Clinical trials: Ectodermal Dysplasia
Punctate Palmoplantar Keratoderma Type 1, Pachyonychia Congenita
Assessment of KM-001 - Safety, Tolerability, and Efficacy in Patients With PPPK1 or PC
This Phase 1b, open-label, single-center, prospective trial will be assessing the safety, tolerability, and efficacy of topical KM-001 1% in patients with PPPK1 or PC diseases. In this study 2 cohorts will be recruited: 1.
- Trial name
- NCT05956314
- Testing
- KM-001 cream 1% 12 weeks treatment., Physical Examination, Vital Signs
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- Orvida Pharma (formerly Kamari Pharma)
X-Linked Hypohidrotic Ectodermal Dysplasia
Sweat Duct Imaging in Mother/Newborn Dyads
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.
- Trial name
- NCT01342133
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1)
Precision Medicine for Neurocutaneous Syndromes in Western China
The goal of this observational study (retrospective multicenter cohort study) is to learn if precision medicine approaches-including genetic testing, targeted drugs, and coordinated care from multiple specialists-can improve…
- Conditions
- Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome (SWS)
- Trial name
- NCT07327164
- Where
- China
- Volunteers
- 1,200 people
- Sponsor
- West China Hospital
X-linked Hypohidrotic Ectodermal Dysplasia
A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200
Following discussions with the FDA, a Phase 1 safety study is being initiated in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)-affected adults to develop safety and exposure data for EDI200 in anticipation of dosing…
- Trial name
- NCT01564225
- Testing
- EDI200
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Edimer Pharmaceuticals
Maxillary Sinusitis
Study to Measure the Impact of Antibiotics on Bacterial Flora in Adults With Acute Sinusitis
The purpose of this study is to measure the speed of microbial eradication due to azithromycin or telithromycin in acute maxillary sinusitis (AMS).
- Trial name
- NCT00245440
- Testing
- Azithromycin, Telithromycin
- Where
- United States
- Volunteers
- 192 people
- Sponsor
- CPL Associates
Hypohidrotic Ectodermal Dysplasia
Pediatric SARS-CoV-2 Infections: Course of COVID-19, Immune Responses, Complications and Long-term Consequences
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…
- Trial name
- PEDCOVID-19 (NCT04741412)
- Where
- Germany
- Volunteers
- 231 people
- Sponsor
- University Hospital Erlangen
Pachyonychia Congenita
Study of TD101, a Small Interfering RNA (siRNA) Designed for Treatment of Pachyonychia Congenita
Pachyonychia congenita (PC) is a rare, autosomal dominant keratin disorder affecting the nails, skin, oral mucosae, larynx, hair and teeth.
- Trial name
- NCT00716014
- Testing
- TD101
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Pachyonychia Congenita Project
X-Linked Hypohidrotic Ectodermal Dysplasia, Exercise-induced Rise of Body Temperature
Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia
Because of their lack of sweat glands individuals with hypohidrotic ectodermal dysplasia (HED) are at particular risk of life-threatening hyperthermia during exercise in a warm environment.
- Trial name
- NCT01135888
- Testing
- Skin cooling devices
- Where
- Germany
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University Hospital Erlangen
XLHED
A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED
The proposed natural history study will enroll male patients with a diagnosis of XLHED, female carriers of XLHED and healthy volunteers.
- Trial name
- NCT03912792
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Dermelix Biotherapeutics, LLC.
Pachyonychia Congenita
A Multicenter, Phase 3 Randomized, Double-Blind, Vehicle-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Pachyonychia Congenita
This study evaluates the safety and efficacy of QTORIN 3.9% rapamycin anhydrous gel in the treatment of adults with Pachyonychia Congenita. This study includes a screening period, baseline period and 6-month treatment period.
- Trial name
- VAPAUS (NCT05180708)
- Testing
- QTORIN 3.9% rapamycin anhydrous gel, Vehicle
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 87 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
Focal Dermal Hypoplasia
Growth Arrest in Focal Dermal Hypoplasia
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities.
- Trial name
- NCT02463656
- Volunteers
- 16 people
- Sponsor
- University of Colorado, Denver
Patient Satisfaction, Retention
Comparison Between Acrylic and Soft Liner Telescopic Overdentures Regarding Patient Satisfaction
Conventional complete overdenture will be made to ectodermal dysplasia patients, a week after delivery and after 3 months Patient satisfaction, retention and periodontal condition will be assessed.
- Conditions
- Patient Satisfaction, Retention, Periodontal Health
- Trial name
- NCT03127033
- Testing
- Soft liner telescopes
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Cairo University
Pachyonychia Congenita
Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in Treatment of Adults With Pachyonychia Congenita
This study evaluates the safety and efficacy of PTX-022, topical rapamycin, in the treatment of adults with moderate to severe Pachyonychia Congenita.
- Trial name
- NCT03920228
- Testing
- PTX-022
- Where
- 9 sites in United States
- Volunteers
- 73 people
- Sponsor
- Palvella Therapeutics, Inc.
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
Idiopathic Pulmonary Fibrosis
Assess the Safety, Tolerability and Pharmacokinetics of AZD5055 Following Single and Multiple Ascending Doses in Healthy Participants
This is a phase I, First-in-Human study in healthy participants, performed at a single study center, consisting of 2 parts: Part 1 is a single ascending dose (SAD) study and Part 2 is a multiple ascending dose (MAD) study.
- Trial name
- NCT05134727
- Testing
- AZD5055
- Where
- United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- AstraZeneca
Rheumatoid Arthritis, Ankylosing Spondylitis
PatientSpot Formerly Known as ArthritisPower
Patient Power is a patient research network and database (registry) to collect prospective information about demographics, self-reported diagnoses and medications, and willingness to participate in research from participants with…
- Conditions
- Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia, Gout
- Trial name
- NCT03840928
- Where
- United States
- Volunteers
- 40,000 people, healthy volunteers welcome
- Sponsor
- Global Healthy Living Foundation