Growth Arrest in Focal Dermal Hypoplasia

Focal Dermal Hypoplasia Clinical Trial

Official title:

Growth Arrest in Focal Dermal Hypoplasia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02463656
• Other study ID #: 14-2127
• Status: Completed
• Start date: July 15, 2015
• Est. completion date: May 31, 2018

Study information

• Verified date: June 2018
• Source: University of Colorado, Denver
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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 information / eligibility

• Status: Completed
• Enrollment: 16
• Est. completion date: May 31, 2018
• Est. primary completion date: March 30, 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Focal Dermal Hypoplasia

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University of Colorado, Denver

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Determination of Growth Hormone Deficiency	Glucagon growth hormone stimulation test	1 day
Secondary	Determination of poor growth	Bone age x-rays will be read independently and compared to the accepted standards and quantified as a standard deviation from chronological age.	1 day
Secondary	Determination of poor weight gain	Evaluation of IGF-1 levels which are frequently low in children who are underweight or poorly nourished.	1 day