Clinical trials: Genetic Diseases, Inborn
Hepatitis C, Fibrosis
The Prevalence and Severity of HCV Infection in Thalassemia Major and Thalassemia Intermedia in Siriraj Hospital
The primary objective is to assess the prevalence and genotypes of HCV infection in thalassemia major and thalassemia intermediate patients who have received blood transfusion in the Department of Medicine, Faculty of Medicine…
- Conditions
- Hepatitis C, Fibrosis, Thalassemia
- Trial name
- NCT02904252
- Testing
- Transient elastography
- Where
- Thailand
- Volunteers
- 158 people
- Sponsor
- Mahidol University
Sickle Cell Disease
Hybrid Effectiveness-Implementation Trial of Guided Relaxation and Acupuncture for Chronic Sickle Cell Disease Pain
The investigators will conduct a hybrid type 1 effectiveness implementation trial to assess the effectiveness of acupuncture and guided relaxation on 360 people with Sickle Cell Disease (SCD), while observing and gathering…
- Trial name
- GRACE (NCT04906447)
- Testing
- Guided Relaxation, Acupuncture
- Where
- 5 sites in United States
- Volunteers
- 379 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Atopic Dermatitis
A Study to Assess the Efficacy and Safety of CMK389 in Patients With Moderate to Severe Atopic Dermatitis.
The main purpose of this phase 2 study was to assess the efficacy and safety of CMK389 in patients with atopic dermatitis.
- Trial name
- NCT04836858
- Testing
- CMK389
- Where
- 18 sites in Czechia, France and 4 more
- Volunteers
- 71 people
- Sponsor
- Novartis Pharmaceuticals
Sickle Cell Disease
Long-term Follow-up of Subjects with Sickle Cell Disease Treated with Ex Vivo Gene Therapy
This is a multi-center, long-term safety and efficacy follow-up study for subjects with sickle cell disease who have been treated with ex vivo gene therapy drug product in bluebird bio-sponsored clinical studies.
- Trial name
- NCT04628585
- Testing
- Safety and efficacy assessments
- Where
- 16 sites in United States, France
- Volunteers
- 85 people
- Sponsor
- Genetix Biotherapeutics Inc.
Retinal Hemangioblastoma, Von Hippel-Lindau Disease
Retrospective Case Series of Trans-scleral Cryotherapy for Retinal Hemangioblastoma
Background: Retinal hemangioblastoma (RH) is a tumor. It grows from the retina in the eye. It can threaten a person s vision. Trans-scleral cryotherapy is used to destroy the tumors and minimize the long-term risks of vision…
- Trial name
- NCT04458935
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Eye Institute (NEI)
Hyperlipoproteinemia Type II, Hypercholesterolemia, Familial
Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
The objective of this study is to evaluate the efficacy and tolerability of adding anacetrapib to ongoing statin therapy in participants with heterozygous familial hypercholesterolemia (HeFH).
- Trial name
- REALIZE (NCT01524289)
- Testing
- Anacetrapib
- Volunteers
- 306 people
- Sponsor
- Merck Sharp & Dohme LLC
Growth Disorders
Treatment of Children and Adolescents With Growth Failure Associated With Primary IGF-1 Deficiency
This is an extension study to Tercica study MS301 (NCT00125164) and is intended to collect long term safety and efficacy data on the continued use of recombinant human insulin-like growth factor-1 (rh IGF-1) in children and…
- Trial name
- NCT00330668
- Testing
- rh IGF-1 (mecasermin)
- Where
- France
- Volunteers
- 114 people
- Sponsor
- Ipsen
Autosomal Dominant Polycystic Kidney Disease
High Water Intake in Polycystic Kidney Disease
DRINK is an open-label randomised controlled feasibility trial of high versus ad libitum water intake in ADPKD.
