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Genetic Causes of Growth Disorders

NCT02311322 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 334

Last updated 2023-03-16

No results posted yet for this study

Summary

Background:

\- Some growth disorders are caused by a change in genes. Genes are the instructions the body uses to function. Changes in genes often cause them not to work correctly. Researchers want to use a new technology called exome sequencing, to look at many genes at once. This is done by looking at DNA from blood or saliva in a lab. This method may help find the cause of disorders that researchers haven t been able to find using past methods.

Objectives:

\- To better understand genetic causes of growth disorders.

Eligibility:

\- Children and adults with growth disorders and their family members.

Design:

* Participants will give a small sample of blood and/or saliva.
* Researchers will purify DNA from the sample. They will perform exome sequencing and other tests to look for changes in genes. Some participants may receive limited or no genetic tests. Researchers will let them know if exome sequencing is performed.
* Participants may have a medical history, physical exam, and lab tests. They may have x-rays or ultrasound tests to study the disorder in their family.
* Some participants may be recommended for a specific genetic test from a commercial lab. They may have to pay for that test.
* Participants will be told about test results that relate to the growth disorder. This may happen up to years after the testing. They may have to give another blood and/or saliva sample.
* Some participants may get results about other health conditions. This will only happen if the information would help the person or their family protect their health. They may have to give another blood and/or saliva sample.

Conditions

  • Short Stature
  • Growth Disorder
  • Syndromic Growth Disorder
  • Tall Stature

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • Youn H Jee, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-12-02
Primary Completion
2023-03-14
Completion
2023-03-14

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02311322 on ClinicalTrials.gov