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Growth Arrest in Focal Dermal Hypoplasia

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ClinicalTrials.gov Identifier: NCT02463656
Recruitment Status : Completed
First Posted : June 4, 2015
Last Update Posted : June 18, 2018
Sponsor:
Information provided by (Responsible Party):
University of Colorado, Denver

Tracking Information
First Submitted Date June 2, 2015
First Posted Date June 4, 2015
Last Update Posted Date June 18, 2018
Actual Study Start Date July 15, 2015
Actual Primary Completion Date March 30, 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 25, 2016)
Determination of Growth Hormone Deficiency [ Time Frame: 1 day ]
Glucagon growth hormone stimulation test
Original Primary Outcome Measures
 (submitted: June 3, 2015)
Growth hormone stimulation test [ Time Frame: 1 day ]
Glucagon growth hormone stimulation test
Change History Complete list of historical versions of study NCT02463656 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: May 25, 2016)
  • 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.
  • 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.
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Growth Arrest in Focal Dermal Hypoplasia
Official Title Growth Arrest in Focal Dermal Hypoplasia
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.
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Children with focal dermal hypoplasia
Condition Focal Dermal Hypoplasia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: May 25, 2016)
16
Original Estimated Enrollment
 (submitted: June 3, 2015)
20
Actual Study Completion Date May 31, 2018
Actual Primary Completion Date March 30, 2016   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages 3 Years to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT02463656
Other Study ID Numbers 14-2127
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University of Colorado, Denver
Study Sponsor University of Colorado, Denver
Collaborators Not Provided
Investigators
Principal Investigator: Stephanie C Hsu, MD University of Colorado, Denver
PRS Account University of Colorado, Denver
Verification Date June 2018