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 26, 2018

See Contacts and Locations

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) )

Study Description

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 subjectsmay 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 ofsubjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.

Study Design


Study Type :	Observational
Estimated Enrollment :	5000 participants
Observational Model:	Other
Time Perspective:	Other
Official Title:	Evaluation of Patients With Genetic Disorders
Study Start Date :	May 11, 2016
Estimated Primary Completion Date :	December 31, 2036
Estimated Study Completion Date :	December 31, 2036

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Autism spectrum disorder Fragile X syndrome

Genetic and Rare Diseases Information Center resources: Fragile X Syndrome

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]

Eligibility Criteria

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, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

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

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 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


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:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site


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 26, 2018
Last Verified:	November 21, 2018

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

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