Clinical trials: Genetics, active
Prion Disease
PrP-targeting siRNA Safety & Mechanism Study
The purpose of this trial is to evaluate safety, tolerability, pharmacokinetics and pharmacodynamic impact of PrP-siRNA in symptomatic prion disease patients and in pre-symptomatic adults at genetic risk for prion disease.
- Trial name
- PRiSM (NCT07444580)
- Testing
- PrP-siRNA
- Where
- 5 sites in United States
- Volunteers
- 45 people
- Sponsor
- Broad Institute of MIT and Harvard
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
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
Candidiasis, Fungal Infection
PTX3-targeted Antifungal Prophylaxis
This is a prospective genetically-stratified randomized double-blind event-driven multicentre clinical trial to assess the efficacy of posaconazole-based antifungal prophylaxis allocation strategies for patients with acute…
- Conditions
- Candidiasis, Fungal Infection, Acute Myeloid Leukemia, Genetic Predisposition
- Trial name
- PTX3AML (NCT03828773)
- Testing
- Posaconazole, Fluconazole
- Where
- 9 sites in Belgium, France and 1 more
- Volunteers
- 410 people
- Sponsor
- Bochud Pierre-Yves
Sickle Cell Disease
Delivering Patient-Facing Evidence-Based Guidelines Through mHealth to Adults With Sickle Cell Disease
In a hybrid type I effectiveness-implementation trial, our three-center research teams aim to examine whether empowering adults with sickle cell disease (SCD) with patient-facing SCD-specific guidelines through an mHealth…
- Trial name
- PF-Guide (NCT06919224)
- Testing
- mHealth app + booklets
- Where
- 4 sites in United States
- Volunteers
- 287 people
- Sponsor
- Ohio State University
Psoriasis, Psoriatic Arthritis
Genetic Variation in TRAF3IP2 (rs13190932)
Psoriasis is an immune-mediated inflammatory disease that is highly prevalent worldwide, affecting approximately 2-3% of the world population.
- Trial name
- NCT07086924
- Testing
- Methotrexate
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- South Valley University
Duchenne Muscular Dystrophy, Duchenne Disease
Vasodilator and Exercise Study for DMD (VASO-REx)
Examining two strategies as potential adjuvant therapies for Duchenne muscular dystrophy (DMD); aerobic exercise training (to induce adaptations in skeletal muscle and improve cardiovascular health) and tadalafil, an FDA-approved…
- Conditions
- Duchenne Muscular Dystrophy, Duchenne Disease, Muscular Dystrophy, Muscular Dystrophy in Children
- Trial name
- NCT06290713
- Testing
- Tadalafil, Exercise Training
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Florida
Haemoglobinopathies
Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19
The COVID-19 pandemic is causing many deaths around the world, putting a strain on health services. Patients with pre-existing chronic conditions are most affected by the SARS-COV2 infection.
- Trial name
- NCT04746066
- Where
- 2 sites in Italy
- Volunteers
- 10,000 people
- Sponsor
- Società Italiana Talassemie ed Emoglobinopatie
Myotonic Dystrophy 1, Diabetes
Myotonic Dystrophy - Vascular and Cognition
The cognitive disorders of adult forms of myotonic dystrophies type 1 are heterogeneous (impairment of executive functions, visio construction and theory of the mind, which can progress to the stage of dementia).
- Conditions
- Myotonic Dystrophy 1, Diabetes, Carbohydrate Intolerance
- Trial name
- DM-VASCOG (NCT04656210)
- Testing
- MRI, neuropsychological tests
- Where
- France
- Volunteers
- 85 people
- Sponsor
- University Hospital, Lille
Corneal Edema, Corneal Endothelial Dystrophy
Study to Assess Safety and Tolerability of Multiple Doses of EO2002
The goal of this clinical study is to assess the safety of multiple intracameral injections of EO2002 with and without topical Ripasudil.
