Growth Arrest in Focal Dermal Hypoplasia
- Conditions
- Focal Dermal Hypoplasia
- Registration Number
- NCT02463656
- Lead Sponsor
- University of Colorado, Denver
- 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 Description
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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 16
- patients with focal dermal hypoplasia
- between the ages of 3 and 18 years
- ability to fast overnight, and
- weight at least 9 kg
- pregnant individuals,
- weight less than 9 kg
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Determination of Growth Hormone Deficiency 1 day Glucagon growth hormone stimulation test
- Secondary Outcome Measures
Name Time Method Determination of poor growth 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 1 day Evaluation of IGF-1 levels which are frequently low in children who are underweight or poorly nourished.