Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
NCT01109290 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 65
Last updated 2011-09-14
Summary
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result in episodes of severe hyperthermia and cause sudden infant death. To assess sweat gland function in HED patients, the investigators will first quantify gland pores in a defined area of the palm and then stimulate the glands by pilocarpine followed by sweat collection in a special capillary for volume determination. This will be combined with non-invasive skin conductance measurement prior and subsequent to stimulation of the sympathetic nervous system. The data should provide a basis for genotype-phenotype correlation.
Conditions
- Hypohidrotic Ectodermal Dysplasia
Sponsors & Collaborators
-
Edimer Pharmaceuticals
collaborator INDUSTRY -
University Hospital Erlangen
lead OTHER
Principal Investigators
-
Holm Schneider, MD · University Hospital Erlangen
Eligibility
- Max Age
- 60 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2010-04-30
- Primary Completion
- 2010-08-31
- Completion
- 2011-06-30
Countries
- Germany
Study Locations
More Related Trials
-
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
NCT01629940 ·Status: COMPLETED
-
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
NCT01386775 ·Status: COMPLETED
-
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
NCT02099552 ·Status: COMPLETED
-
A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED
NCT03912792 ·Status: WITHDRAWN
-
Phenotypic Properties in Individuals Affected With XLHED
NCT01871714 ·Status: COMPLETED
-
Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia
NCT01135888 ·Status: COMPLETED
-
A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200
NCT01564225 ·Status: COMPLETED ·Phase: PHASE1
-
Sweat Duct Imaging in Mother/Newborn Dyads
NCT01342133 ·Status: COMPLETED
-
Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
NCT05378932 ·Status: COMPLETED ·Phase: NA
-
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
NCT07096206 ·Status: ACTIVE_NOT_RECRUITING
-
Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
NCT01992289 ·Status: UNKNOWN
-
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey
NCT01398813 ·Status: COMPLETED
-
Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
NCT01775462 ·Status: COMPLETED ·Phase: PHASE2
-
Thoracoscopic Sympathetic Chain Interruption for Palmar Hyperhidrosis in Patients Below 18
NCT06113978 ·Status: COMPLETED ·Phase: NA
-
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
NCT04980638 ·Status: RECRUITING ·Phase: PHASE2
-
Predicting Peanut Anaphylaxis and Reducing Epinephrine
NCT05696236 ·Status: COMPLETED ·Phase: NA
-
An Open Label Study for Palmar Hyperhydrosis
NCT04906655 ·Status: COMPLETED ·Phase: PHASE2
-
Thyroid Hormones in Critically Ill Children
NCT00664079 ·Status: TERMINATED
-
Early Diagnosis Of Childhood Cerebral ALD
NCT02948062 ·Status: WITHDRAWN
-
Assessing the Effect of Patient Characteristics on Treatment Response in Primary Hyperhidrosis
NCT03694093 ·Status: COMPLETED
-
Study of Adrenal Gland Tumors
NCT00005927 ·Status: COMPLETED
-
Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
NCT01196182 ·Status: ACTIVE_NOT_RECRUITING
-
Study of Skeletal Disorders
NCT05031507 ·Status: RECRUITING
-
Extreme Morphology and Metabolic Health
NCT05991609 ·Status: ACTIVE_NOT_RECRUITING
-
Clinical Biomarkers in Alpha-mannosidosis
NCT02141503 ·Status: COMPLETED