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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 : September 12, 2018
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) )

May 11, 2016
May 12, 2016
September 12, 2018
May 11, 2016
December 31, 2036   (Final data collection date for primary outcome measure)
Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]
Same as current
Complete list of historical versions of study NCT02769949 on ClinicalTrials.gov Archive Site
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Pediatric Patients With Metabolic or Other Genetic Disorders
Studies of Pediatric Patients With Metabolic or Other Genetic Disorders

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.

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.
Observational
Observational Model: Other
Time Perspective: Other
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  • Genetic Disorder
  • Asperger Disorder
  • Autism Spectrum Disorder
  • Fragile X Syndrome
  • Developmental Delay
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
5000
Same as current
December 31, 2036
December 31, 2036   (Final data collection date for primary outcome measure)
  • INCLUSION CRITERIA:
  • Protocol investigators will make the actual selection of patients most appropriate for establishing a clinical diagnosis as well as 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:

  • 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.
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact: John R Perreault, C.R.N.P. (301) 827-9235 john.perreault@nih.gov
United States
 
 
NCT02769949
160103
16-CH-0103
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National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not Provided
Principal Investigator: John R Perreault, C.R.N.P. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institutes of Health Clinical Center (CC)
April 9, 2018