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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 : May 20, 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) )

Tracking Information
First Submitted Date May 11, 2016
First Posted Date May 12, 2016
Last Update Posted Date May 20, 2019
Actual Study Start Date May 3, 2016
Estimated Primary Completion Date January 1, 2029   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 10, 2019)
Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]
observational/exploratory suspected or diagnosed genetic diseases
Original Primary Outcome Measures
 (submitted: May 11, 2016)
Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]
Change History Complete list of historical versions of study NCT02769949 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Pediatric Patients With Metabolic or Other Genetic Disorders
Official Title Evaluation of Patients With Genetic Disorders
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.

...

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.
Study Type Observational
Study Design Observational Model: Other
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Community dwelling subjects with genetic disorders
Condition
  • Genetic Disorder
  • Asperger Disorder
  • Autism Spectrum Disorder
  • Fragile X Syndrome
  • Developmental Delay
Intervention Not Provided
Study Groups/Cohorts Genetic Disorders
subjects with genetic disorders
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: May 11, 2016)
5000
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 1, 2029
Estimated Primary Completion Date January 1, 2029   (Final data collection date for primary outcome measure)
Eligibility 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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: John R Perreault, C.R.N.P. (301) 827-9235 john.perreault@nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02769949
Other Study ID Numbers 160103
16-CH-0103
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )
Study Sponsor Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators Not Provided
Investigators
Principal Investigator: John R Perreault, C.R.N.P. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date April 9, 2019