Clinical trials: Congenital Ichthyosis
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
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
Netherton Syndrome
A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Netherton Syndrome
This study is open to people with a skin disease called Netherton syndrome (NS). People can join the study if they are 12 years or older.
- Trial name
- NCT05856526
- Testing
- Spesolimab - solution for infusion, Spesolimab - solution for injection
- Where
- 28 sites in United States, Australia and 12 more
- Volunteers
- 43 people
- Sponsor
- Boehringer Ingelheim
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
Irritable Bowel Syndrome
8 Weeks Treatment With DDP225 in Patients With Diarrhea Predominant IBS
In this study, female patients with IBS-d will be treated for 8 weeks to assess the safety and effectiveness of DDP225 on GI transit and in reducing IBS symptoms.
- Trial name
- NCT00230581
- Testing
- DDP225
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Dynogen Pharmaceuticals
Sjogren-Larsson Syndrome
ADX-629 Therapy for Sjogren-Larsson Syndrome
This research study will determine whether orally administered ADX-629 is safe and has biochemical efficacy in participants with Sjögren-Larsson syndrome (SLS), a rare inherited disorder of fatty aldehyde metabolism The disease…
- Trial name
- NCT05443685
- Testing
- ADX-629
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Nebraska
Sjogren-Larsson Syndrome
RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)
A Phase 3 Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Trial to Evaluate the Safety and Efficacy of ADX-102 1% Topical Dermal Cream in Subjects with Sjögren-Larsson Syndrome (SLS).
- Trial name
- NCT03445650
- Testing
- ADX-102 1% Topical Dermal Cream (reproxalap), Vehicle of ADX-102 Topical Dermal Cream
- Where
- 2 sites in United States
- Volunteers
- 11 people
- Sponsor
- Aldeyra Therapeutics, Inc.
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
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)
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.
Skin Diseases
Repurposing Dupilumab for Management of Pruritic Genetic Inflammatory Skin Disorders
Severe itch is a common symptom of many genetic skin disorders and leads to a negative impact on patient quality of life. The investigators hypothesize that: a) intervention with dupilumab will improve itch in patients with…
- Trial name
- NCT05649098
- Testing
- Dupilumab
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Northwestern University
Netherton Syndrome
A Study to Explore Safety, Pharmacokinetics, and Early Clinical Signal of Efficacy of DS-2325a in Patients With Netherton Syndrome
Netherton Syndrome (NS) is a severe rare disease characterized by generalized scaling, erythema, and epidermal barrier defects. This study assessed the safety, pharmacokinetics (PK), and efficacy of DS-2325a in patients with NS.
- Trial name
- NCT05979831
- Testing
- DS-2325a
- Where
- France
- Volunteers
- 9 people
- Sponsor
- Daiichi Sankyo
Sjogren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy.
- Trial name
- SLS (NCT01971957)
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- University of Nebraska
Ichthyosis
A Study to Evaluate the Efficacy and Safety of Imsidolimab (ANB019) in the Treatment of Participants With Ichthyosis
Efficacy and Safety of imsidolimab in Participants with Ichthyosis
- Trial name
- NCT04697056
- Testing
- Imsidolimab
- Where
- 7 sites in United States
- Volunteers
- 5 people
- Sponsor
- Vanda Pharmaceuticals
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
Sezary Syndrome, Ichthyosis, Lamellar
Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)
Autosomal recessive congenital ichthyoses (ARCI) are monogenic diseases of cornification that correspond to a diffuse abnormality (affecting the entire integument) of epidermal differentiation and therefore of the skin barrier.
- Trial name
- NIPALYMPHO (NCT07477769)
- Testing
- blood sampling
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Epidermolysis Bullosa Simplex, Ichthyosis
A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
The goal of this clinical trial is to learn about deucravacitinib treatment in adults with inflammatory epidermal genodermatoses . The main question it aims to answer are: describe efficacity and safety of this treatment.
- Conditions
- Epidermolysis Bullosa Simplex, Ichthyosis, Genodermatosis, Inflammatory Congenital Ichthyoses
- Trial name
- GENEPID (NCT06136403)
- Testing
- deucravacitinib
- Where
- 2 sites in France
- Volunteers
- 8 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Lamellar Ichthyosis
Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous
Lamellar ichthyosis (IL) is a rare autosomal recessive genodermatosis with a defect of keratinization of the skin which results in a severe generalized cutaneous xerosis with dark brown big scales, an ectropion, an eclabion, an…
- Trial name
- NCT01222000
- Testing
- apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
- Where
- 2 sites in France
- Volunteers
- 6 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Malignant Soft Tissue Sarcoma
Use of Propranolol Hydrochloride in the Treatment of Metastatic STS
Fifty patients with pathological proof of malignant soft tissue sarcoma will receive Anthracyclin based chemotherapy combined with propranolol 40 mg twice daily.
- Trial name
- NCT03108300
- Testing
- Propranolol Hydrochloride, Doxorubicin
- Volunteers
- 50 people
- Sponsor
- Ain Shams University