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Growth Arrest in Focal Dermal Hypoplasia

NCT02463656 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 16

Last updated 2018-06-18

No results posted yet for this study

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.

Conditions

  • Focal Dermal Hypoplasia

Sponsors & Collaborators

  • University of Colorado, Denver

    lead OTHER

Principal Investigators

  • Stephanie C Hsu, MD · University of Colorado, Denver

Eligibility

Min Age
3 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-07-15
Primary Completion
2016-03-30
Completion
2018-05-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02463656 on ClinicalTrials.gov