Clinical trials: Ectodermal Dysplasia, open to volunteers
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Pachyonychia Congenita
Safety, Tolerability, and Efficacy of Oral KM-023 in Adult Patients With Pachyonychia Congenita (pEDD-PC)
The goal of this clinical trial is to learn if KM-023 is safe and well tolerated in adults with Pachyonychia Congenita (PC). The study will also explore whether KM-023 may help reduce pain, improve mobility, and lessen the impact…
- Trial name
- NCT07893483
- Testing
- KM-023
- Where
- 2 sites in Israel
- Volunteers
- 10 people
- Sponsor
- Orvida Pharma (formerly Kamari Pharma)
Blepharocheilodontic Syndrome
CDH1-associated Blepharocheilodontic Syndrome Registry
The aim of the CDH1-associated Blepharocheilodontic Syndrome (BCDS) registry is to better characterize the clinical features of this condition and exploring whether CDH1 variants linked to BCDS may also increase cancer risk.
- Trial name
- NCT07133464
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Ohio State University
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
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
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
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
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.
Rare Diseases, Amyloidosis
Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).
- Conditions
- Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis
- Trial name
- NCT06573723
- Where
- Argentina
- Volunteers
- 380 people
- Sponsor
- Hospital Italiano de Buenos Aires
Sturge-Weber Syndrome, Neurocutaneous Syndromes
Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
- Conditions
- Sturge-Weber Syndrome, Neurocutaneous Syndromes, Neurofibromatoses, Tuberous Sclerosis
- Trial name
- NCT07843823
- Volunteers
- 100 people
- Sponsor
- Assiut University
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
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…
- Trial name
- EDELIFE (NCT04980638)
- Testing
- ER004
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 20 people
- Sponsor
- EspeRare Foundation