Evaluation of Children With Endocrine and Metabolic-Related Conditions
| Status: | Recruiting |
|---|---|
| Conditions: | Orthopedic, Endocrine, Endocrine, Endocrine, Endocrine, Gastrointestinal |
| Therapuetic Areas: | Endocrinology, Gastroenterology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any - 18 |
| Updated: | 8/11/2018 |
| Start Date: | May 11, 2016 |
| End Date: | December 31, 2030 |
| Contact: | Margaret F Keil, C.R.N.P. |
| Email: | keilm@mail.nih.gov |
| Phone: | (301) 435-3391 |
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 0 18 with known or suspected endocrine or metabolism disorders.
Family members ages 0 100. 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.
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 0 18 with known or suspected endocrine or metabolism disorders.
Family members ages 0 100. 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.
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 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 National Institutes of Health (NIH) Clinical Center (CC) according to current
clinical practice. The overall purpose of endocrine 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.
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 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 National Institutes of Health (NIH) Clinical Center (CC) according to current
clinical practice. The overall purpose of endocrine 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.
- INCLUSION CRITERIA:
- Participants with known or suspected endocrine disorder ages 0-18 years are eligible
for this protocol. Protocol investigators will make the actual selection of patients
most appropriate for clinical training.
- Relatives ages 0- 100 years may be enrolled if clinically indicated for the diagnosis
of a proband.
EXCLUSION CRITERIA:
- There are no formal exclusion criteria
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-2563
Phone: 800-411-1222
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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