Clinical trials: Genetic Association Studies
Fanconi's Anemia, Myelodysplastic Syndromes
Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia
OBJECTIVES: I. Determine the effectiveness of moderate dose cyclophosphamide and radiotherapy in terms of improving survival and reducing the morbidity following allogeneic bone marrow transplantation in patients with…
- Conditions
- Fanconi's Anemia, Myelodysplastic Syndromes, Leukemia, Nonlymphocytic, Acute, Leukemia, Lymphocytic, Acute
- Trial name
- NCT00005892
- Testing
- cyclophosphamide, Allogeneic Bone Marrow Transplantation
- Where
- United States
- Sponsor
- Fairview University Medical Center
Cystic Fibrosis
CHaractErizing CFTR Modulated Changes in Sweat Chloride and Their Association With Clinical Outcomes
This is a multicenter, cross-sectional, cohort study which will collect contemporary sweat chloride (SC) values from approximately 5000 Cystic Fibrosis (CF) patients prescribed and currently receiving commercially approved Cystic…
- Trial name
- CHEC-SC (NCT03350828)
- Where
- 52 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- Nicole Hamblett
Advanced Solid Tumor
Berzosertib Human Mass Balance Study (DDRiver Solid Tumors 208)
The study was conducted in two periods, Period 1 (mass balance) and Period 2 (extension). The purpose of Period 1 of this study was to provide a quantitative characterization of the mass balance, rates and routes of elimination…
- Trial name
- NCT05246111
- Testing
- [14C]Berzosertib, Berzosertib, Topotecan
- Where
- 2 sites in Hungary
- Volunteers
- 6 people
- Sponsor
- Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany
Fanconi's Anemia
Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia
OBJECTIVES: I. Evaluate the toxicity of amifostine in patients with bone marrow failure related to Fanconi's anemia. II. Determine the efficacy of this treatment regimen in this patient population. III.
- Trial name
- NCT00006127
- Testing
- amifostine
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Dana-Farber Cancer Institute
Limb Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2
A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with limb girdle muscular dystrophy type 2I/R9 (LGMD2I/R9).
- Conditions
- Limb Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2, LGMD2I, Muscular Dystrophy
- Trial name
- NCT05230459
- Testing
- AB-1003 dose level 1, AB-1003 dose level 2
- Where
- 6 sites in United States
- Volunteers
- 9 people
- Sponsor
- AskBio Inc
Long Anterior Zonules
Morphological-Gene-Clinical Phenotype Correlation Study of the Long Anterior Zonule
Long anterior zonules (LAZ) is an anatomical anomaly of the anterior segment in which zonular fibers extend abnormally forward onto the anterior lens capsule.
- Trial name
- NCT07549711
- Testing
- Control, Long anterior zonules, LAZ Pedigree
- Where
- China
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Fuzhou Eye Hospital
Von Willebrand Disease, Type 3
An Observational Study of Participants With Type 3 Von Willebrand Disease on Prophylactic Standard-of-Care Treatment
This non-interventional study (NIS) is designed to collect information on the effectiveness and safety of treatment received in routine clinical care, as well as measure the health-related quality of life (HRQoL) of participants…
- Trial name
- WILL-EMI NIS (NCT06883240)
- Testing
- Von Willebrand Factor Concentrates, Von Willebrand Factor Concentrates and Factor VIII Concentrates, Factor VIII Concentrates
- Where
- 26 sites in United States, Belgium and 12 more
- Volunteers
- 44 people
- Sponsor
- Hoffmann-La Roche
Pregnancy Related, Cystic Fibrosis
Prospective Study of Pregnancy in Women With Cystic Fibrosis
In this study, the investigators aim to evaluate changes in lung function in women with cystic fibrosis (CF) during pregnancy and for 2 years after pregnancy based on exposure to highly effective cystic fibrosis transmembrane…
- Trial name
- MAYFLOWERS (NCT04828382)
- Where
- 40 sites in United States
- Volunteers
- 285 people
- Sponsor
- Amalia Magaret
Cystic Fibrosis
Sweat Response, Sweat Composition and Thermoregulatory Response to Exercise in Heat in Adults With Cystic Fibrosis on Modulator Therapy.
