Clinical trials: Genetics, open to volunteers
Down Syndrome
Effects of Powerball in Children With Down Syndrome
This randomised clinical trial investigates the effects of powerball using static and dynamic surface on upper limb Endurance and coordination in children with Down Syndrome.
- Trial name
- NCT07244133
- Testing
- Power ball with static surface, Powerball with dynamic surface
- Where
- Pakistan
- Volunteers
- 28 people
- Sponsor
- Riphah International University
Drepanocytosis, Chronic Neurological Deficiency
Transfusion Exchanges and Cognition in Sickle Cell Disease
DREPA-COG is an observational study evaluating the effect of exchange transfusions on cognitive function in adults with severe sickle cell disease (SS or Sβ0).
- Trial name
- DREPA-COG (NCT07168447)
- Where
- 6 sites in France
- Volunteers
- 85 people
- Sponsor
- Centre Hospitalier St Anne
Breast Carcinoma, Male Breast Carcinoma
Access to Genetic Testing in Underserved Patients With Cancer
This study compares the experiences of people who receive information about genetic testing from a computer-generated character to patients who receive information from a human genetics healthcare provider.
- Conditions
- Breast Carcinoma, Male Breast Carcinoma, Malignant Solid Neoplasm, Metastatic Prostate Carcinoma
- Trial name
- NCT06422455
- Testing
- Best Practice, Educational Intervention, Electronic Health Record Review
- Where
- 2 sites in United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Charcot-Marie-Tooth Neuropathy Type 1A, Hereditary Transthyretin Amyloid Neuropathy
Longitudinal Quantitative Neuromuscular MRI in Neuropathic Patients
The pathophysiological process common to neuropathies is fatty replacement of muscle tissue, more commonly known as intramuscular fat fraction (F.F).
- Conditions
- Charcot-Marie-Tooth Neuropathy Type 1A, Hereditary Transthyretin Amyloid Neuropathy, Acquired Demyelinating Neuropathy
- Trial name
- IMAGINERV (NCT06845644)
- Testing
- Quantitative neuromuscular MRI, Neuromuscular ultrasound
- Where
- France
- Volunteers
- 120 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Rare Diseases of Genetic Origin, Rare Forms of Common Diseases Suspected of Being Genetic in Origin
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
Rare diseases are conditions affecting a small number of people, requiring specific and often multidisciplinary medical care. There are over 7,000 rare diseases, around 80% of which are genetic in origin.
- Trial name
- DISCOVERY (NCT03287193)
- Testing
- Blood and/or tissue sampling, high-throughput sequencing
- Where
- France
- Volunteers
- 850 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Cardiac Amyloidosis
Echocardiographic Characterization of Cardiac Amyloidosis
This is a mono-center observational ambispective study in which patients with cardiac amyloidosis evaluated at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Rome, Italy) will be enrolled.
- Trial name
- Echo-AMY (NCT05760287)
- Where
- Italy
- Volunteers
- 255 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Glioblastoma
Key Longitudinal Associations With Risk and Glioblastoma Outcomes
The goal of this observational study is to find out what factors affect the health and risks in adults with glioblastoma (GBM), a grade 4 brain cancer.
- Trial name
- Key LARGO (NCT06625684)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Type II Gaucher Disease
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
- Trial name
- NCT06272149
- Testing
- VGN-R08b
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Congenital Factor VII Deficiency
A Clinical Study to Assess Sutacimig in Participants With Congenital Factor VII Deficiency
Open-label study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of a single dose of sutacimig monotherapy in participants with congenital FVII deficiency (FVIID).
- Trial name
- NCT07347249
- Testing
- Sutacimig
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- Hemab ApS
Post-COVID-19 Condition, Ulcerative Colitis
Emerging Indications for Hyperbaric Oxygen Treatment
This study will evaluate the effectiveness of hyperbaric oxygen therapy (HBOT) on treating emerging indications (i.e., conditions that have shown to potentially benefit from HBOT) using the Multicenter Registry for Hyperbaric…
- Conditions
- Post-COVID-19 Condition, Ulcerative Colitis, Crohn Disease, Calciphylaxis
- Trial name
- NCT07240649
- Testing
- Hyperbaric oxygen treatment (HBOT), 100% Oxygen
- Volunteers
- 100 people
- Sponsor
- Jay C. Buckey Jr.
