Clinical trials: Genetic Association Studies
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Maculopathy, Age-Related, Choroidal Neovascularization
Age-related Macular Degeneration: Detection of Onset of New Choroidal Neovascularization (AMD DOC Study)
The purpose of this study is to determine the sensitivity of the optical coherence tomography (OCT) test in detecting neovascular AMD in eyes at high risk for CNV development.
- Trial name
- NCT00417846
- Where
- 4 sites in United States
- Volunteers
- 98 people
- Sponsor
- Johns Hopkins University
Unruptured Cerebral Aneurysm
Identification of Genetic Polymorphisms Related to Propofol Requirement and Recovery Through Genome-wide Association Study (GWAS) in Total Intravenous Anesthesia for Clipping of Unruptured Cerebral Aneurysm in Korean Population
In neurosurgical anesthesia, propofol based total intravenous anesthesia (TIVA) is frequently used due to brain relaxation and less effect on electrophysiologic monitoring.
- Trial name
- NCT03087383
- Where
- South Korea
- Volunteers
- 500 people
- Sponsor
- Yonsei University
Primary Immunodeficiency Diseases (PID)
Ex Vivo Evaluation of JAK-inhibitor and Gene Therapeutical Approach in JAK-STAT Related Disorders
The investigators want to study the JAK-inhibitors and their impact on the immune system and evaluate the potential of a gene-therapeutic strategy
- Trial name
- JAKarta (NCT07261891)
- Testing
- blood sampling
- Where
- Belgium
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- prof. dr. Rik Schrijvers
Charcot-Marie-Tooth Disease, Type IA, Peripheral Neuropathy Hereditary
Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary peripheral neuropathy, affecting approximately 26,000 patients in France.
- Conditions
- Charcot-Marie-Tooth Disease, Type IA, Peripheral Neuropathy Hereditary, Motor Activity, Walking, Difficulty
- Trial name
- CMT1A-HOME (NCT07591779)
- Where
- France
- Volunteers
- 60 people
- Sponsor
- University Hospital, Limoges
Fabry Disease
Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
The investigators will perform a study with two major components. The first is a natural history study of untreated Fabry patients.
- Trial name
- LDN6702 (NCT01581424)
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- University of Minnesota
Ataxia, Gait
Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
Cerebellar ataxias of late onset are of undetermined etiology in many cases. A new cause of late-onset cerebellar ataxia was discovered in January 2023 corresponding to an expansion of GAA triplets in intron 1 of the FGF14 gene.
- Trial name
- GAA-FGF14 (NCT05884086)
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Central Hospital, Nancy, France
Age - Related Macular Degeneration (AMD), Diabetic Macular Edema
Wide Field OCTA in Ocular Diseases
The main retinal diseases, whether or not associated with specific mutations genetic, cause progressive degeneration of vascular retinal structures and not vascular, resulting in decreased visual function.
- Conditions
- Age - Related Macular Degeneration (AMD), Diabetic Macular Edema, Diabetic Retinopathy, Myopia
- Trial name
- WOOD-2025 (NCT07298174)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Lipodystrophy, Dunnigan Syndrome
Exploratory Study of the Relationships Between the Biomarkers of Inflammation, Lipidome and Insulin Resistance and Disorders of Glycemic Regulation in a Cohort of Insulin-resistant Subjects Due to Excess Weight or Dunnigan's Lipodystrophy
The objective of this work is to identify biomarkers of interest in patients with insulin resistance leading to early disorders of glycemic regulation.
- Trial name
- IRAP-DUN 2 (NCT05424913)
- Testing
- research-specific blood sample
- Where
- Reunion
- Volunteers
- 150 people
- Sponsor
- Centre Hospitalier Universitaire de la Réunion
Retinitis Pigmentosa, Retinal Degeneration
The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients
Medical Marijuana is used widely, and its effects on the visual system and the function of the retina have not been investigated thoroughly.
