Skip to main content
OpenTrials
Completed

NCT Number: NCT02463656

Growth Arrest in Focal Dermal Hypoplasia

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Focal Dermal Hypoplasia Abnormalities, Multiple Bone Diseases Bone Diseases, Developmental Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dysostoses Ectodermal Dysplasia Genetic Diseases, Inborn Genetic Diseases, X-Linked Musculoskeletal Diseases Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

3 year–18 year

Sex eligibility

All sexes

Study type

Observational

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Determination of Growth Hormone Deficiency

    Time frame: 1 day

    Glucagon growth hormone stimulation test

Secondary outcomes

  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.

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Registry information

Important dates

Study start
2015
Primary completion
2016
Study completion
2018
First posted
Jun 4, 2015
Registry last updated
Jun 18, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.