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Evaluation of Children With Endocrine and Metabolic-Related Conditions

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
3 Months to 100 Years
Sex
All sexes
Healthy volunteers
Not accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Visits mentioned: 1 visit
  • Procedures mentioned: Physical exams, X-rays, Ultrasound, Questionnaires

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "This may include a physical exam and medical history."
  • "These may include X-ray, ultrasound, scans, or a skeletal survey."
  • "Participating relatives will have one visit."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at how hormone and metabolism disorders pass through families and which genes may cause them. Hormones are signals in the body, and metabolism is how the body uses food for energy. The study is for children with known or suspected disorders; relatives may join the DNA testing part.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • Children ages 3 months to 18 years with a known or suspected hormone disorder.
  • Relatives ages 3 months to 100 years may join if their testing could help diagnose the child.

Who can't join

  • No suspected hormone disorder.
  • A medical, physical, mental health, or social condition that the study team believes makes joining unsafe or not in the person's best interest.
  • Critical illness, an unstable condition, or severe organ failure that could limit hormone testing and require more care than the study center can provide.

Simplified for readability. The official criteria below are what the study team uses.

Official eligibility 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.

Study sites (1)

MD