Clinical trials: Inherited Genetic Conditions (Diagnosis)
Diabetes Mellitus, Hypertension
Evidence-based Laboratory Test Order Sets in Primary Care
Cluster randomised controlled trial to evaluate what the effect is of evidence-based order sets aimed at five indications on the appropriateness of laboratory test ordering in primary care.
- Conditions
- Diabetes Mellitus, Hypertension, Cardiovascular Diseases, Fatigue
- Trial name
- NCT02950142
- Testing
- CPOE with order sets for lab testing, CPOE without order sets for lab testing
- Where
- Belgium
- Volunteers
- 288 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Ehlers-Danlos Syndrome Hypermobility Type (hEDS), Ehlers-Danlos Syndrome (EDS)
Regenerative Medicine for Joint Hypermobility and Instability
This clinical trial is designed to evaluate whether a stepwise injection-based treatment approach can reduce pain and improve function in adults with joint hypermobility, connective tissue laxity, and joint instability.
- Conditions
- Ehlers-Danlos Syndrome Hypermobility Type (hEDS), Ehlers-Danlos Syndrome (EDS), Joint Hypermobility, Joint Instability
- Trial name
- NCT07688096
- Testing
- Dextrose 20% Prolotherapy, Autologous Platelet-Rich Plasma, Doxycycline Hyclate Injectable (Investigational)
- Volunteers
- 100 people
- Sponsor
- Manhattan Pain Medicine, PLLC
Mitochondrial Myopathy
Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy
OBJECTIVES: I. Assess the efficacy of thioctic acid in treating a single patient with mitochondrial myopathy.
- Trial name
- NCT00004770
- Testing
- thioctic acid
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
Hepatitis Autoimmune Disease, Primary Biliary Cholangitis (PBC)
Spanish Registry of Autoimmune and Cholestatic Liver Diseases (ColHai)
The purpose of the registry is to know the status of primary biliary colgantis, autoimmune hepatitis, primary sclerosing cholagitis and genetic cholestatic diseases in Spain.
- Conditions
- Hepatitis Autoimmune Disease, Primary Biliary Cholangitis (PBC), Primary Sclerosing Cholangitis (PSC), Cholestatic Genetic Diseases
- Trial name
- ColHai (NCT06767605)
- Where
- Spain
- Volunteers
- 5,000 people
- Sponsor
- Asociación Española para el Estudio del Hígado
Antimicrobial Resistance (AMR)
NCCR AntiResist:: New Approaches to Combat Antibiotic-resistant Bacteria
This is an explorative, mono-center study including prospectively collected patient samples from the University Hospital of Basel.
- Trial name
- AntiResist (NCT05017766)
- Testing
- analysis of antimicrobial resistance
- Where
- Switzerland
- Volunteers
- 8,000 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
MPS II, Mucopolysaccharidosis II
MPS II Immunophenotyping
The purpose of this study is to investigate how participant's body's immune system responds to idursulfase, an enzyme replacement therapy (ERT) and find out which types of immune cells are involved in causing untoward responses…
- Conditions
- MPS II, Mucopolysaccharidosis II, Hunter Syndrome
- Trial name
- NCT04976231
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Duke University
Prader Willi Syndrome, Childhood Obesity
Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study
Compared to other children, those with disability have additional challenges to being physically active. Prader-Willi Syndrome (PWS) is a genetic form of childhood obesity that is characterized by hypotonia, growth hormone…
- Trial name
- APAH (NCT02058342)
- Testing
- Active Play at Home
- Where
- 2 sites in United States
- Volunteers
- 115 people
- Sponsor
- California State University, Fullerton
Cadasil
AusCADASIL: An Australian Cohort of CADASIL
The aim of this project is to establish an Australian cohort of patients diagnosed with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
- Trial name
- NCT06148051
- Where
- 5 sites in Australia
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Perminder Sachdev
Rett Syndrome
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II.
- Trial name
- NCT00004773
- Volunteers
- 95 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Obesity, PreDiabetes
Network Meta-analysis of Intermittent Fasting and Cardiometabolic Risk
Intermittent fasting is a method of restricting calories over a defined period of time and includes regimens such as whole-day fasting, alternate-day fasting, and time-restricted feeding.
