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Active clinical trials for "Ectodermal Dysplasia"

Results 21-26 of 26

Sweat Duct Imaging in Mother/Newborn Dyads

X-Linked Hypohidrotic Ectodermal Dysplasia

The purpose of this study is to evaluate sweat duct number on the plantar surface of newborn infants using a non-invasive confocal microscopy device.

Completed4 enrollment criteria

Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation

Hypohidrotic Ectodermal Dysplasia

This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and in a subset of subjects to collect clipped scalp hair samples for RNA analysis. This study is descriptive in nature and is intended to assess the ability to use innovative approaches to generate data from subjects over a wide age spectrum, with particular emphasis on phenotype variability between male siblings (same mutation).

Completed14 enrollment criteria

Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia:...

X-linked Hypohidrotic Ectodermal DysplasiaHypohidrotic Ectodermal Dysplasia

The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED). FDNA (www.fdna.com), a software company with expertise in the area of facial recognition, is collaborating with the Sponsor in algorithm development based on 2D photographs not requiring special photographic technologies. A frontal facial photograph will be taken at the time of study conduct. The anonymized photographs will be transmitted to FDNA for analysis. A limited number of unaffected controls will be also be recruited. A subset of affected males between ages 5 and 25 years will have the option of having a blood draw for a set of laboratory studies assessing nutritional status.

Completed11 enrollment criteria

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal...

Hypohidrotic Ectodermal Dysplasia

The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities. Several evaluations will be conducted in this study: 1) the number of skin sweat glands you have and their ability to produce sweat; 2) your ability to grow hair; 3) the structure of your face compared to faces of people affected by HED; 4) molds of your teeth to see if and how they are different than people affected by HED.

Completed7 enrollment criteria

Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects

Ectodermal DysplasiaJaw1 more

The amendment to Clinical Protocol 86-D-0015, clinical study of Oral Endosseous Titanium Implants in Edentulous subjects, and patients with Ectodermal Dysplasia is to allow the Investigators to determine: (1) If placement of Endosseous Titanium Implants in pre-adolescent patients (age 7 to 10) will influence the growth and development of the craniomandibular complex. (2) The final position of the implant, the ability to fabricate prosthesis. (3) Body image, diet and perceived ease of chewing selected foods. Selection of patients for participation in the study will be based on the number of congenitally missing teeth associated with Ectodermal Dysplasia. At least 16 permanent teeth must be congenitally missing. A total of 30 patients will be included. A consent to participate in this study will be obtained from each patient: 18 & older - consent signed by patient 13-17 years - consent signed by parent, assent signed by patient 7-10 years - consent by parent, assent signed by child if capable of understanding or note on chart describing procedure used to obtain the child's assent to the study

Completed1 enrollment criteria

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic...

XLHED

The proposed natural history study will enroll male patients with a diagnosis of XLHED, female carriers of XLHED and healthy volunteers. The study protocol will include collection of XLHED questionnaires and clinical outcomes using minimally invasive technologies. Data will be collected both retrospectively and prospectively. Clinical outcome assessments will be performed at the NFED Family Conference on July 11-12, 2019. Study participants will be able to complete XLHED questionnaires electronically ahead of the conference.

Withdrawn6 enrollment criteria

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