Barrett's Esophagus, Esophageal Neoplasm
Genetic Determinants of Barrett's Esophagus and Esophageal Adenocarcinoma
The overall objectives of this BETRNet Research Center (RC) are: 1. to conduct a rigorous, integrated spectrum of transdisciplinary human research in Barrett's esophagus (BE) and esophageal adenocarcinoma (ECA) 2.
- Trial name
- FBE (NCT00288119)
- Testing
- Balloon Capsule Device, Endoscopy
- Where
- 10 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Case Western Reserve University
Ovarian Cancer
Identification of Genetic, Phenotypic, Clinical, Biological and Histological Factors Differentiating Patients With Ovarian Cancer Who Are Refractory to Platinum-based Therapy From Patients Defined as Long-term Responders to Platinum-based Therapy
After having constituted the ORTRAI cohort using the CONSORE database at the Jean PERRIN Center, the objective is to characterize the patients both clinically and biologically, histologically and genomically.
- Trial name
- ORTRAI (NCT07361471)
- Testing
- molecular analysis
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Centre Jean Perrin
Behcet Disease
Asprosin in Behect Patients
This study aims to investigate serum Asprosin concentrations in patients with BD and their relationship with disease activity and major clinical manifestations.
- Trial name
- NCT07803198
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Assiut University
Multiple Sclerosis
Genes and Environment in Multiple Sclerosis
The purpose of the research study is to identify the genetic, environmental and immune profiles that may increase a person's risk of developing multiple sclerosis (MS).
- Trial name
- GEMS (NCT01353547)
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Sickle Cell Disease
Sickle-cell Disease Registry of the GPOH
Sickle cell disease is one of the most common hereditary diseases. Most severe complications can be avoided if the disease is detected early and treated appropriately.
- Trial name
- SichReg (NCT03327428)
- Where
- Germany
- Volunteers
- 1,000 people
- Sponsor
- University Hospital Heidelberg
Atopic Dermatitis
CorEvitas International Adolescent Atopic Dermatitis (AD) Drug Safety and Effectiveness Registry
Prospective observational registry for an adolescent cohort with AD under the care of a dermatology provider. Approximately 1500 subjects and 75 clinical sites in North America and select European countries will be recruited to…
- Trial name
- NCT06238765
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- CorEvitas
Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency
Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD)
This is a multicenter, parallel-group, double-blind, randomized phase 4 study designed to identify the optimal dose of CE1226 (2 active doses) to slow disease progression as assessed by reduced rates of annual lung density…
- Conditions
- Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency, Emphysema
- Trial name
- NCT07326592
- Testing
- CE1226
- Where
- 2 sites in Denmark
- Volunteers
- 270 people
- Sponsor
- CSL Behring
Arrhythmogenic Cardiomyopathy, PKP2-ACM
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- SNAPSHOT- PKP2 (NCT06976606)
- Where
- 6 sites in United States
- Volunteers
- 40 people
- Sponsor
- Lexeo Therapeutics
Hemophilia A
An Observational Study to Learn More About How Well Damoctocog Alfa Pegol Works in Previously Treated Children With Hemophilia A
This is an observational study of children with mild, moderate, or severe hemophilia A who are receiving damoctocog alfa pegol, and are between 7 to <12 years of age at the time of enrolment.
- Trial name
- HEM-POWR Kids (NCT07088458)
- Testing
- Damoctocog alfa pegol (Jivi, Bay94-9027)
- Where
- 12 sites in United States, Brazil and 9 more
- Volunteers
- 40 people
- Sponsor
- Bayer
Hemophilia A
Evaluation of the Safety and Efficacy of Hemophilia A Gene Therapy Drugs
This is a multi-center, Phase 1/2/3, single-arm, open-label, single-dose treatment clinical study to evaluate the safety, tolerability and efficacy of BBM-H803 injection in severe Hemophilia A subjects.
- Trial name
- NCT06111638
- Testing
- Single dose intravenous injection of BBM-H803
- Where
- 10 sites in China
- Volunteers
- 55 people
- Sponsor
- Shanghai Xinzhi BioMed Co., Ltd.
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