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Evaluation of Children With Endocrine and Metabolic-Related Conditions

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.
 
ClinicalTrials.gov Identifier: NCT02769975
Recruitment Status : Recruiting
First Posted : May 12, 2016
Last Update Posted : July 7, 2022
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:

Endocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders.

Objective:

To study the inheritance of endocrine or metabolism disorders.

Eligibility:

Children ages 3month-18 with known or suspected endocrine or metabolism disorders.

Family members ages 3months-100. They may participate in the DNA part of the study.

Design:

Participants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released.

Participants will have a clinic visit. This may include a physical exam and medical history.

Parents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include:

Blood, urine, and saliva tests

Growth hormone test

Pituitary and adrenal function tests

Picture of chromosomes

Imaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey.

Genetic tests

Sleep study

Medical photographs

If surgery is done, a tissue sample will be taken.

Participants may have follow-up visits for diagnosis and treatment.

Participating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.


Condition or disease
Adrenal Insufficiency Growth Disorder Endocrine Diseases Metabolic Disease Bone Diseases, Metabolic

Detailed Description:

Study Description:

This protocol is designed to allow endocrine-related evaluations of children with known or suspected endocrine or metabolic disorders.

Children with endocrine or metabolic-related condition(s) who may or may not be eligible for a specific NICHD research protocol, may be evaluated under the auspices of this protocol. Standard clinically 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 National Institutes of Health (NIH) Clinical Center (CC) according to current clinical practice. 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.

Objectives:

Primary Objective:

-Comprehensive evaluation of pediatric endocrine diseases and conditions as well as track natural progress of the development of such

conditions in diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder.

Secondary Objective:

-Samples for molecular genetic or WES testing

Endpoints:

Primary Endpoint:

Appraisal of number and diversity of endocrine related diagnosis of patients evaluated on this protocol.

Secondary Endpoints:

-Number of samples for molecular genetic or WES testing.

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Study Type : Observational
Estimated Enrollment : 15000 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Evaluation of Children With Endocrine and Metabolic-Related Conditions
Actual Study Start Date : July 12, 2016
Estimated Primary Completion Date : December 31, 2030
Estimated Study Completion Date : December 31, 2030

Resource links provided by the National Library of Medicine


Group/Cohort
Case Only
Children ages 3 months to 100 with known or suspected endocrine or metabolism disorders. Family members ages 3 months to 100. They may participate in the DNA part of the study



Primary Outcome Measures :
  1. Provide an option for patients with unusual or challenging endocrine or metabolic conditions, who may or may not be eligible for an existing research protocol, to be evaluated at NIH. [ Time Frame: Baseline ]
    Provide an option for patients with unusual or challenging endocrine or metabolic conditions, who may or may not be eligible for an existing research protocol, to be evaluated at NIH.

  2. Recruit a diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder in order to provide NICHD investigators and trainees with hands-on experience related to the diagnosis, management, treatment, and follo... [ Time Frame: Baseline ]
    Recruit a diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder in order to provide NICHD investigators and trainees with hands-on experience related to the diagnosis, management, treatment, and follow-up of p


Secondary Outcome Measures :
  1. All studies or procedures (other than biospecimens/DNA) that are not clinically indicated need to be explicitly described in the protocol or approved by amendment. [ Time Frame: Ongoing ]
    All studies or procedures (other than biospecimens/DNA) that are not clinically indicated need to be explicitly described in the protocol or approved by amendment.

  2. Any prospective (including pilot investigations) or retrospective hypothesis driven research for patients enrolled in this protocol must be approved by the NICHD Office of the Clinical Director and NICHD IRB. [ Time Frame: Ongoing ]
    Any prospective (including pilot investigations) or retrospective hypothesis driven research for patients enrolled in this protocol must be approved by the NICHD Office of the Clinical Director and NICHD IRB.

  3. Clinical evaluation of children with unusual or challenging endocrine or metabolic conditions may include whole exome sequencing (WES) or other new molecular technologies to identify the molecular genetic etiology [ Time Frame: Ongoing ]
    Clinical evaluation of children with unusual or challenging endocrine or metabolic conditions may include whole exome sequencing (WES) or other new molecular technologies to identify the molecular genetic etiology



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.


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Ages Eligible for Study:   3 Months to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children with endocrine or metabolic-related condition(s) who may or may not be eligible for a specific NICHD research protocol, 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.
Criteria
  • INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

  • Participants with known or suspected endocrine disorder age 3 months-18 years are eligible for this protocol.
  • Relatives ages 3 months-100 years may be enrolled if clinically indicated for the diagnosis of a proband.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

  • Lack of suspected endocrine disorders.
  • Any medical, physical, 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, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect/limit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.

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): NCT02769975


Contacts
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Contact: Margaret F Keil, C.R.N.P. (301) 435-3391 keilm@mail.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: Margaret F Keil, 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: NCT02769975    
Other Study ID Numbers: 160113
16-CH-0113
First Posted: May 12, 2016    Key Record Dates
Last Update Posted: July 7, 2022
Last Verified: June 7, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: .The protocol does not address an IPD plan.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Endocrinology
Obesity
Pediatric
Growth Disorder
Pubertal Development
Additional relevant MeSH terms:
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Bone Diseases
Bone Diseases, Metabolic
Metabolic Diseases
Adrenal Insufficiency
Endocrine System Diseases
Growth Disorders
Musculoskeletal Diseases
Adrenal Gland Diseases
Pathologic Processes