Clinical trials: Genetic Conditions
Huntington Disease, Tardive Dyskinesia
A Dose-escalation Study to Evaluate the Safety, Tolerability and Pharmacokinetic of LPM3770164 in Healthy Subjects
This is a single-center, randomized, double-blinded, placebo-controlled, dose escalation trial to evaluate the safety, tolerability and pharmacokinetic of LPM3770164 sustained-release tablets orally administered in healthy…
- Trial name
- NCT05238701
- Testing
- LPM3770164 sustained release tablet, LPM3770164 sustained release tablet simulant
- Where
- China
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Luye Pharma Group Ltd.
Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis
An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
The primary objectives of the study are to assess the mass balance recovery after a single dose of carbon-14 [14C]-A4250 as a capsule and to provide plasma, urine and faecal samples for metabolite profiling and structural…
- Conditions
- Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Primary Biliary Cirrhosis
- Trial name
- NCT03082937
- Testing
- 3 mg [14C]-A4250 capsule
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Albireo
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
The purpose of the study is to collect preliminary data on whether the drug adalimumab (also called Humira) can decrease pain and stiffness, improve quality of life, and is safe in people with mucopolysaccharidosis type I, II, or…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- Trial name
- NCT02437253
- Testing
- Adalimumab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Cystic Fibrosis
Effect of Acid Blockade on Microbiota and Inflammation in Cystic Fibrosis (CF)
Mucus in the airways of patients with CF represents an area for bacteria proliferation, microbial infection and inflammation. Similar to the lung, the esophagus provides an environment for bacterial to grow.
- Trial name
- NCT02769637
- Testing
- PPI treatment
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- University of Colorado, Denver
Chronic Granulomatous Disease
Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients
Treatment Study to assess of safety and efficiency of conditioning with Plerixafor and G-CSF as additional agents for prevention of graft failure after transplantation in patients with chronic granulomatous disease
- Trial name
- NCT03547830
- Testing
- Plerixafor, Gcsf
- Where
- Russia
- Volunteers
- 17 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Left Ventricular Hypertrophy
Frequency of Cardiac Amyloidosis in the Caribbean's. (TEAM Amylose)
The frequency of cardiac amyloidosis among patients presenting with a so-called left ventricular hypertrophy remains unknown. This problem is especially relevant in the Caribbean's, where an amyloidosis-prone mutation of…
- Trial name
- NCT03322319
- Testing
- Tissue biopsies
- Where
- 2 sites in Guadeloupe, Martinique
- Volunteers
- 175 people
- Sponsor
- University Hospital Center of Martinique
Mild Cognitive Impairment (MCI), Alzheimer Dementia (AD)
Predicting Pre-dementia
The goal of this observational study is to learn how well a multimodal "Progression and Risk" (PR) model can predict and stage early mild cognitive impairment (MCI) due to Alzheimer's disease in cognitively normal or very mildly…
- Conditions
- Mild Cognitive Impairment (MCI), Alzheimer Dementia (AD), Alzheimer Disease (AD), APOE-4 Positive
- Trial name
- NCT07516119
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Prevention Research Consortium Corp.
Danon Disease
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B)…
- Trial name
- NCT06092034
- Testing
- RP-A501
- Where
- 6 sites in United States, Germany and 2 more
- Volunteers
- 18 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Sickle Cell Disease, Vaso-Occlusive Pain Episode in Sickle Cell Disease
Intranasal Ketamine for Pain Control in Patients with Sickle Cell Disease and Vaso-occlusive Episode (VOE) in the PED
This will be a descriptive cohort study of intranasal ketamine as the initial analgesic for children with sickle cell disease who present to the pediatric emergency department with vaso-occlusive crisis and are awaiting…
- Conditions
- Sickle Cell Disease, Vaso-Occlusive Pain Episode in Sickle Cell Disease, Vaso-occlusive Crisis, Ketamine
- Trial name
- NCT04150757
- Testing
- Intranasal ketamine
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Abigail Nixon
Intracerebral Hemorrhage
Recovery and Outcomes From Stroke
The investigators will perform follow-up on 500 cases of deep and lobar intracerebral hemorrhage to perform advanced neuroimaging before 45 days post stroke, and evaluations of motor and cognitive function at baseline, 3 months…
- Trial name
- ROSE (NCT04007757)
- Where
- 8 sites in United States
- Volunteers
- 500 people
- Sponsor
- State University of New York at Buffalo
Human Immunodeficiency Virus (HIV), Sexually Transmitted Disease (STD)
Steering Together in a New Direction: Reducing the Risk of HIV/STD Among African American Men
African American men have by far the highest rates of HIV in the US, but there are few randomized controlled trials (RCTs) of interventions to dissuade heterosexually active African American men from engaging sexual risk…
- Trial name
- STAND (NCT02572401)
- Testing
- STAND HIV Risk Reduction Intervention, Text Messaging Intervention
- Where
- United States
- Volunteers
- 391 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Obesity, Immune Deficiency
Immunoglobulin G Therapy Dose Optimization
The overall goal of this proposal is to investigate effects of obesity on pharmacokinetics of immunoglobulin G (IgG) and to develop strategies for optimization of dosing of IgG in obese patients.
