Clinical trials: Congenital Ichthyosis
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
Netherton Syndrome
A Study to Assess the Safety and Pharmacokinetics of Multiple Ascending Subcutaneous 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
- NCT05583669
- Testing
- DS-2325a
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Daiichi Sankyo
CHILD Syndrome
Effects of Alexander Technique in Children With Upper Cross Syndrome.
This randomized clinical trial will involve 50 participants aged 13 to 16, recruited from Faisal Hospital Faisalabad and different schools nearby.
- Trial name
- NCT07248748
- Testing
- Alexander technique, Corrective exercises
- Where
- Pakistan
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Netherton Syndrome, Healthy
Natural History and Biological Study of Netherton Syndrome
This study aims at studying the natural history of Netherton syndrome (NS), to identify the consequences of LEKTI deficiency on the immune system and to characterize new molecular mechanisms involved in the disease.
- Trial name
- NSnatbio (NCT02081313)
- Testing
- Biopsy, Blood sample
- Where
- France
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
- Trial name
- OMICHTYOSE (NCT05312073)
- Testing
- Biological samples, Skin biopsy
- Where
- France
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Atopic Dermatitis (AD), Psoriasis
A Clinical Evaluation of Marula-Derived Ceramide Cream on Skin Barrier Function Enhancement
Previously, the investigators have demonstrated in vitro the excellent efficacy of marula oil-derived ceramide NPs in enhancing skin barrier function.
- Conditions
- Atopic Dermatitis (AD), Psoriasis, Acne Vulgaris, Contact Dermatitis
- Trial name
- NCT07066150
- Testing
- Apply a cream containing 0.05% marula oil-derived ceramide NPs
- Where
- China
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Shanghai Chicmax Cosmetic Co., Ltd.
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 Volunteers, Atopic Dermatitis
A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome
The study is divided in 3 parts, starting with the safety assessment of BPR277 ointment in Healthy volunteers (Part 1). If found to be well tolerated in Part 1, BPR277 ointment will be assessed in two different patients groups to…
- Conditions
- Healthy Volunteers, Atopic Dermatitis, Netherton Syndrome
- Trial name
- 3 (NCT01428297)
- Testing
- BPR277 ointment (controlled application), BPR277 ointment, BPR277
- Where
- 4 sites in United States, Netherlands
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
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
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
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)
IBS, Diarrhea Predominant, IBS, Constipation Predominant
Proposal Evaluating Time-specific Relationships Between Variables of Pain, Stress, and Bloating in IBS Diarrhea and Constipation Symptoms Using a Palm Pilot
Purpose: The associations between pain, stress, bloating, and their short interval temporal relationships to defecation in IBS D, C \& M are of great interest to the field of functional GI disorders, but have not been adequately…
- Conditions
- IBS, Diarrhea Predominant, IBS, Constipation Predominant, IBS, Mixed Symptoms
- Trial name
- NCT00619125
- Testing
- palm pilot recording responses to questionnaires
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
IBS - Irritable Bowel Syndrome
The Prevalence of Irritable Bowel Syndrome Using Rome IV Criteria in Medical Student and The Related Factors
A cross-sectional study of 350 medical student Universitas Indonesia from first grade until fifth grade was done during November-December 2016. This study used stratified randomized sampling.
- Trial name
- IBS (NCT03178877)
- Testing
- No intervention
- Where
- Indonesia
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Genetic Skin Disease, Keratosis Follicularis
Study of Scaling Disorders and Other Inherited Skin Diseases
The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause.
- Conditions
- Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis
- Trial name
- NCT00001292
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Smith Lemli Opitz Syndrome, CHILD Syndrome
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage.
- Conditions
- Smith Lemli Opitz Syndrome, CHILD Syndrome, Lathosterolosis, Desmosterolosis
- Trial name
- NCT05047354
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Internalizing Psychopathologies (IPs) Depression and Anxiety
Negative Valence Brain Targets and Predictors of Anxiety and Depression Treatment
Internalizing psychopathologies (IPs) involving depression and anxiety are among the most prevalent, costly and disabling illnesses.
- Trial name
- NCT01903447
- Testing
- SSRI, CBT
- Where
- United States
- Volunteers
- 271 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Psoriasis Vulgaris, Atopic Dermatitis
The Role Of Neutrophil Proteases As Global Regulators Of Il-1 Family Cytokine Activity In Skin Disorders
Pro-inflammatory cytokines are critically important drivers of inflammatory and autoimmune diseases and cytokine-targeted biologics have been transformative in the treatment of several inflammatory and autoimmune diseases.
- Conditions
- Psoriasis Vulgaris, Atopic Dermatitis, Ichthyosis Vulgaris
- Trial name
- NEUTROPRO (NCT04750161)
- Testing
- No intervention
- Where
- Ireland
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- St. James's Hospital, Ireland
Induced Pluripotent Stem Cells
Stem Cell Study of Genetics and Drug Addiction
Background: Researchers are interested in studying the roles that genes play in drug and alcohol addiction. Genes seem to account for about half of the differences between people who become addicted to drugs and people who do…
- Trial name
- NCT01534624
- Where
- United States
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- National Institute on Drug Abuse (NIDA)
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