Clinical trials: Ichthyosis
Ichthyosis
Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)
Presence/absence of subclinical keratoconus with corneal topographic abnormalities (skewed radial axes for forme fruste keratoconus, and inferior steepening for keratoconus suspect) on axial specular topography (TMS-4 Tomey), and…
- Trial name
- NCT03464994
- Testing
- ophthalmological examination
- Where
- France
- Volunteers
- 152 people
- Sponsor
- University Hospital, Toulouse
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Ichthyosis Vulgaris
A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris
The objective of this study is to determine and compare the safety and efficacy of topical 146-9251 cream and vehicle cream applied twice daily for 6 weeks in subjects with moderate to severe ichthyosis vulgaris (IV).
- Trial name
- NCT03173547
- Testing
- 146-9251 cream, Vehicle cream
- Where
- 7 sites in United States
- Volunteers
- 80 people
- Sponsor
- Crown Laboratories, Inc.
Irritable Bowel Syndrome
Clinical Effectiveness of Exposure Based Cognitive Behavioral Group Therapy for IBS
The aim of the study is to evaluate the effects of a specific Cognitive Behavioral treatment protocol for patients with IBS used in routine care at a gastroenterology unit in Stockholm.
- Trial name
- NCT04756414
- Testing
- Exposure based face-to-face Cognitive Behavior Group Therapy
- Volunteers
- 143 people
- Sponsor
- Karolinska Institutet
Ichthyosis
Therapeutic Education Using an Internet Application in Hereditary Ichthyosis
The main purpose is to evaluate the feasibility (global use) of a therapeutic patient education program using a specific web application in patients with hereditary ichthyosis.
- Trial name
- e-ETPichtyose (NCT03641261)
- Testing
- Therapeutic patient education program
- Where
- France
- Volunteers
- 42 people
- Sponsor
- University Hospital, Toulouse
Congenital Ichthyosis
A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis
Congenital ichthyosis (CI) is a large, heterogeneous family of inherited skin disorders of cornification resulting from an abnormality of skin keratinization, such as scaling and thickening of the skin.
- Trial name
- NCT02864082
- Testing
- PAT-001, 0.1%, PAT-001, 0.2%, Vehicle for PAT-001 0.1%
- Where
- 5 sites in United States
- Volunteers
- 19 people
- Sponsor
- Patagonia Pharmaceuticals, LLC
Netherton Syndrome
Study of Skin and Gut Microbiome in a Skin Condition Involving Skin Barrier Impairment and Allergic Symptoms: Netherton Syndrome
It is proposed to conduct an exploratory study to analyze the skin, intestinal, and salivary microbiome, as well as the skin mycobiome and virome, of patients (adolescents and young adults) with Netherton syndrome, a condition…
- Trial name
- DERMABIOTE (NCT07280091)
- Testing
- Superficial skin swabs, Stool samples, Saliva samples
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Netherton Syndrome
Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome
Netherton syndrome is a genetic condition that can result in abnormal skin functioning. People with this condition often have red and scaling skin; sparse or short hair; and problems with absorption of medicines or chemicals that…
- Trial name
- NCT00208026
- Testing
- Pimecrolimus 1% Cream
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Children's Hospital of Philadelphia
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
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
Ichthyosis Inherited
Evaluate the Evolution of Body and Scalp Skin Discomfort in Patients With Hereditary Ichthyosis After Wraps (EnvelopIchtyose)
Ichthyosis is a group of rare and chronic genetic diseases beginning at birth, in which the patient's skin is covered with scales of variable appearance and severity. This disease is disabling.
- Trial name
- NCT05979506
- Testing
- Cutaneous wraps
- Where
- France
- Volunteers
- 34 people
- Sponsor
- University Hospital, Toulouse
Netherton Syndrome
Clinical Trial Using Humira in Netherton Syndrome
The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment…
- Trial name
- AntiTNF-SN (NCT02113904)
- Testing
- Adalimumab
- Where
- France
- Volunteers
- 11 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Constipation - Functional, Abdominal Pain (AP)
Co-Development and Validation of Colonic Symptom Pictograms for Young People
Severe constipation affects 10% of children, often leading to significant physical and emotional distress. While constipation is commonly associated with impaired bowel movements, it is fundamentally linked to abnormalities in…
- Conditions
- Constipation - Functional, Abdominal Pain (AP), Nausea and Vomitting, Bloating
- Trial name
- NCT07337343
- Testing
- Pictogram comprehension and validation
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Auckland, New Zealand
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
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome
To assess the safety, tolerability, and efficacy of QRX003 lotion (4%) when added to standard of care treatment regimen, including systemic therapy in subjects with Netherton syndrome
- Trial name
- NCT05789056
- Testing
- QRX003, 4% Lotion
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Quoin Pharmaceuticals
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
- 76 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Atopic Dermatitis, Ichthyosis
Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments
This is designated to validate patient-reported outcomes (PRO) measures in itch-specific pediatric skin conditions, such as atopic dermatitis, and examine the ability of a modified stigma instrument to assess the severity and…
- Conditions
- Atopic Dermatitis, Ichthyosis, Psoriasis
- Trial name
- NCT03051347
- Testing
- Itch Questionnaire and Interview, Stigma Questionnaire and Interview, Cognitive Interview and PROMIS Itch Questionnaire
- Where
- United States
- Volunteers
- 943 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
Syndromic Ichthyoses, CHILD Syndrome
Novel Treatment for Syndromic Ichthyoses
This is an open label-pilot study to assess the efficacy and safety of a novel cholesterol-lovastatin topical solution in children with rare syndromic ichthyoses.
- Conditions
- Syndromic Ichthyoses, CHILD Syndrome, Smith Lemli Opitz Syndrome, Conradi Syndrome
- Trial name
- NCT01110642
- Testing
- Lovastatin
- Sponsor
- Northwestern University