Clinical Trial: Genetic Causes of Growth Disorders

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational



Official Title: Genetic Causes of Growth Disorders

Brief 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 partic