Clinical trials: Autosomal Recessive Disorder
Ischemic Heart Disease
Safety Study of Adenovirus Hepatocyte Growth Factor to Treat Ischemic Heart Disease
To explore the safety and efficiency of adenovirus-hepatocyte growth factor(Ad-HGF) treatment in ischemic heart disease.
- Trial name
- NCT01925352
- Testing
- Ad-HGF
- Where
- China
- Volunteers
- 40 people
- Sponsor
- The First Affiliated Hospital with Nanjing Medical University
Autosomal Recessive Cerebellar Ataxia
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience.
- Trial name
- RADIAL-VALID (NCT04261127)
- Testing
- Genetic diagnosis (PMDA panel), Use of RADIAL algorithm
- Where
- 8 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
polycystic kidney disease is aherditary disorder characterized by the formation of numerous fluid filled cysts in the kidneys which can lead to progressive renal impairment PKDencompasses aspectrum of disorders with autosomal…
- Trial name
- NCT06601829
- Testing
- abdominal ultrasound
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Coronary Artery Disease, Hypercholesterolemia
The Role of Atorvastatin on Monocyte Function in Patients With Coronary Artery Disease and Hypercholesterolemia
The aim of this study is to determine, whether an intensified atorvastatin therapy can improve monocyte function in patients with coronary artery disease and hypercholesterolemia.
- Conditions
- Coronary Artery Disease, Hypercholesterolemia, Monocyte Function
- Trial name
- NCT00329069
- Testing
- atorvastatin (drug)
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Ulm
Obstructive Sleep Apnea (OSA), Mild Cognitive Impairment
CPAP vs MAD for OSA in Patients With Cognitive Impairment. A Randomized Clinical Trial
Obstructive sleep apnea (OSA) is a prevalent condition that significantly impacts the sleep health and overall well-being of millions of adults worldwide.
- Trial name
- CRESCENDO (NCT06983769)
- Testing
- MAD, CPAP
- Where
- Singapore
- Volunteers
- 260 people
- Sponsor
- National University Hospital, Singapore
Atrial Fibrillation, Cardiovascular Diseases
LAAC-registry: Clinical Outcome After Echocardiography-guided LAA-closure
The study aims at comparing, in a large cohort of consecutive clinically indicated left atrial appendage closure, clinical and imaging outcomes between different subpopulations.
- Conditions
- Atrial Fibrillation, Cardiovascular Diseases, Thromboembolism
- Trial name
- NCT04628078
- Testing
- Use of echocardiography guidance for LAAC
- Where
- Switzerland
- Volunteers
- 1,000 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Ichthyosis, Autosomal Recessive Congenital Ichthyosis
The Efficacy and Safety of Secukinumab in Patients With Ichthyoses
The ichthyoses are a group of lifelong genetic disorders which share characteristics of generalized skin thickening, scaling and underlying cutaneous inflammation.
- Conditions
- Ichthyosis, Autosomal Recessive Congenital Ichthyosis, Lamellar Ichthyosis, Congenital Ichthyosiform Erythroderma
- Trial name
- NCT03041038
- Testing
- Secukinumab
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Northwestern University
Chronic Obstructive Airway Disease
Cardiac Hemodynamics in Overlap Syndrome (COPD With Obstructive Sleep Apnea)
Patients with both sleep apnea and COPD have overlap syndrome, but their optimal management is not known. We plan to conduct a randomized trial of of bi-level PAP vs.
- Trial name
- NCT01261377
- Testing
- Bi-level positive airway pressure (BPAP), Oxygen, CPAP
- Where
- 2 sites in United States
- Sponsor
- Brigham and Women's Hospital
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University
Thalassemia, Sickle Cell Disease
Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
Allogeneic blood and marrow transplantation remains the only viable cure for children who suffer from many serious non-malignant hematological diseases. Transplantation, however, carries a high risk of fatal complications.