Cystic fibrosis (CF) is a common inherited condition in the Caucasian population resulting in poor function and/or production of the CF transmembrane conductance regulator (CFTR) protein.
- Trial name
- Sweat-CF (NCT05896488)
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- University of Portsmouth
Retinitis Pigmentosa (RP), Age Related Macular Degeneration
Evaluating a New Peptide Therapy for Retinal Diseases: AMD, Diabetic Retinopathy, and Dystrophies
Summary of the Study This clinical trial evaluates a novel peptide-based therapy for treating retinal dystrophies, age-related macular degeneration (AMD), and diabetic retinopathy (DR).
- Conditions
- Retinitis Pigmentosa (RP), Age Related Macular Degeneration, Diabetic Retinopathy
- Trial name
- Retino (NCT06787482)
- Testing
- ACE Retino
- Where
- 2 sites in Egypt
- Volunteers
- 100 people
- Sponsor
- Ace Cells Lab Limited
Adenovirus, Primary Immune Deficiency Disorder
Adenovirus-specific Cytotoxic T-lymphocytes for Refractory Adenovirus Infection
Related donor Adenovirus (ADV) specific cytotoxic T cells (CTLs) manufactured with the Miltenyi CliniMACS Prodigy Cytokine Capture System will be administered intravenously in in children, adolescents and young adults with…
- Trial name
- NCT03266627
- Testing
- cytotoxic t-lymphocytes
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Mycobacterium Infections, Nontuberculous
Genome-Wide Association Study in Patients With Nontuberculous Mycobacterial Lung Disease
The aim of this study was to elucidate genetic susceptibility of patients with nontuberculous mycobacterial lung disease using genome-wide association study.
- Trial name
- NCT02832843
- Where
- South Korea
- Volunteers
- 2,808 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Bladder Cancer, Brain and Central Nervous System Tumors
Study of Genes and Environment in Patients With Cancer in East Anglia, Trent, or West Midlands Regions of the United Kingdom
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Conditions
- Bladder Cancer, Brain and Central Nervous System Tumors, Esophageal Cancer, Intraocular Melanoma
- Trial name
- NCT00757614
- Testing
- DNA analysis, polymorphism analysis, laboratory biomarker analysis
- Where
- United Kingdom
- Volunteers
- 14,000 people
- Sponsor
- Cancer Research UK
Lymphoma, Non-Hodgkin, HIV Infections
Gene Therapy in HIV-Positive Patients With Non-Hodgkin's Lymphoma
The purpose of this study is to see if it is safe and effective to use gene therapy to treat non-Hodgkin's lymphoma (NHL) in HIV-positive patients. Stem cell transplantation is a procedure used to treat NHL.
- Trial name
- NCT00002221
- Testing
- Peripheral blood stem cells
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ribozyome
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome
Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
This is an open label, Phase 1/2 study of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA)-related Overgrowth…
- Trial name
- MOSAIC (NCT03094832)
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 2 more
- Volunteers
- 50 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Bipolar Disorder
Study of the Genetic and Environmental Factors of Vulnerability in Bipolar Disorders
Bipolar disorder is a complex, multifactorial disorder with the intervention of genetic vulnerability factors. To help the identification of these genetic factors and to improve genotype-phenotype correlation, the identification…
- Trial name
- GAN (NCT02627404)
- Testing
- Blood sample, actometer
- Where
- France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Vitamin D Deficiency
Vitamin D Intervention Trial in Healthy Chinese
To determine the dose-response between the doses of vitamin D3 supplements and raised serum levels of 25(OH)D and also the dose of vitamin D3 required to achieve circulating 25(OH)D ≥ 75 nmol/L;
- Trial name
- NCT01817036
- Testing
- Vitamin D
- Where
- China
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Sciences
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
Entrapment Neuropathy
Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device
A proof of concept study to evaluate the feasibility of safe and effective treatment through optimization of the Cryo-Touch III Device for temporary relief of pain.
- Trial name
- NCT01753778
- Testing
- Cryo-Touch III Device
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- Pacira Pharmaceuticals, Inc