Growth Arrest in Focal Dermal Hypoplasia

June 14, 2018 updated by: University of Colorado, Denver
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.

Study Overview

Status

Completed

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.

Study Type

Observational

Enrollment (Actual)

16

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Children with focal dermal hypoplasia

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Determination of Growth Hormone Deficiency
Time Frame: 1 day
Glucagon growth hormone stimulation test
1 day

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
1 day
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.
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Stephanie C Hsu, MD, University of Colorado, Denver

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 15, 2015

Primary Completion (Actual)

March 30, 2016

Study Completion (Actual)

May 31, 2018

Study Registration Dates

First Submitted

June 2, 2015

First Submitted That Met QC Criteria

June 3, 2015

First Posted (Estimate)

June 4, 2015

Study Record Updates

Last Update Posted (Actual)

June 18, 2018

Last Update Submitted That Met QC Criteria

June 14, 2018

Last Verified

June 1, 2018

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Focal Dermal Hypoplasia

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