Clinical trials: Genetic Association Studies
Bipolar Disorder, Euthymic State
Study of Predictor of Mood Relapse in Bipolar Disorders
Study in 400 patients with bipolar disorder I or II, of relapse risk factors. The principal objective of this research is to test the predictive value of core vulnerability dimensions such as affective instability and emotional…
- Trial name
- RechuteBP (NCT02572674)
- Testing
- Experimental follow up, Genetic sample
- Where
- France
- Volunteers
- 274 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Autism Spectrum Disorder (ASD)
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups.
- Trial name
- ASD-Omics-TR (NCT06662591)
- Where
- 20 sites in Turkey (Türkiye)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Research and Treatment Society of Genetic Disorders
Alzheimer Disease and Related Dementias, Cognition
Home-Based Brain Stimulation for Motoric Cognitive Risk Syndrome
The objective of this study is to determine the effects of a 6-month, home-based personalized transcranial direct current stimulation (tDCS) intervention targeting the left dorsolateral prefrontal cortex on cognitive function…
- Conditions
- Alzheimer Disease and Related Dementias, Cognition, Mobility Disability
- Trial name
- TDCS4MCR (NCT06821568)
- Testing
- Personalized Transcranial Direct Current Stimulation (tDCS)
- Where
- 2 sites in United States, Israel
- Volunteers
- 128 people
- Sponsor
- Hebrew SeniorLife
Migraine With Aura
Neurogenetic And Hemodynamic Of Migraine Aura And Pfo
The PFOCUS Study aims to clarify the relationship between patent foramen ovale (PFO) and migraine with aura (MA). Patients diagnosed with MA according to ICHD-3 criteria will be classified as cases (PFO+) or controls (PFO-) based…
- Trial name
- PFOCUS (NCT07349004)
- Testing
- Intervention
- Where
- Italy
- Volunteers
- 240 people
- Sponsor
- Azienda Usl di Bologna
Charcot-Marie-Tooth Disease (CMT)
Research of SORD-CMT Natural History and Epalrestat Treatment
Charcot-Marie-Tooth disease (CMT) is a group of the most common hereditary peripheral neuropathy with high clinical and genetic heterogeneity.
- Trial name
- SORD-CMT (NCT05777226)
- Testing
- Epalrestat
- Volunteers
- 30 people
- Sponsor
- The Third Xiangya Hospital of Central South University
Retinitis Pigmentosa, Macula Off
Transcorneal Electrical Stimulation Therapy for Retinal Disease
Transcorneal stimulation may enable neurons to survive degeneration processes via enhanced secretion of neurotrophic substances and direct stimulation of neurons.
- Conditions
- Retinitis Pigmentosa, Macula Off, Primary Open Angle Glaucoma, Hereditary Macular Degeneration
- Trial name
- NCT00804102
- Testing
- Transcorneal Electrical Stimulation, DTL-electrode attached without energy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Okuvision GmbH
Multiple Myeloma
Study of Risk Factors and Genetic Association With Bortezomib-induced Peripheral Neuropathy in Multiple Myeloma
Background and objective The introduction of a proteasome inhibitor bortezomib has significantly improved response rates and overall survival in patients with multiple myeloma (MM), and it has soon become the cornerstone of…
- Trial name
- NCT03210753
- Where
- Taiwan
- Volunteers
- 400 people
- Sponsor
- National Taiwan University Hospital
Gene and Diet Interaction
Diet Quality and Genetic Association With Body Mass Index: Results From Three Observational Studies
Background In the most recent genome-wide association study (GWAS), of the 97 body mass index (BMI)-associated single nucleotide polymorphisms (SNPs) identified, more than half of the SNPs were highly enriched for expression in…
- Trial name
- NCT03577639
- Volunteers
- 11,700 people
- Sponsor
- Harvard School of Public Health (HSPH)
Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
TRAMmoniTTR Study Genetic Screening of an At-risk Population for hATTR and Monitoring of TTR Positive Subjects
National, multicenter, epidemiological, longitudinal protocol to investigate the hATTR prevalence in an at-risk population for Hereditary Transthyretin Amyloidosis (hATTR) and subjects diagnosed with hATTR, to monitor the…
- Conditions
- Transthyretin Amyloidosis, Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy, Polyneuropathies
- Trial name
- TRAMmoniTTR (NCT03237494)
- Where
- 84 sites in Austria, Germany and 1 more
- Volunteers
- 5,028 people
- Sponsor
- CENTOGENE GmbH Rostock
Age-related Macular Degeneration, Stargardt Disease
Efficacy of Acupuncture in Macular Diseases
This is a single-arm study designed to assess the efficacy of acupuncture (Traditional Chinese Medicine) for chronic macular diseases of several types.
