Clinical trials: Genetic Association Studies
Amyloidosis, Familial, Transthyretin Amyloidosis
Patisiran in Patients With Hereditary Transthyretin-mediated Amyloidosis (hATTR Amyloidosis) Disease Progression Post-Liver Transplant
The purpose of this study is to evaluate the efficacy, safety and pharmacokinetics of patisiran in participants with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) with disease progression after liver…
- Trial name
- NCT03862807
- Testing
- Patisiran
- Where
- 9 sites in France, Germany and 5 more
- Volunteers
- 24 people
- Sponsor
- Alnylam Pharmaceuticals
Diabetic Nephropathy, Hypertension
Angiotensin II Antagonism of TGF-Beta 1
Diabetic nephropathy is a frequent microvascular complication that occurs in approximately 40% of patients with either type 1 or type 2 diabetes.
- Trial name
- NCT00320970
- Testing
- Candesartan
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Providence Health & Services
Gaucher Disease, Bone Diseases
Biomarkers Related to Bone in Pediatric Gaucher Disease
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD).
- Trial name
- NCT06116071
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Age-Related Macular Degeneration
Study of Safety and Efficacy of Brolucizumab 6 mg Dosed Every 4 Weeks Compared to Aflibercept 2 mg Dosed Every 4 Weeks in Patients With Retinal Fluid Despite Frequent Anti-VEGF Injections
This clinical study was designed to compare the safety and efficacy of brolucizumab 6 mg dosed every 4 weeks to aflibercept 2 mg dosed every 4 weeks in those neovascular age-related macular degeneration (nAMD) patients with…
- Trial name
- MERLIN (NCT03710564)
- Testing
- Brolucizumab, Aflibercept
- Where
- 61 sites in United States, Puerto Rico
- Volunteers
- 535 people
- Sponsor
- Novartis Pharmaceuticals
Amyloidosis; Heart (Manifestation), Senile Cardiac Amyloidosis
Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy
The objective of the study is to determine whether the combination of the bile acid TUDCA, and doxycycline will slow the progression of familial and senile amyloidosis.
- Trial name
- NCT01855360
- Testing
- Tauroursodeoxycholic Acid and Doxycycline
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Brigham and Women's Hospital
Focal Dermal Hypoplasia (FDH), Goltz Syndrome
Study of Selected X-linked Disorders: Goltz Syndrome
Focal dermal hypoplasia, or Goltz syndrome, results from genetic changes, or mutations in the PORCN gene located on the X chromosome.
- Trial name
- NCT00691223
- Where
- United States
- Volunteers
- 84 people
- Sponsor
- Baylor College of Medicine
Mucopolysaccharidosis I, Hurler's Syndrome
A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients
The purpose of this study is to determine whether the development of antibodies to laronidase in patients with MPS I receiving Aldurazyme® impairs the clearance of GAG substrate.
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie's Syndrome
- Trial name
- NCT00144768
- Testing
- laronidase
- Where
- 3 sites in United States
- Volunteers
- 25 people
- Sponsor
- Genzyme, a Sanofi Company
Advanced Stage Solid Tumors
ATRi Transition Rollover Study
The main purpose of the study was to monitor the safety of participant receiving long-term treatment of Berzosertib as monotherapy.
- Trial name
- NCT03309150
- Testing
- Berzosertib
- Where
- United Kingdom
- Volunteers
- 1 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Allergic Rhinitis, Asthma
Causal Associations Between Allergic Rhinitis and Asthma
This study investigates the causal relationship between allergic rhinitis and asthma using a bidirectional two-sample Mendelian randomization approach.
- Trial name
- NCT06668974
- Testing
- Mendelian Randomization
- Where
- China
- Volunteers
- 239,607 people
- Sponsor
- Zhibin Xu
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
Sickle Cell Disease
Stem Cell Transplant in Patients With Severe Sickle Cell Disease
This is a prospective pilot study of matched-related donor allogeneic stem cell transplantation in adults with severe sickle cell disease using a matched-sibling PBSC graft with a non-myeloablative conditioning regimen…
- Trial name
- NCT03421756
- Testing
- Alemtuzumab, Total Body Irradiation, Sirolimus
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Kathleen Dorritie
Alzheimer Disease, Schizophrenia
Multi-center Imaging Genetics Studies in China
To study the impact of genetic and environmental factors on high-level cognition associated neural circuits among healthy young Chinese Han subjects.
