known or suspected genetic disorder ages 0 to any years are eligible for this protocol. Protocol investigators will make the actual selection of patients most appropriate 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:

  • There are no formal 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.
  Contacts and Locations
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
Contact: John R Perreault, C.R.N.P. (301) 827-9235 john.perreault@nih.gov

Locations
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 Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
Principal Investigator: John R Perreault, C.R.N.P. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

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 Submitted: May 11, 2016
First Posted: May 12, 2016
Last Update Posted: November 8, 2017
Last Verified: October 31, 2017

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:
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