Clinical Trial: Growth Arrest in Focal Dermal Hypoplasia
Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational
Official Title:
Brief Summary: 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.
Detailed Summary:
Sponsor: University of Colorado, Denver
Current Primary Outcome: Determination of Growth Hormone Deficiency [ Time Frame: 1 day ]
Original Primary Outcome: Growth hormone stimulation test [ Time Frame: 1 day ]
Current Secondary Outcome:
- Determination of poor growth [ Time Frame: 1 day ]Bone age x-rays will be read independently and compared to the accepted standards and quantified as a standard deviation from chronological age.
- Determination of poor weight gain [ Time Frame: 1 day ]Evaluation of IGF-1 levels which are frequently low in children who are underweight or poorly nourished.
Original Secondary Outcome:
Information By: University of Colorado, Denver
Dates:
Date Received: June 2, 2015
Date Started: July 2015
Date Completion: June 2017
Last Updated: May 25, 2016
Last Verified: May 2016