- Conditions
- Corneal Edema, Corneal Endothelial Dystrophy, Endothelial Dysfunction, Fuchs Dystrophy
- Trial name
- NCT05636579
- Testing
- EO2002, Ripasudil
- Where
- Mexico
- Volunteers
- 12 people
- Sponsor
- Asociación para Evitar la Ceguera en México
Recessive Dystrophic Epidermolysis Bullosa, Dysphagia
Treatment of Dysphagia in Patients With Dystrophic Epidermolysis Bullosa With Budesonide: a Retrospective Bicentric Study Nice - Paris St Louis / Necker (EBUDE Study)
Budesonide is an anti-inflammatory medication that works by decreasing the immune system's overreaction. In the treatment of eosinophilic esophagitis, especially with Jorveza or a preparation made in a pharmacy, it reduces the…
- Conditions
- Recessive Dystrophic Epidermolysis Bullosa, Dysphagia, Esophageal Stenosis
- Trial name
- EBUDE (NCT07684105)
- Testing
- The retrospective data collected will be entered into an eCRF and then analyzed centrally
- Where
- 3 sites in France
- Volunteers
- 15 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Achondroplasia
An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia
The intent and design of this Phase 3 study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia
- Trial name
- NCT03424018
- Testing
- BMN 111
- Where
- 24 sites in United States, Australia and 5 more
- Volunteers
- 119 people
- Sponsor
- BioMarin Pharmaceutical
Sickle Cell, Sickle Cell Disease
Impact of Regional Anesthesia on Inflammatory Mechanisms During Vaso-occlusive Crisis in Sickle Cell Patients
Sickle cell disease is a chronic disease characterized by multiple vaso-occlusive complications. The basic treatment for patients with a vaso-occlusive crisis (VOC) is based on adequate hydration, oxygen therapy and pain control.
- Conditions
- Sickle Cell, Sickle Cell Disease, Vaso-Occlusive Crises
- Trial name
- ALRCVO-MP (NCT07001189)
- Where
- Guadeloupe
- Volunteers
- 34 people
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
Preeclampsia
Predictors of Aspirin Failure in Preeclampsia Prevention
Hypertensive disorders of pregnancy (including preeclampsia) are among the leading causes of pregnancy complications and maternal deaths worldwide. They also increase the risks to the babies.
- Trial name
- NCT05709483
- Testing
- Aspirin
- Where
- United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Rockefeller University
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Hemophilia
Phase III Clinical Trial of STSP-0601 for Injection in Hemophilia Patients
This study will assess the efficacy of multiple-dose of STSP-0601 for the treatment of bleeding episodes in hemophilia A or B patients with inhibitor
- Trial name
- NCT06922045
- Testing
- STSP-0601 for Injection
- Where
- 18 sites in China
- Volunteers
- 40 people
- Sponsor
- Jiangsu BioJeTay Biotechnology Co., Ltd.
Thyroid Eye Disease
Exploring the Value of 18F-AlF-FAPI PET/CT in Assessing the Activity of Thyroid Eye Disease
FAPI PET has been developed as a promising approach for the evaluation of fibroinflammatory, such as in inflammatory bowel disease.
- Trial name
- NCT06359795
- Testing
- 18F-AlF-FAPI PET/CT, 99mTc-DTPA SPECT/CT
- Where
- China
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Advanced Pancreatic Carcinoma, Metastatic Pancreatic Carcinoma
A Phase II Nationwide, Fully Decentralized, Telemedicine Study of Pemigatinib in Adult Patients With Advanced or Metastatic Pancreatic Cancer With FGFR Genetic Alterations
This phase II study evaluates how well pemigatinib works for the treatment of adult patients with pancreatic cancer that has spread from where it first started to nearby tissue, lymph nodes, or distant parts of the body…
- Conditions
- Advanced Pancreatic Carcinoma, Metastatic Pancreatic Carcinoma, Stage II Pancreatic Cancer AJCC v8, Stage III Pancreatic Cancer AJCC v8
- Trial name
- NCT06906562
- Testing
- Pemigatinib, Computed Tomography (CT), Magnetic Resonance Imaging
- Where
- 109 sites in United States
- Volunteers
- 40 people
- Sponsor
- Sameek Roychowdhury
Still's Disease, Adult-Onset, Systemic Inflammation
Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions
Background: Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still s disease (AOSD).
- Conditions
- Still's Disease, Adult-Onset, Systemic Inflammation, Arthritis, Autoinflammatory Syndrome
- Trial name
- NCT03510442
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT03153319
- Testing
- Adalimumab Injection [Humira], Saline Solution for Injection
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
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