- Trial name
- DRINK (NCT02933268)
- Testing
- High water intake, Ad libitum water intake
- Where
- United Kingdom
- Volunteers
- 42 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
Evaluation of Plasma Lipoproteins
Evaluation of Lipoproteins
Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the blood stream. These particles are involved in causing blood vessel disease that can lead to conditions like hardening of the arteries…
- Trial name
- NCT00001168
- Testing
- Balanced diet
- Where
- United States
- Volunteers
- 1,017 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Hereditary Angioedema
Assessment of the State of Health, Quality of Life and Expectations of Patients With Hereditary Angioedema
8 years after the establishment of the therapeutic education program and 14 years after the creation of the National Reference Center for Angioedemas (CREAK), it is necessary to make an inventory in 2021 on the disease…
- Trial name
- BESQAOH (NCT04888650)
- Testing
- questionnaire
- Where
- France
- Volunteers
- 314 people
- Sponsor
- University Hospital, Grenoble
Critical Illness
Cytomegalovirus Control in Critical Care
The purpose of this study is to determine whether reactivation of latent cytomegalovirus infection in critically ill patients looked after in the intensive care unit can be successfully and safely prevented using antiviral…
- Trial name
- CCCC (NCT01503918)
- Testing
- Valaciclovir/Aciclovir, Valganciclovir/Ganciclovir
- Where
- United Kingdom
- Volunteers
- 124 people
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Glycogen Storage Disease Type II
Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.
- Trial name
- NCT02761421
- Testing
- observation study
- Where
- Taiwan
- Volunteers
- 15 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Dilated Cardiomyopathy
Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Ancillary Study
The Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Study is an ancillary study from the parent study, DCM Precision Medicine Study.
- Trial name
- NCT04638621
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Ohio State University
Cystic Fibrosis
Evaluation of Long-Term Safety and Efficacy of Vanzacaftor/Tezacaftor/Deutivacaftor in Cystic Fibrosis Participants 1 Year of Age and Older
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of vanzacaftor/tezacaftor/deutivacaftor (VNZ/TEZ/D-IVA) in participants with cystic fibrosis (CF).
- Trial name
- NCT05844449
- Testing
- VNZ/TEZ/D-IVA
- Where
- 37 sites in United States, Australia and 8 more
- Volunteers
- 174 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Neurofibromatosis 1 and 2 (NF1 and NF2)
A Single Center Pilot Study to Assess the Intra-observer Reliability of Measuring Muscle Strength Using a Hand Held Dynamometer in Children and Adults With Neurofibromatosis Type 1 (NF1) and Type 2 (NF2)
Patients with clinically confirmed neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2) or a known neurofibromatosis (NF) mutation aged 5 years and above will be eligible to participate and will be recruited from the…
- Trial name
- NCT03672838
- Testing
- hand-held dynamometer
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- NYU Langone Health
Homozygous Familial Hypercholesterolemia (HoFH), Coronary Computed Tomography Angiography
Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)
This observational, multicenter, retrospective and prospective study aims to evaluate the impact of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerotic plaque burden in patients with Homozygous…
- Trial name
- EVOLVE-HoFH (NCT07447648)
- Where
- 13 sites in France, Italy and 2 more
- Volunteers
- 52 people
- Sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Hereditary Angioedema (HAE)
A Study of Lanadelumab in Teenagers and Adults With Hereditary Angioedema (HAE) in the Kingdom of Saudi Arabia
Hereditary angioedema (HAE) is a rare condition. It causes sudden swelling under the skin and inside the body, like in the belly, throat, or genitals.
- Trial name
- NCT07263685
- Testing
- No intervention
- Where
- Saudi Arabia
- Volunteers
- 50 people
- Sponsor
- Takeda
Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
A Natural History Study of Aspartylglucosaminuria
Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance and, ultimately, premature…
- Conditions
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency, Lysosomal Storage Diseases
- Trial name
- AGU (NCT03853876)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Neurogene Inc.
Hemophilia A
Pharmacokinetic Assessment of Standard Half-Life (SHL) FVIII, Extended Half-Life (EHL) FVIII, and Efanesoctocog Alfa (BIVV001) in Severe Hemophilia A
Primary objective To assess the half-life of BIVV001, Standard Half-Life (SHL) rFVIII and Extended Half-Life (EHL) rFVIII after a single intravenous (IV) injection Secondary objectives To characterize additional pharmacokinetic…
- Trial name
- NCT05042440
- Testing
- Efanesoctocog alfa, Octocog alfa, Rurioctocog alfa pegol
- Where
- Bulgaria
- Volunteers
- 13 people
- Sponsor
- Sanofi
Human Papillomavirus Infection, HPV
Human Papillomavirus in Young People Epidemiological Research 4
Anal cancer is overrepresented among gay, bisexual and other men who have sex with men (MSM), particularly those living with HIV.
- Conditions
- Human Papillomavirus Infection, HPV, HPV Infection, Anal Cancer
- Trial name
- HYPER4 (NCT05587738)
- Where
- Australia
- Volunteers
- 500 people
- Sponsor
- Monash University