Ignite Creation Date:
2025-12-24 @ 11:29 PM
Ignite Modification Date:
2026-03-09 @ 10:44 PM
Study NCT ID:
NCT02463656
Status:
COMPLETED
Last Update Posted:
2018-06-18
First Post:
2015-06-02
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Growth Arrest in Focal Dermal Hypoplasia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D005489', 'term': 'Focal Dermal Hypoplasia'}], 'ancestors': [{'id': 'D004413', 'term': 'Dysostoses'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D004476', 'term': 'Ectodermal Dysplasia'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012868', 'term': 'Skin Abnormalities'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 16}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-07-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-06', 'completionDateStruct': {'date': '2018-05-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-06-14', 'studyFirstSubmitDate': '2015-06-02', 'studyFirstSubmitQcDate': '2015-06-03', 'lastUpdatePostDateStruct': {'date': '2018-06-18', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2015-06-04', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-03-30', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Determination of Growth Hormone Deficiency', 'timeFrame': '1 day', 'description': 'Glucagon growth hormone stimulation test'}], 'secondaryOutcomes': [{'measure': 'Determination of poor growth', 'timeFrame': '1 day', 'description': 'Bone age x-rays will be read independently and compared to the accepted standards and quantified as a standard deviation from chronological age.'}, {'measure': 'Determination of poor weight gain', 'timeFrame': '1 day', 'description': 'Evaluation of IGF-1 levels which are frequently low in children who are underweight or poorly nourished.'}]}, 'conditionsModule': {'conditions': ['Focal Dermal Hypoplasia']}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '3 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Children with focal dermal hypoplasia', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* patients with focal dermal hypoplasia\n* between the ages of 3 and 18 years\n* ability to fast overnight, and\n* weight at least 9 kg\n\nExclusion Criteria:\n\n* pregnant individuals,\n* weight less than 9 kg'}, 'identificationModule': {'nctId': 'NCT02463656', 'briefTitle': 'Growth Arrest in Focal Dermal Hypoplasia', 'organization': {'class': 'OTHER', 'fullName': 'University of Colorado, Denver'}, 'officialTitle': 'Growth Arrest in Focal Dermal Hypoplasia', 'orgStudyIdInfo': {'id': '14-2127'}}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Stephanie C Hsu, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Colorado, Denver'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Colorado, Denver', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}