- Trial name
- NCT04818177
- Testing
- Institutional standard intravenous immune globulin treatment
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Rutgers, The State University of New Jersey
Non-ischemic Cardiomyopathy, Dilated Cardiomyopathy (DCM)
Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.
Non-ischemic cardiomyopathies (NICM) represent a heterogeneous group of pathologies characterized by absence of obstructive disease of the epicardial coronary vessels and distinct structural and functional changes of the…
- Conditions
- Non-ischemic Cardiomyopathy, Dilated Cardiomyopathy (DCM), Hypertrophic Cardiomyopathy (HCM), Restrictive Cardiomyopathy
- Trial name
- AINICM (NCT06607471)
- Testing
- Support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation, Support treatment, cardiac medical treatment, aetiology-specific treatment
- Where
- Italy
- Volunteers
- 15,000 people
- Sponsor
- Scientific Institute San Raffaele
Inherited Cardiac Arrhythmias, Long QT Syndrome
Long Term Monitoring for Risk of Sudden Death
Risk prediction in in inherited heart rhythm conditions that may cause sudden cardiac arrest or death is difficult. Sometimes the risks may be low but the loss of life in an otherwise healthy young individual is catastrophic.
- Conditions
- Inherited Cardiac Arrhythmias, Long QT Syndrome, Arrhythmogenic Right Ventricular Cardiomyopathy, Brugada Syndrome
- Trial name
- NCT04124237
- Where
- Canada
- Volunteers
- 1,051 people
- Sponsor
- University of British Columbia
Childhood Soft Tissue Sarcoma, Childhood Liver Cancer
Liposomal Doxorubicin in Treating Children With Refractory Solid Tumors
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. PURPOSE: Phase I trial to study the effectiveness of liposomal doxorubicin in treating children who have…
- Conditions
- Childhood Soft Tissue Sarcoma, Childhood Liver Cancer, Bone Cancer, Brain Tumor
- Trial name
- NCT00019630
- Testing
- doxorubicin HCl liposome
- Where
- 2 sites in United States
- Sponsor
- National Cancer Institute (NCI)
Bardet-Biedl Syndrome, Orphan Diseases
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure).
- Trial name
- NCT00213811
- Testing
- clinical, biological, and radiological
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Strasbourg, France
Newborn, Hereditary Disease
The China Neonatal Genomes Project
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic…
- Conditions
- Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital
- Trial name
- CNGP (NCT03931707)
- Testing
- Genomic sequencing
- Where
- China
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Alpha1-Antitrypsin Deficiency
Safety and Pharmacokinetics of Alpha-1 MP (Alpha1-proteinase Inhibitor (Human), Modified Process) in Participants With Alpha1-Antitrypsin Deficiency
This study is a multicenter, open-label trial to evaluate the safety and pharmacokinetics of weekly intravenous infusions of 60 mg/kg of Alpha-1 MP (alpha1-proteinase inhibitor (human), modified process) for 8 weeks.
- Trial name
- NCT02870309
- Testing
- Alpha-1 MP
- Where
- 2 sites in Japan
- Volunteers
- 4 people
- Sponsor
- Grifols Therapeutics LLC
Mondini Dysplasia
Pilot Study of Familial Nonsyndromal Mondini Dysplasia
OBJECTIVES: I. Determine the mode of inheritance of nonsyndromal Mondini inner ear dysplasia, an inner ear malformation causing deafness, vestibular dysfunction, and recurrent meningitis.
- Trial name
- NCT00004336
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- National Center for Research Resources (NCRR)
Hemophilia A, Hemophilia A, Severe
Hemophilia A Research Program
This study longitudinally observes the intergenerational (mother-child) continuum in hemophilia A from pregnancy through early childhood.
- Conditions
- Hemophilia A, Hemophilia A, Severe, Factor VIII (FVIII), FVIII Deficiency
- Trial name
- HARP (NCT07414511)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Washington
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