Clinical trials: Ectodermal Dysplasia
Inherited Epidermolysis Bullosa, Ichthyosis
FARD (RaDiCo Cohort) (RaDiCo-FARD)
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)…
- Conditions
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti
- Trial name
- FARD (NCT05954416)
- Where
- 15 sites in France
- Volunteers
- 900 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hypohidrotic Ectodermal Dysplasia
Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
The aim of the study is to compare sleep efficiency by means of actigraphy in patients with hypohidrotic ectodermal dysplasia with healthy controls.
- Trial name
- DEH-Somno (NCT05378932)
- Testing
- Actigraphy, Recording of proximal and distal skin temperature and temperature of the bedroom, Questionnaires assessing subjective sleep quality
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
This is an observational, multicentre, international study over a 2-year follow-up period. The aim of this study is to understand how XLHED affects the lives of young male patients and their families over time.
- Trial name
- EdeReaLife (NCT07096206)
- Where
- 2 sites in France, Germany
- Volunteers
- 27 people
- Sponsor
- Pierre Fabre Medicament
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
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…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Pachyonychia Congenita
International Pachyonychia Congenita Research Registry
International Pachyonychia Congenita Research Registry (IPCRR) is a patient registry for those suffering from Pachyonychia Congenita (PC).
- Trial name
- IPCRR (NCT02321423)
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Pachyonychia Congenita Project
Hypohidrotic Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities.
- Trial name
- NCT01293565
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Hypohidrotic Ectodermal Dysplasia
Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth.
- Trial name
- NCT01109290
- Where
- Germany
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia
To characterize skin properties in male subjects with HED
- Trial name
- NCT01108770
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Ectodermal Dysplasia
Organization's Unique Protocol ID
Ectodermal dysplasia is a rare inherited condition that affects structures derived from the ectoderm, including teeth, skin, hair, and sweat glands.
- Trial name
- NCT07468019
- Testing
- 3-D printed overdenture, Conventional overdenture
- Where
- Egypt
- Volunteers
- 11 people
- Sponsor
- Cairo University
Punctate Palmoplantar Keratoderma Type 1, Pachyonychia Congenita
Study Designed to Evaluate Safety and Efficacy of 1% Topical Formulation of KM-001 on Type 1 Punctate Palmoplantar Keratoderma or Pachyonychia Congenita Diseases
In this phase 1 open label study for patients with type I punctate palmoplantar keratoderma or pachyonychia congenital, 2 arms will be recruited to be treated twice daily, with 1% topical KM-001.
- Trial name
- NCT05435638
- Testing
- Serum chemistry, Hematology, Urinalysis
- Where
- 3 sites in Israel
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Orvida Pharma (formerly Kamari Pharma)
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
Epidermolytic Ichthyosis, Palmoplantar Keratoderma
Epidermal Growth Factor Receptor Inhibition for Keratinopathies
Epidermal growth factor receptor (EGFR) signaling plays a key role in regulating epidermal cell proliferation, survival, and differentiation.
- Conditions
- Epidermolytic Ichthyosis, Palmoplantar Keratoderma, Pachyonychia Congenita
- Trial name
- NCT06545695
- Testing
- Erlotinib
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Northwestern University
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
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…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Pachyonychia Congenita
A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita
PALV-08 is a multicenter, open-label treatment (OLT) study enrolling adults with Pachyonychia Congenita (PC) with genotyped keratin mutations KRT6A, KRT6B, KRT6C or KRT16 who were previously enrolled in the PALV-05 (VAPAUS)…
- Trial name
- NCT05643872
- Testing
- PTX-022
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Palvella Therapeutics, Inc.
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012)
The study proposes to enroll male subjects affected by Hypohidrotic Ectodermal Dysplasia (XLHED). The sweat duct images will be acquired with a CE marked skin-imaging device and the sweat rate will be measured using a CE marked…
- Trial name
- ECP-012 (NCT01629927)
- Where
- Spain
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Pachyonychia Congenita
Simvastatin Treatment of Pachyonychia Congenita
Simvastatin and related statins, such as compactin, are able to inhibit the constitutive expression of inducible/repressible keratin genes such as K6a and K17.
- Trial name
- NCT01382511
- Testing
- Simvastatine
- Volunteers
- 10 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
X Linked Hypohidrotic Ectodermal Dysplasia
Phenotypic Properties in Individuals Affected With XLHED
The current study design incorporates two previously developed, non-invasive approaches to characterize the phenotype of individuals affected with XLHED.
- Trial name
- ECP-014 (NCT01871714)
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
X-Linked Hypohidrotic Ectodermal Dysplasia
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
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.
- Trial name
- ECP-015 (NCT02099552)
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 150 people
- Sponsor
- Edimer Pharmaceuticals
Hyper-IgM Syndrome, Ectodermal Dysplasia
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients. The specific disorders include: 1.
- Trial name
- NCT00266513
- Where
- United States
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Breast Cancer
Platinum for Triple-Negative Metastatic Breast Cancer and Evaluation of p63/p73 as a Biomarker of Response
The purpose of this research study is to : Determine how effective cisplatin or carboplatin is in slowing the time it takes for ER negative (estrogen-receptor-negative), PR negative (progesterone receptor-negative), HER2 negative…
- Trial name
- NCT00483223
- Testing
- Cisplatin, carboplatin
- Where
- 10 sites in United States
- Volunteers
- 86 people
- Sponsor
- Massachusetts General Hospital