This trial is active, not recruiting.

Condition focal dermal hypoplasia
Sponsor University of Colorado, Denver
Start date July 2015
End date March 2016
Trial size 16 participants
Trial identifier NCT02463656, 14-2127


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model case-only
Time perspective cross-sectional

Primary Outcomes

Determination of Growth Hormone Deficiency
time frame: 1 day

Secondary Outcomes

Determination of poor growth
time frame: 1 day
Determination of poor weight gain
time frame: 1 day

Eligibility Criteria

Male or female participants from 3 years up to 18 years old.

Inclusion Criteria: - patients with focal dermal hypoplasia - between the ages of 3 and 18 years - ability to fast overnight, and - weight at least 9 kg Exclusion Criteria: - pregnant individuals, - weight less than 9 kg

Additional Information

Principal investigator Stephanie C Hsu, MD
Trial information was received from ClinicalTrials.gov and was last updated in May 2016.
Information provided to ClinicalTrials.gov by University of Colorado, Denver.