- Conditions
- Retinitis Pigmentosa, Retinal Degeneration, Cannabis
- Trial name
- NCT03078309
- Testing
- cannabis
- Where
- Israel
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Non-Small Cell Lung Cancer, Squamous Non-Small Cell Lung Cancer
A Study to Assess the Efficacy and Safety of the VEGFR-FGFR Inhibitor, Lucitanib, Given to Patients With Advanced/Metastatic Lung Cancer and FGF, VEGF, or PDGF Related Genetic Alterations
The purpose of this study is to determine whether lucitanib is safe and effective in the treatment of patients with advanced/metastatic lung cancer and fibroblast growth factor (FGF), vascular endothelial growth factor receptor…
- Conditions
- Non-Small Cell Lung Cancer, Squamous Non-Small Cell Lung Cancer, NSCLC, Small Cell Lung Cancer
- Trial name
- NCT02109016
- Testing
- Lucitanib
- Where
- 19 sites in United States, France and 3 more
- Volunteers
- 18 people
- Sponsor
- Clovis Oncology, Inc.
Childhood Cancer, Genetic Predisposition
Genetic Risks for Childhood Cancer Complications in Switzerland
The objectives of the GECCOS project are to identify genetic variants associated with complications of childhood cancer using genotype-phenotype association studies.
- Conditions
- Childhood Cancer, Genetic Predisposition, Late Effect
- Trial name
- GECCOS (NCT04702321)
- Testing
- Procedure: Biospecimen Collection, Procedure: Medical Chart Review
- Where
- Switzerland
- Volunteers
- 6,000 people
- Sponsor
- University Hospital, Geneva
Obesity, Metabolic Syndrome
Association of Genes to Resistance to Weight Loss in Obese Patients
The overall goal of this study is to determine whether variations in the perilipin, and several other, genes would be a useful tool for physicians who are caring for morbidly obese patients to guide therapy.
- Conditions
- Obesity, Metabolic Syndrome, Dyslipidemia
- Trial name
- NCT00858221
- Where
- United States
- Volunteers
- 824 people
- Sponsor
- Interleukin Genetics, Inc.
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
Bipolar and Related Disorders
Enhancing Cognitive Reserve of the Offsprings of Bipolar and Schizophrenic Patients
The high hereditary component and the contribution of neurodevelopmental processes in bipolar disorder and schizophrenia means implies the children of these patients are considered a high risk population for both diseases and…
- Trial name
- NCT03722082
- Testing
- Enhancing Cognitive Reserve, Support intervention
- Where
- Spain
- Volunteers
- 173 people, healthy volunteers welcome
- Sponsor
- Hospital Clinic of Barcelona
Cancer
Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment
RATIONALE: Caspofungin acetate or amphotericin B liposomal may be effective in preventing or controlling fever and neutropenia caused by chemotherapy, bone marrow transplantation, or peripheral stem cell transplantation.
- Trial name
- NCT00008359
- Testing
- caspofungin acetate, liposomal amphotericin B
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
PIK3CA-Related Overgrowth Spectrum (PROS)
Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib
The study was a site-based retrospective non-interventional medical chart review of pediatric and adult male and female patients with PIK3CA-Related Overgrowth Spectrum (PROS) who initiated alpelisib at least 24 weeks before the…
- Trial name
- EPIK-P1 (NCT04285723)
- Testing
- alpelisib
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
Prader-Willi Syndrome
Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation
The present project project is divided in two parts. The primary aim of the part 1 of this study is to evaluate emotional control abilities of children with Prader-Willi syndrome (PWS) aged from 9 to 15 years and to study…
- Trial name
- PRACOM1 (NCT04526379)
- Testing
- Questionnaires, t-VNS
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
VHL Syndrome, Renal Cell Carcinoma
Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma
VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC).
- Trial name
- NCT06391879
- Testing
- Single cell sequencing, whole genome and metabolomic sequencing
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Peking University First Hospital
Wet AMD
Genetics Study of Wet Age-Related Macular Degeneration (AMD) Non-Responders to Vascular Endothelial Growth Factor (VEGF) Therapy
To obtain a genotypic analysis of patients with chronic exudative age-related macular degeneration noted to have subretinal or intraretinal edema despite continuous monthly Anti-VEGF therapy.
- Trial name
- NCT01310686
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- West Coast Retina Medical Group, Inc.