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Trial record 27 of 31 for:    "ankyloblepharon-ectodermal defects-cleft lip palate syndrome" OR "Ectodermal Dysplasias"

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

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.

Condition or disease
Focal Dermal Hypoplasia

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
Actual Enrollment : 16 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Growth Arrest in Focal Dermal Hypoplasia
Actual Study Start Date : July 15, 2015
Actual Primary Completion Date : March 30, 2016
Actual Study Completion Date : May 31, 2018





Primary Outcome Measures :
  1. Determination of Growth Hormone Deficiency [ Time Frame: 1 day ]
    Glucagon growth hormone stimulation test


Secondary Outcome Measures :
  1. 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.

  2. 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.



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Ages Eligible for Study:   3 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children with focal dermal hypoplasia
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02463656


Sponsors and Collaborators
University of Colorado, Denver
Investigators
Principal Investigator: Stephanie C Hsu, MD University of Colorado, Denver

Responsible Party: University of Colorado, Denver
ClinicalTrials.gov Identifier: NCT02463656     History of Changes
Other Study ID Numbers: 14-2127
First Posted: June 4, 2015    Key Record Dates
Last Update Posted: June 18, 2018
Last Verified: June 2018

Additional relevant MeSH terms:
Ectodermal Dysplasia
Focal Dermal Hypoplasia
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Skin Diseases, Genetic
Skin Diseases