- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02463656
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
Conditions
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.
Sponsor
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
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 14-2127
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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Baylor College of MedicineActive, not recruitingFocal Dermal Hypoplasia (FDH) | Goltz SyndromeUnited States
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AllerganCompletedDermal NoduleUnited States
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University of ViennaMedical University of ViennaCompletedSkin Physiology | Dermal Administration | EmulsionsAustria
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Church & Dwight Company, Inc.CompletedDermal IrritationUnited States
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Asan Medical CenterCompletedDermal FillersKorea, Republic of
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Steve Yoelin M.D. Medical Associates, Inc.Completed
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Joanneum Research Forschungsgesellschaft mbHCompletedDermal Pharmacokinetic Measurements | Dermatology/Skin - OtherAustria
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Chattem, Inc.CompletedTolerability | Adhesiveness | Dermal Irritation | Effects of HeatUnited States
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Joanneum Research Forschungsgesellschaft mbHCompletedHealthy | Dermal Pharmacokinetic MeasurementsAustria
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Joanneum Research Forschungsgesellschaft mbHCompleted