- Conditions
- Obesity, PreDiabetes, Diabetes, Hypertension
- Trial name
- NCT05309057
- Testing
- Intermittent Fasting
- Where
- 2 sites in Canada
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Toronto
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
Benign Prostatic Hyperplasia
Efficacy of Prostatic Artery Embolization (PAE) in Patients With Severe Benign Prostatic Hyperplasia (BPH)
Purpose: To evaluate the efficacy of prostatic artery embolization (PAE) in patients with benign prostatic hyperplasia (BPH) and refractory lower urinary tract symptoms (LUTS) in decreasing the volume of the prostate gland.
- Trial name
- NCT02167919
- Testing
- Microspheres
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of North Carolina, Chapel Hill
Friedreich Ataxia
Efficacy Study of Epoetin Alfa in Friedreich Ataxia
Friedreich's ataxia (FRDA) is a rare genetic disorder characterised by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency.
- Trial name
- FRIEMAX (NCT01493973)
- Testing
- Epoetin alfa
- Where
- 3 sites in Italy
- Volunteers
- 56 people
- Sponsor
- Federico II University
Chronic Stable Angina
Pharmacokinetics of AUX-001 40mg Once-daily in Healthy Subjects Under Fasting and Fed Conditions
Exploratory, single-dose, open-label, pharmacokinetic study to establish uptake, plasma levels safety and tolerability of orally administered AUX-001 on an empty stomach (i.e, fasting) as well as after a meal (i.e.
- Trial name
- NCT06249581
- Testing
- AUX-001 40mg once-daily
- Where
- Portugal
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Auxilius Pharma sp.z.o.o.
Pulmonary Emphysema in Alpha-1 PI Deficiency
Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD)
This is a multi-center, randomized, placebo-controlled, double blind clinical study to assess the efficacy and safety of two separate dose regimens of Alpha-1 MP versus placebo for 156 weeks (i.e., 3 years) using computed…
- Trial name
- SPARTA (NCT01983241)
- Testing
- Alpha-1 MP, 0.9% Sodium Chloride for Injection, USP
- Where
- 52 sites in United States, Argentina and 15 more
- Volunteers
- 345 people
- Sponsor
- Grifols Therapeutics LLC
Gut Health
Effectiveness of a Butyrate Formulation and Butyrate + Polyphenol Formulation on Gut Health, Permeability and Associated Symptoms
The purpose of this study is the assess the effectiveness and safety of a Butyrate formulation and a Butyrate + Polyphenol formulation on gut health, permeability and associated symptoms
- Trial name
- NCT06419231
- Testing
- Butyrate Formulation, Butyrate + Polyphenol Formulation
- Where
- United States
- Volunteers
- 143 people, healthy volunteers welcome
- Sponsor
- Supplement Formulators, Inc.
Sickle Cell Disease
Lung Ultrasound in Pediatric Acute Chest Syndrome
Sickle-cell disease is a common disease with serious complications, in particular acute chest syndrome (ACS), which can be life threatening.
- Trial name
- Lupacs (NCT06497153)
- Testing
- lung ultrasound
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Prader-Willi Syndrome, Hypothalamic Obesity
Tirzepatide in PWS, HO and GNSO
This research study is comparing the effectiveness of a weight loss medication called Tirzepatide in young adults with Prader-Willi Syndrome and/or hypothalamic obesity, as compared to young adults with obesity that is unrelated…
- Conditions
- Prader-Willi Syndrome, Hypothalamic Obesity, Obesity/Therapy
- Trial name
- NCT06901245
- Testing
- Tirzepatide
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- Grace Kim
Sickle Cell Disease, Pain
Nitric Oxide and Sickle Cell Pain
Background: Sickle cell disease often causes crises, with episodes of pain. Many people with sickle cell disease also have pain between crises. Inflammation is an important part of sickle cell pain.
- Trial name
- NCT01393847
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- National Institute of Nursing Research (NINR)
Heart Failure, Coronary Artery Disease
COVID-19 Testing in Underserved and Vulnerable Populations
As part of National Institutes of Health Rapid Acceleration of Diagnostics-Underserved Populations (RADx-UP) program, the goal of the RADxUP study is to develop, test, and evaluate a rapid, scalable capacity building project to…
- Conditions
- Heart Failure, Coronary Artery Disease, Cancer, Chronic Kidney Diseases
- Trial name
- NCT05315908
- Testing
- Community outreach method
- Where
- United States
- Volunteers
- 9,120 people
- Sponsor
- Jesse Nodora
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