Clinical trials: Congenital Ichthyosis
Autosomal Recessive Ichthyosis
Topical KB105 for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI)
KB105-02 is an intrasubject randomized, placebo-controlled, double-blind study to evaluate the safety and efficacy of KB105 in children and adults with autosomal recessive congenital ichthyosis (ARCI).
- Trial name
- NCT05735158
- Testing
- KB105
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Krystal Biotech, Inc.
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
Netherton Syndrome
Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
The goal of this clinical trial (via an expanded access Treatment Protocol) is to learn if QRX003 (an investigational drug) applied topically to the skin (including up to the entire body [except the scalp]) works to treat the…
- Trial name
- NCT06953466
- Testing
- QRX003, 4% Lotion
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Quoin Pharmaceuticals
Ichthyosis
A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis
This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.
- Trial name
- NCT02655861
- Testing
- Observation
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Yale University
Netherton Syndrome
Safety, Tolerability and Efficacy of QRX003 Lotion in Subjects With Netherton Syndrome
This study has been designed to determine the safety, tolerability and efficacy of QRX003 lotion 2%, 4% QAM or 4% BID in subjects with Netherton Syndrome (NS) in comparison to vehicle
- Trial name
- NCT05521438
- Testing
- QRX003-2% Lotion, QRX003-4% Lotion QAM, Vehicle
- Where
- 5 sites in United States
- Volunteers
- 30 people
- Sponsor
- Quoin Pharmaceuticals
Constipation-predominant Irritable Bowel Syndrome
Cheno Effect on Transit in Health and IBS-C
The study hypothesis is that the naturally occurring bile acid, chenodeoxycholic acid, induces acceleration of colonic transit in health and in patients with constipation-predominant Irritable Bowel Syndrome (IBS-C).
- Trial name
- Chenotransit (NCT00912301)
- Testing
- Sodium chenodeoxycholate (NaCDC)
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Healthy Volunteer, Sjogren's Syndrome
Characterization of Diseases With Salivary Gland Involvement
Background: Salivary glands in and around the mouth and throat make saliva. Salivary gland disorders can affect a person s quality of life.
- Conditions
- Healthy Volunteer, Sjogren's Syndrome, Salivary Gland Disease
- Trial name
- NCT02327884
- Where
- United States
- Volunteers
- 1,150 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Netherton Syndrome
Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome
This is a multicenter, open-label study to evaluate the safety, tolerability, and efficacy of 4% QRX003 lotion applied twice daily (BID) for 12 weeks to Netherton syndrome (NS) diseased skin in all affected areas of the body…
- Trial name
- NCT07538583
- Testing
- QRX003
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Quoin Pharmaceuticals
IBS, Diarrhea Predominant
Transcutaneous Electrical Acustimulation for IBS-D: A Multicenter Study
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by recurrent abdominal pain and altered bowel habits.
- Trial name
- NCT07425145
- Testing
- Portable stimulator
- Where
- China
- Volunteers
- 200 people
- Sponsor
- First People's Hospital of Foshan
Type 1 Diabetes
Tauroursodeoxycholic Acid (TUDCA) in New-Onset Type 1 Diabetes
Clinically, the ability to slow or prevent beta cell demise can prevent or improve the course of type 1 diabetes. The immune-mediated destruction of beta cells that is an apparent major pathological basis for the disease, has led…
- Trial name
- NCT02218619
- Testing
- Tauroursodeoxycholic Acid (TUDCA)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Robin Goland, MD
Liposarcoma, Leiomyosarcoma
Efficacy Study on Trabectedin in Retroperitoneal Leiomyosarcoma and Well Differentiated/Dedifferentiated Liposarcoma
This is an Italian, multicentre, single arm, phase II study, with an intra-patient comparison end point. This study aims at confirming the activity of the drug trabectedin as second/further line treatment in retroperitoneal…
- Trial name
- TRAVELL (NCT02247544)
- Testing
- Trabectedin
- Where
- 21 sites in Italy
- Volunteers
- 105 people
- Sponsor
- Italian Sarcoma Group
Lamellar Ichthyosis
A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis
This is a phase 2 randomized, multi-center, double-blind, vehicle controlled, 90 day, safety, efficacy, and systemic exposure study followed by a 90 day open-label extension of trifarotene cream in adults and adolescents with…
- Trial name
- NCT03738800
- Testing
- CD5789 Cream 200 µg/g, CD5789 Cream 100 µg/g, CD5789 Cream Vehicle
- Where
- 36 sites in United States, Australia and 7 more
- Volunteers
- 65 people
- Sponsor
- Mayne Pharma International Pty Ltd
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Congenital Ichthyosis
Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children
This is an experimental non-randomized clinical study aimed at expanding the indications for the use of biological drugs with the aim of using them for the pathogenetic therapy of children with congenital ichthyosis.
- Trial name
- NCT04996485
- Testing
- Secukinumab Injection, Ustekinumab Injection, Dupilumab Injection
- Where
- Russia
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- National Medical Research Center for Children's Health, Russian Federation
Ichthyosis
The ASCEND Study: Evaluating TMB-001 in the Treatment of RXLI or ARCI Ichthyosis
This is a randomized, double-blind and vehicle-controlled Phase III study to evaluate the safety and efficacy of topical TMB-001 0.05% ointment for the treatment of congenital ichthyosis (CI) in subjects with either the RXLI or…
- Trial name
- ASCEND (NCT05295732)
- Testing
- TMB-001, Matching Vehicle
- Where
- 35 sites in United States, Canada and 3 more
- Volunteers
- 153 people
- Sponsor
- LEO Pharma
Netherton Syndrome
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725
This is a first-in-human, Phase 1/1b, 4-part study that includes the evaluation of safety, tolerability, pharmacokinetics (PK), and immunogenicity of BCX17725 when administered via single and multiple doses in healthy adult…
- Trial name
- NCT06539507
- Testing
- BCX17725
- Where
- 12 sites in United States, Australia and 3 more
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals
Cutis Laxa Facialis, Xeroderma
Trial Assessing the Impact on Facial Skin Quality, Hydration, and Skin Barrier of Three (3) Hydrafacial Treatments in Adults of All Skin Types.
This is a phase IV, unblinded, open-label study assessing the impact on skin quality, hydration, and barrier of three (3) Hydrafacial treatments in healthy adults of Fitzpatrick Skin Types I \& II, III, IV, V \& VI, 30 to 55…
- Trial name
- NCT05932732
- Testing
- HydraFacial Syndeo System, ReGen-GF, HydraFacial Elite MD System
- Where
- 2 sites in United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Austin Institute for Clinical Research
Lysosomal Storage Disease, Cholesterol Metabolism
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol.
- Trial name
- NCT00046202
- Where
- United States
- Volunteers
- 344 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Ichthyosis, Lamellar
Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis
Lamellar ichthyosis is a congenital disease of the skin with a generalized scaling. The primary activity of liarozole is considered to be the inhibition of the degradation of a substance called retinoic acid, which is the…
- Trial name
- NCT00282724
- Testing
- Liarozole
- Where
- 16 sites in Belgium, Canada and 7 more
- Volunteers
- 98 people
- Sponsor
- Stiefel, a GSK Company
Netherton Syndrome
A Study to Assess the Safety and Pharmacokinetics of Single Ascending Subcutaneous and Intravenous Doses of DS-2325a in Healthy Subjects
Netherton syndrome (NS) is a rare autosomal recessive disease and no systemic treatment or standard of care currently exists for patients with NS.
- Trial name
- NCT05388903
- Testing
- DS-2325a
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Daiichi Sankyo