Clinical trials: Hereditary Diseases
Skin Abnormalities
A Pilot Evaluation Exploring New Adhesive Materials and Their Ability to Adhere to Abdominal and Peristomal Skin
The study investigates different adhesive materials on healthy and peristomal skin
- Trial name
- NCT05641168
- Testing
- Adhesive material, Standard adhesive material
- Where
- Denmark
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Coloplast A/S
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
Cardiopulmonary Failure, Myocardial Infarction (MI)
COR-INSIGHT: Optimizing Cardiovascular and Cardiopulmonary Outcomes with AI-Driven Multiplexed Indications Using COR ECG Wearable
The COR-INSIGHT trial aims to evaluate the effectiveness of Peerbridge COR advanced ambulatory ECG wearables (COR 1.0 and COR 2.0) in accurately and non-invasively detecting cardiovascular and cardiopulmonary conditions using…
- Conditions
- Cardiopulmonary Failure, Myocardial Infarction (MI), Heart Decompensation, Heart Failure
- Trial name
- COR-INSIGHT (NCT06763549)
- Testing
- SUBPROTOCOL A, SUBPROTOCOL B, SUBPROTOCOL C
- Where
- United States
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- Peerbridge Health, Inc
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)
Choledochal Cyst
Efficacy and Safety of Surgical Treatment for Type IVa CBD
This study is a multicenter, bidirectional cohort study aimed at continuously enrolling patients with biliary dilatation from 25 medical centers in China.
- Trial name
- NCT07036848
- Where
- China
- Volunteers
- 1,500 people
- Sponsor
- Beijing Tsinghua Chang Gung Hospital
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
Hypoxia-Ischemia, Brain, Periventricular Leukomalacia
Umbilical Cord Blood Proteomic Analysis and Neonatal Brain Injury
The investigators propose to compare the proteomic analysis of umbilical venous blood from neonates with brain injury to gestational age matched noninjured controls.
- Trial name
- NCT00375908
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Johns Hopkins University
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.
Hereditary Hemorrhagic Telangiectasia
A Study to Evaluate ALN-6400 in Healthy Volunteers and Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
The purpose of this study is to: evaluate the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) of single ascending doses of ALN-6400 in healthy volunteers evaluate the efficacy, safety, tolerability and PD of…
- Trial name
- InsigHHT (NCT06659640)
- Testing
- ALN-6400
- Where
- 16 sites in United States, Australia and 4 more
- Volunteers
- 89 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
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
Mesial Temporal Lobe Epilepsy
AMT-260 Gene Therapy Study in Adults With Unilateral Refractory Mesial Temporal Lobe Epilepsy
The main goals of this clinical study are to learn if AMT-260 is safe and tolerable and works to reduce the frequency of seizures in adults with unilateral mesial temporal lobe epilepsy (MTLE).
- Trial name
- GenTLE (NCT06063850)
- Testing
- AAV9-hSyn1-miGRIK2
- Where
- 18 sites in United States
- Volunteers
- 12 people
- Sponsor
- UniQure Biopharma B.V.
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
Atopic Dermatitis, Allergy
Bathing Babies and Allergy
Atopic dermatitis (AD) is a chronic allergic skin disease with onset in early childhood and increasing prevalence in Westernized countries. Current well newborn guidelines for washing babies with soap were adopted by U.S.
- Trial name
- BBA (NCT03050658)
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Embolic Stroke of Undetermined Source, Transient Ischemic Attack
RoBotic TCD Ultrasound BubbLe Study Compared to Transthoracic Echocardiography for Detection of Right to Left Shunt
This study is a multi-center, prospective, single-arm, non-significant risk (NSR) device study in which up to 150 evaluable subjects with suspicion of embolic stroke of undetermined source (ESUS) will be evaluated with NB-IS TCD…
- Conditions
- Embolic Stroke of Undetermined Source, Transient Ischemic Attack, Right-To-Left Atrial Shunt, Patent Foramen Ovale
- Trial name
- BUBL (NCT04604015)
- Testing
- NeuralBot Investigational System, Transthoracic Echocardiography (TTE)
- Where
- 7 sites in United States
- Volunteers
- 154 people
- Sponsor
- NeuraSignal Inc dba NovaSignal