Status:
TERMINATED
Genetic Causes of Growth Disorders
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborating Sponsors:
National Institutes of Health (NIH)
Conditions:
Short Stature
Growth Disorder
Eligibility:
All Genders
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 t...
Detailed Description
Children often present to pediatricians and pediatric endocrinologists because of abnormal body growth, including both childhood growth failure and, less commonly, overgrowth. Sometimes the cause is e...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- If a subject meets any one of these criteria, he/she will potentially be eligible to participate:
- Short stature (height less than - 2 SDS), either currently or previously - or
- Tall stature (height greater than + 2 SDS) or
- Bone age delay (greater than 3 years) or
- Bone age advancement (\>1.5 years) or
- Predicted adult height \< - 2SD
- Predicted adult height - mid-parental height \< -2SDS or \> 2SDS
- Growth disorder that was treated promptly, thus maintaining the child s height within the normal range, e.g. a subject with congenital growth hormone deficiency or multiple pituitary hormone deficiency of unknown genetic etiology who received growth hormone treatment beginning in early life or
- Family member of subjects who meet any of the above criteria
- Subjects have a current height at a low normal percentile but has short adult height prediction based on bone age (\> 5 inches shorter than mid-parent height)
- Any subject who has more than one of the above criteria and elevated DHEA-S concentration for age
- In addition, subjects are only eligible, if, the pedigree suggests a monogenic inheritance, and, in the judgement of the investigators, there is a reasonable likelihood of identifying a novel gene responsible for the condition.
- Investigators may recruit study subjects through The Genomic Ascertainment Cohort (TGAC) to identify specific subjects with sequence variants in genes of interest associated with growth disorders to investigate the phenotype spectrum, regardless of the above criteria.
- Investigators may recruit study additional subjects through the NIDDK repository to identify specific subjects with sequence variants in genes of interest associated with growth disorders to investigate the phenotype spectrum, regardless of the above criteria. Investigators may first identify subjects with height \< 3rd% from these cohorts, request their DNA samples and sequence their DNA to identify a variant in a gene of interest.
- If subjects have abnormal bone age x-ray findings, investigators may use the findings as a maker for chondrodysplasia and study subjects with the findings. To recruit subjects, bone age x-rays obtained under teaching protocol (00-CH-0180 and 16-CH-0113) may be reviewed. If the subjects with abnormal findings are still followed by NIH, this study will be introduced to the patient and family. However, if subjects had been discharged from NIH care, they will not be re-contacted but their data may be still included in the prevalence of the abnormal finding. If collaborators wish to review their bone age x-rays obtained from their patients with short stature to identify the eligible subjects, they will obtain approval from their IRB. If some subjects are identified and the family agrees to participate, then collaborators refer them to our research team.
- EXCLUSION CRITERIA:
- A non-genetic disorder or condition, either congenital or acquired, that explains the growth abnormality, for example, pituitary injury, chronic thyroiditis, whole body irradiation, or celiac disease.
- In the opinion of the investigators, there is an established diagnosis of a genetic disorder or condition that explains the growth abnormality and for which the molecular genetic etiology has already been identified, for example, SHOX deficiency, hypochondroplasia, or Noonan syndrome.
Exclusion
Key Trial Info
Start Date :
December 2 2014
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 14 2023
Estimated Enrollment :
334 Patients enrolled
Trial Details
Trial ID
NCT02311322
Start Date
December 2 2014
End Date
March 14 2023
Last Update
March 16 2023
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892