NCT02463656|Completed
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Sponsor study identifier
observational
16
0 countries
N/A
Study Start
July 15, 2015
Actual (reported)Primary Completion
March 30, 2016
Actual (reported)Study Completion
May 31, 2018
Actual (reported)Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
May 31, 2018
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
June 2, 2015
Actual (reported)June 4, 2015
Actual (reported)July 15, 2015
Actual (reported)March 30, 2016
Actual (reported)May 31, 2018
Actual (reported)Determination of Growth Hormone Deficiency
Glucagon growth hormone stimulation test
1 day
Determination of poor growth
1 day
Determination of poor weight gain
1 day
Children with focal dermal hypoplasia
Stephanie C Hsu, MD
University of Colorado, Denver
16 participants (actual enrollment reported by the registry).
First Submitted
June 2, 2015
First Posted
June 4, 2015
Study Start
July 15, 2015
Actual (reported)Contact the study team to confirm eligibility.
Primary Completion
March 30, 2016
Actual (reported)Study Completion
May 31, 2018
Actual (reported)Last Updated
June 18, 2018
Record last verified: 2018-06
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Source: ClinicalTrials.gov.
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