Clinical trials: Genetic Skin Disease
Acute Hepatic Porphyria
EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
The purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.
- Trial name
- NCT02240784
- Where
- 30 sites in United States, Australia and 18 more
- Volunteers
- 136 people
- Sponsor
- Alnylam Pharmaceuticals
Atopic Dermatitis
Texting Atopic Dermatitis Patients to Optimize Learning and EASI Scores
The purpose of this study is to determine if sending text messages with treatment reminders and facts regarding atopic dermatitis (AD) to caretakers of children with AD will have a positive effect on the disease severity.
- Trial name
- TADPOLES (NCT02779426)
- Testing
- Text messages
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Columbia University
Methicillin-Resistant Staphylococcus Aureus, Atopic Dermatitis
The Underlying Mechanisms For S. Aureus Infection And Colonization Of Skin in People With Atopic Dermatitis With And Without Eczema Herpeticum (MRSA)
Staphylococcus aureus (S.aureus) is a bacterium that causes many painful skin and soft tissue conditions, such as scalded-skin syndrome, boils, or impetigo.
- Conditions
- Methicillin-Resistant Staphylococcus Aureus, Atopic Dermatitis, Eczema Herpeticum, MRSA
- Trial name
- MRSA (NCT00822276)
- Where
- 2 sites in United States
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Erythropoietic Protoporphyria
Sorbent Therapy of the Cutaneous Porphyrias
The investigators demonstrated that cholestyramine is an effective binding agent in vitro for porphyrins. A few isolated case reports of treatment of individuals with a cutaneous porphyria suggest that cholestyramine and…
- Trial name
- EPP (NCT01422915)
- Testing
- Colestipol
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Atopic Dermatitis, Alopecia Areata
Treatment of Atopic Dermatitis and Alopecia Areata With Abrocitinib in Individuals With Down Syndrome
This is a single-center, open-label, basket phase 2b trial that will enroll Down Syndrome (DS) participants with at least one inflammatory skin condition (Atopic Dermatitis (AD) and/or Alopecia Areata (AA)).
- Trial name
- NCT07242638
- Testing
- Abrocitinib
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Laxity; Skin, Skin Hyperpigmentation
Comparison Of Aesthetic Techniques For Rejuvenation Of Genital Region: A Randomized Clinical Trial
The microneedle is a minimally invasive technique, consists of the application of a roller surrounded by small and thin needles that pierce the skin and generate a mechanical stimulus with no ablative effect on the skin.
- Conditions
- Laxity; Skin, Skin Hyperpigmentation, Needlestick Puncture
- Trial name
- NCT04998578
- Testing
- Comparison of aesthetic techniques
- Where
- 2 sites in Brazil
- Volunteers
- 112 people
- Sponsor
- Centro de Atenção ao Assoalho Pélvico
Systemic Sclerosis, Scleroderma
Scleroderma Registry
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition.
- Trial name
- Registry (NCT00074568)
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Genetic Predisposition to Disease
Breast Cancer Risk After Diagnostic Gene Sequencing
Study of the psychological impact of breast cancer risk communication in Cancer Genetics based on the personalized estimation of the BOADICEA V5/PLUS model ("Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation…
- Trial name
- BRIDGEScohort2 (NCT04145817)
- Testing
- BRIDGES gene panel testing, Breast cancer risk polygenic risk score (PRS), Questionnaires
- Where
- 2 sites in France, Germany
- Volunteers
- 405 people
- Sponsor
- Institut Curie
Epidermolysis Bullosa
Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin
Dowling Meara type of epidermolysis bullosa simplex (EBS-DM) is a rare genodermatosis due to keratin 5 and 14 mutation, characterized by skin fragility and spontaneous or post traumatic blisters.
- Trial name
- NCT01340235
- Testing
- Oral erythromycin
- Where
- 4 sites in France
- Volunteers
- 8 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Atopic Dermatitis
Safety, PK, PD, and Clinical Activity of Orally Administered KT-621 in Adult Patients With Atopic Dermatitis (AD)
This is a study to evaluate safety, tolerability, pharmacokinetics, pharmacodynamics, and clinical activity of orally administered KT-621 in adult male and female patients with moderate to severe atopic dermatitis (AD).
- Trial name
- BroADen (NCT06945458)
- Testing
- KT-621
- Where
- 12 sites in United States
- Volunteers
- 22 people
- Sponsor
- Kymera Therapeutics, Inc.
