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Ectodermal Dysplasia clinical trials

View clinical trials related to Ectodermal Dysplasia.

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NCT ID: NCT06330350 Recruiting - Quality of Life Clinical Trials

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Start date: January 1, 2024
Phase:
Study type: Observational

The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.

NCT ID: NCT06330324 Enrolling by invitation - Clinical trials for Epidermolysis Bullosa

Reproductive Options in Inherited Skin Diseases

REPRO-ISD
Start date: January 1, 2024
Phase:
Study type: Observational

The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of these reproductive options. By providing a complete overview, the investigators aim to improve reproductive counselling for these patients/couples with a desire to have children. To achieve this, the investigators aim to retrospectively collect data from a cohort of patiens/couples affected by an inherited skin disease on a national level (in the Netherlands) and also an international level from various countries in Europe.

NCT ID: NCT05954416 Recruiting - Clinical trials for Neurofibromatosis Type 1

FARD (RaDiCo Cohort) (RaDiCo-FARD)

FARD
Start date: March 7, 2018
Phase:
Study type: Observational

The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and/or families. Two types of indicators will be used to reach this objective : 1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and/or their family themselves in self-assessment. 2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.

NCT ID: NCT05378932 Completed - Clinical trials for Hypohidrotic Ectodermal Dysplasia

Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia

DEH-Somno
Start date: June 10, 2022
Phase: N/A
Study type: Interventional

The aim of the study is to compare sleep efficiency by means of actigraphy in patients with hypohidrotic ectodermal dysplasia with healthy controls. Sleep efficiency, assessed on actigraphy, sleep architecture assessed on on polysomnography, body temperature and urine melatonin levels will be compared between the patients with hypohidrotic ectodermal dysplasia with healthy controls.

NCT ID: NCT04980638 Recruiting - Clinical trials for X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia

EDELIFE
Start date: April 26, 2022
Phase: Phase 2
Study type: Interventional

This is an open-label, prospective, genotype-match controlled for primary estimand, non randomized, multicenter, international Phase 2 clinical trial designed to investigate the efficacy and safety of ER004 administered intraamniotically as a treatment for unborn XLHED male subjects.

NCT ID: NCT04741412 Completed - Clinical trials for Hypohidrotic Ectodermal Dysplasia

Pediatric SARS-CoV-2 Infections: Course of COVID-19, Immune Responses, Complications and Long-term Consequences

PEDCOVID-19
Start date: June 3, 2020
Phase:
Study type: Observational [Patient Registry]

Longitudinal study of 56 households with at least one member who had COVID-19 to compare the course of illness, immune responses, and long-term consequences of SARS-CoV-2 infection in HED patients with those of control subjects of the same age group. Complete households are investigated, including women who are pregnant when exposed to the virus and their newborn child(ren).

NCT ID: NCT03912792 Withdrawn - XLHED Clinical Trials

A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

Start date: June 28, 2019
Phase:
Study type: Observational

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.

NCT ID: NCT02896387 Terminated - Clinical trials for Ectodermal Dysplasia

Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63

PRIMAculture
Start date: March 3, 2017
Phase:
Study type: Observational

Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate (EEC) and Ankyloblepharon, Ectodermal dysplasia, cleft lip and palate (AEC). Apart from symptomatic treatment, no cure is available. To understand the molecular defects associated with this disease and to identify therapeutic tools, a research team modelized the disease by reprograming EEC and AEC patient fibroblasts in pluripotent stem cells (iPSC), then induced iPSC differentiation in patients and controls epidermal (skin) and limbic (cornea) cells and demonstrated that the mutated cells can reproduce in vitro the abnormalities observed in patients. P63 gene belongs to the family of p53 gene. The functions of the two proteins are very similar. Data suggest that molecule Prima could reactivate the p63 protein mutated in patients and thus alleviate skin defect healing and limbic regeneration.

NCT ID: NCT02099552 Completed - Clinical trials for X-Linked Hypohidrotic Ectodermal Dysplasia

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

ECP-015
Start date: April 2014
Phase: N/A
Study type: Observational

The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug. The study protocol will include collection of all relevant medical history and documentation of clinical outcomes using age-appropriate, minimally invasive technologies. Data will be collected both retrospectively, back to pregnancy assessments that may be available, and prospectively through age 5 yrs.

NCT ID: NCT01992289 Active, not recruiting - Clinical trials for X-linked Hypohidrotic Ectodermal Dysplasia

Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002

ECP-002e
Start date: March 2014
Phase: N/A
Study type: Observational

The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned. The efficacy evaluations will incorporate growth and development parameters, frequency of infections and hospitalizations, and age-appropriate assessments of ectoderm-derived organ function. The safety evaluations will include physical examinations, adverse events and concomitant medication documentation, and laboratory testing. Funding Source - FDA OOPD