- Conditions
- Alzheimer Disease, Schizophrenia, Major Depressive Disorders
- Trial name
- CHIMGEN (NCT02681822)
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Tianjin Medical University General Hospital
Stargardt Disease
An Observational Study in Children and Adults With Stargardt Disease
This multicenter, prospective, longitudinal, observational study in approximately 80 subjects with Stargardt disease secondary to biallelic mutations in the ABCA4 gene (STGD1) aims to evaluate prognostic factors of disease…
- Trial name
- NCT06591806
- Where
- 2 sites in United States, Norway
- Volunteers
- 80 people
- Sponsor
- AAVantgarde Bio Srl
Hyperuricemia, Gout
Probiotic-Uricase Complex Preparation for Improving Uric Acid Metabolism in Patients With Hyperuricemia
This single-center, open-label, two-arm interventional study aims to evaluate the efficacy and safety of a probiotic-uricase complex preparation in patients with hyperuricemia.
- Trial name
- NCT07613164
- Testing
- Probiotic-uricase complex preparation
- Volunteers
- 45 people
- Sponsor
- Maanshan Shiqiye Hospital
Wilms Tumor, Neuroblastoma
Pharmacokinetic Study of Doxorubicin in Children With Cancer
Analyze pharmacokinetics of doxorubicin in children with cancer. Furthermore investigate the predictive role of troponin and natriuretic peptides for anthracycline-induced cardiotoxicity .
- Conditions
- Wilms Tumor, Neuroblastoma, Soft Tissue Sarcoma, Acute Lymphoblastic Leukemia
- Trial name
- Doxo (NCT01095926)
- Testing
- doxorubicin
- Where
- 23 sites in France, Germany and 2 more
- Volunteers
- 101 people
- Sponsor
- University Hospital Muenster
Hereditary Corneal Dystrophy, Corneal Abnormality
Safety and Efficacy Study of GEB-101 Injection in Subjects With TGFBI-related Corneal Dystrophy
The goal of this clinical trial is to evaluate the safety and efficacy of GEB-101 injection in subjects with TGFBI-related Corneal Dystrophy
- Conditions
- Hereditary Corneal Dystrophy, Corneal Abnormality, Corneal Dystrophies, Corneal Dystrophies, Hereditary
- Trial name
- CLARITY (NCT07750678)
- Testing
- GEB-101 Injection
- Where
- 2 sites in United States, China
- Volunteers
- 30 people
- Sponsor
- GenEditBio Limited
Arthritis, Psoriatic, Autoimmune Diseases
Genetic and Immune Studies of Rheumatoid Arthritis and Related Conditions
This protocol will examine blood, synovial fluid and synovial tissue from patients with rheumatoid arthritis and other chronic inflammatory joint diseases to study genetic and immunologic factors involved in the cause…
- Conditions
- Arthritis, Psoriatic, Autoimmune Diseases, Joint Diseases, Osteoarthritis
- Trial name
- NCT00001291
- Where
- United States
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Hypertension, Dyslipidemias
Exploring the Effects of Antihypertensive and Lipid-Lowering Drugs on Inflammatory Cytokine Levels
This study investigates the causal relationships between antihypertensive and lipid-lowering drugs and inflammatory cytokines using a drug-targeted Mendelian randomization approach.
- Conditions
- Hypertension, Dyslipidemias, Inflammatory Response, Chronic Inflammation
- Trial name
- MRDLT (NCT06622304)
- Where
- China
- Volunteers
- 250,736 people
- Sponsor
- Guangzhou Institute of Respiratory Disease
Homeostatic Iron Regulator Gene-related Hereditary Hemochromatosis
Efficacy and Safety of Vamifeport in Adult Participants With Homeostatic Iron Regulator Gene (HFE)-Related Hereditary Hemochromatosis
This is a phase 2, multicenter, randomized, placebo-controlled, double-blind, parallel-group, proof-of-concept study to assess vamifeport in adult participants with homeostatic iron regulator gene-related hereditary…
- Trial name
- NCT07332091
- Testing
- Vamifeport
- Where
- 100 sites in United States, Australia and 16 more
- Volunteers
- 84 people
- Sponsor
- CSL Behring
Tuberous Sclerosis Complex
Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
- Trial name
- NCT05604170
- Testing
- Ganaxolone
- Where
- 54 sites in United States, Australia and 8 more
- Volunteers
- 117 people
- Sponsor
- Marinus Pharmaceuticals