- Conditions
- Age-related Macular Degeneration, Stargardt Disease, Macular Dystrophy
- Trial name
- AMAD (NCT02255981)
- Testing
- Acupuncture and massage
- Where
- 2 sites in Colombia
- Volunteers
- 33 people
- Sponsor
- Escuela Neijing
Cerebra-retinal Angiopathy
COL4A1 Gene Related Cerebra-retinal Angiopathy
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
- Trial name
- COL4A1 (NCT01097564)
- Testing
- COL4A1 genetic testing
- Where
- France
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Chronic Hepatitis B
Exploring the Genome-wide Association Study of the Population With Clinical Cure Advantage in the Treatment of Chronic Hepatitis B With Long-acting Interferon
This study is a real-world case-control study conducted, with 120 CHB patients who received continuous treatment with PEG-IFN-α for more than 24 weeks as study subjects.
- Trial name
- NCT06696664
- Testing
- PEG-IFN-α
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Minghui Li
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Stuttering
Genetic Factors Related to Stuttering
Stuttering is an abnormality in speech that affects the rhythm of speech. People who stutter know what they wish to say, but at the time are unable to say it because of involuntary repetition, unnecessary lengthening…
- Trial name
- NCT00001602
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis (Pfapa), Obstructive Sleep Apnea
Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders
Background: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever syndrome of childhood.
- Conditions
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis (Pfapa), Obstructive Sleep Apnea, Tonsillitis, Tonsil Disorder
- Trial name
- NCT05656365
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Familial Mediterranean Fever
AGE and CALLY Index in Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent inflammatory attacks and persistent low-grade inflammation.
- Trial name
- NCT07439341
- Testing
- Skin Autofluorescence Measurement
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Bursa City Hospital
Spinal Muscular Atrophy Type I, Spinal Muscular Atrophy Type II
Therapeutic Management and Use of Resources and Costs of Spinal Muscular Atrophy in Spain
An observational, retrospective, cross-sectional, multicenter study. Real-world data were obtained from medical records of Spanish public hospitals (9 hospitals).
- Trial name
- NCT06632730
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Novartis
Corneal Dystrophies
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered.
- Trial name
- F3S2 (NCT05742321)
- Testing
- Genotyping, Histology, Collection of data
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Hemophilia
Association of Prophylactic Treatment With Treatment Burden and Psychosocial Variables in Patients With Hemophilia
Introduction: Hemophilia is a congenital coagulopathy characterised by recurrent haemarthrosis, leading to chronic arthropathy and functional impairment.
- Trial name
- NCT07099313
- Where
- Spain
- Volunteers
- 114 people
- Sponsor
- Investigación en Hemofilia y Fisioterapia
Alpha1-Antitrypsin Deficiency
A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems
The liver produces a protein called alpha-1 antitrypsin (AAT). AAT is normally released into the bloodstream. In some people, the liver makes an abnormal version of AAT, called Z-AAT.
- Trial name
- ALPHATUDE (NCT06512454)
- Testing
- No Intervention
- Where
- 8 sites in United States, Austria and 4 more
- Volunteers
- 500 people
- Sponsor
- Takeda