Behcet's Syndrome
Ivarmacitinib for Refractory Behcet's Syndrome
Behcet's syndrome (BS) is a multisystem autoimmune vasculitis. Current clinical treatment primarily includes glucocorticoids, immunosuppressants, and molecularly targeted drugs such as TNF-α and IL-6 inhibitors; however, some…
- Trial name
- NCT07634848
- Testing
- Ivarmacitinib
- Where
- China
- Sponsor
- Liu Tian
Autoimmune Diseases, Rheumatoid Arthritis (RA)
Study of S-4321 in Participants With an Autoimmune or Immune-mediated Disease
This is a multi-center, open-label Ph 1b basket study to assess safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), immunogenicity, biomarker response, and preliminary efficacy of multiple doses of S-4321 in…
- Conditions
- Autoimmune Diseases, Rheumatoid Arthritis (RA), Psoriatic Arthritis (PsA), Psoriasis (PsO)
- Trial name
- NCT07455578
- Testing
- S-4321
- Where
- 2 sites in Australia
- Volunteers
- 24 people
- Sponsor
- Seismic Therapeutic AU Pty Ltd
Hyper-Immunoglobulin E. Syndrome (HEIS), Chronic Granulomatous Disease (CGD)
Skin Immunity Sample Collection Involving Blisters and Biopsies
Background: The way the body heals and protects itself from getting sick is called the immune response. Some people with weak immune systems get sick often or get rashes and skin infections.
- Trial name
- NCT03921515
- Testing
- Blister induction, Skin Biopsies
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Osteogenesis Imperfecta
A First-in-Human Study Evaluating AGA2115 in Adult Healthy Volunteers
To understand if AGA2115 is safe and well tolerated in healthy adult volunteers.
- Trial name
- NCT06086613
- Testing
- AGA2115
- Where
- United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Angitia Incorporated Limited
Dermatitis Atopic
A Study to Evaluate the Efficacy and Safety of Subcutaneous Amlitelimab Monotherapy Compared With Placebo in Participants Aged 12 Years and Older With Moderate-to-severe Atopic Dermatitis
This is a parallel group, Phase 3, multinational, multicenter, randomized, double blind, placebo-controlled, 3-arm monotherapy study for treatment of participants diagnosed with moderate to severe atopic dermatitis (AD), whose…
- Trial name
- COAST 1 (NCT06130566)
- Testing
- Amlitelimab
- Where
- 148 sites in United States, Argentina and 13 more
- Volunteers
- 601 people
- Sponsor
- Sanofi
Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
This study will examine whether five drugs (pravastatin, Losartan, Zileuton, N-acetylcysteine and erythromycin) used together can slow the course of pulmonary fibrosis (scarring of the lung tissue) in patients with…
- Conditions
- Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00467831
- Testing
- Losartan, Zileuton, N-Acetylcysteine
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Advanced Breast Carcinoma, Locally Advanced Breast Carcinoma
Genetic Analysis in Blood and Tumor Samples From Patients With Advanced or Metastatic Estrogen Receptor Positive and HER2 Negative Breast Cancer Receiving Palbociclib and Endocrine Therapy
This research trial studies genetic profiles in blood and tumor samples from patients with estrogen receptor positive and HER2 negative breast cancer that has spread to other places in the body who are receiving palbociclib and…
- Conditions
- Advanced Breast Carcinoma, Locally Advanced Breast Carcinoma, Metastatic Breast Carcinoma, Recurrent Breast Carcinoma
- Trial name
- NCT03281902
- Testing
- Biopsy, Biospecimen Collection, Laboratory Biomarker Analysis
- Where
- 3 sites in United States
- Volunteers
- 68 people
- Sponsor
- Mayo Clinic
Behcet's Disease, Vasculitis
Induction Therapy With Anti-TNFα vs Cyclophosphamide in Severe Behçet Disease
Behçet's disease (BD) is a systemic vasculitis of arterial and venous vessels of any size, involving young patients (from 15 to 45 years). BD significantly increases morbidity and mortality.
- Trial name
- ITAC (NCT03371095)
- Testing
- Infliximab, Cyclophosphamide
- Where
- 27 sites in France
- Volunteers
- 53 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Diabetes Mellitus, Type 2, Diabetes Mellitus, Type 1
Prevalence and Risk Evaluation of Diabetic Complications of the Foot in A Large Canadian Population
The study aims to assess foot complications among patients with diabetes in Canada, using patient data collected during diabetes foot assessments performed by the LMC Chiropody Team between February 27, 2018 and April 17, 2019.
- Conditions
- Diabetes Mellitus, Type 2, Diabetes Mellitus, Type 1, Foot Deformities, Onychauxis
- Trial name
- PEDAL (NCT04327622)
- Where
- Canada
- Volunteers
- 5,084 people
- Sponsor
- LMC Diabetes & Endocrinology Ltd.
Dystrophic Epidermolysis Bullosa, DEB - Dystrophic Epidermolysis Bullosa
The Natural History of Wounds in Patients With Dystrophic Epidermolysis Bullosa (DEB)
This study is a non-interventional, observational study that will evaluate the natural history of wounds in patients with Dystrophic Epidermolysis Bullosa (DEB) for inclusion into the Krystal Biotech Phase III protocol of B-VEC…
- Trial name
- NCT04214002
- Where
- United States
- Sponsor
- Krystal Biotech, Inc.
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