- Conditions
- Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01319851
- Testing
- Alefacept
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
Autosomal Recessive Polycystic Kidney (ARPKD)
A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
To evaluate the pharmacodynamics and safety of tolvaptan in pediatric subjects with ARPKD
- Trial name
- NCT04782258
- Testing
- Tolvaptan Suspension, Tolvaptan Tablets
- Where
- 23 sites in United States, Belgium and 4 more
- Volunteers
- 20 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Chronic Granulomatous Disease, Granulomatous Disease, Chronic
A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
This is an open-label, single-arm, multicenter Phase 1/2 study evaluating the safety and efficacy of gene therapy by transplantation of Prime Edited autologous CD34+ stem cells modified ex vivo (PM359) in participants with…
- Trial name
- NCT06559176
- Testing
- PM359
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Prime Medicine, Inc.
p47, Autosomal Recessive
pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)
Background: Chronic granulomatous disease (CGD) is a genetic disorder. People with CGD are missing a gene that affects their white blood cells.
- Conditions
- p47, Autosomal Recessive, Chronic Granulomatous Disease
- Trial name
- NCT06253507
- Testing
- Cryopreserved Autologous CD34+ cells transduced with pCCLCHIM-p47
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Acute-graft-versus-host Disease, Steroid Refractory Acute Graft Versus Host Disease
Early Access Program Using Alpha 1 Antitrypsin Infusion for Patients With Steroid Refractory Acute GvHD After Hematopoietic Stem Cell Transplantation (HSCT)
An Early Access Program for patients with steroid refractory acute GvHD after hematopoietic stem cell transplantation. This Program is available for female and male who are recipients of allogenic HSCT and who have been newly…
- Conditions
- Acute-graft-versus-host Disease, Steroid Refractory Acute Graft Versus Host Disease, Graft-versus-host-disease, Graft Vs Host Disease
- Trial name
- NCT03172455
- Testing
- Glassia
- Sponsor
- Impatients N.V. trading as myTomorrows
Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and…
- Trial name
- cureMILS (NCT06967831)
- Testing
- skin biopsy, generation of iPSCs, blood drawing
- Where
- 2 sites in Germany
- Volunteers
- 80 people
- Sponsor
- Charite University, Berlin, Germany
Colorectal Neoplasms
Study of Tepotinib Combined With Cetuximab in Participants With Left-Sided RAS/BRAF Wild Type Metastatic Colorectal Cancer (PERSPECTIVE)
The purpose of this study was to assess the preliminary antitumor activity, safety and tolerability of tepotinib in combination with cetuximab in participants with RAS/BRAF wild-type left-sided Metastatic Colorectal Cancer (mCRC)…
- Trial name
- NCT04515394
- Testing
- Tepotinib, Cetuximab
- Where
- 65 sites in United States, Belgium and 6 more
- Volunteers
- 3 people
- Sponsor
- EMD Serono Research & Development Institute, Inc.
Obstructive Sleep Apnea
Home Diagnosis and Treatment of Obstructive Sleep Apnea
Obstructive Sleep Apnea (OSA) is a common and underrecognised condition. The diagnosis of OSA is typically made after an in-lab polysomnography (PSG) which requires an overnight stay in a sleep laboratory.
- Trial name
- NCT00139022
- Testing
- Continuous Positive Airway Pressure
- Where
- Canada
- Volunteers
- 50 people
- Sponsor
- University of Saskatchewan
Sensorineural Hearing Loss, Bilateral
Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss
Part A of this trial evaluated the safety and tolerability of a single surgical administration procedure in one or both ear(s) with one of two dose levels of AAVAnc80-hOTOF (LY888891) and evaluated the Akouos Delivery Device…
- Trial name
- NCT05821959
- Testing
- AAVAnc80-hOTOF via Akouos Delivery Device, AAVAnc80-hOTOF via Akouos Delivery Device and Precision Delivery Mechanism
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 48 people
- Sponsor
- Eli Lilly and Company
Alpha-1 Antitrypsin Deficiency, AATD
AATD-Liver Scan Study
The goal of this study is to provide liver stiffness screenings (FibroScans) to patients with Alpha-1 Antitrypsin Deficiency for the following purposes: To evaluate the prevalence of elevated liver stiffness among homozygous and…
- Conditions
- Alpha-1 Antitrypsin Deficiency, AATD, Alpha-1 Protease Inhibitor Deficiency, Alpha-1 AT Deficiency
- Trial name
- NCT07898553
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Alpha-1 Foundation