Clinical trials: Congenital Diseases
GM2 Gangliosidosis, Tay-Sachs Disease
N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff…
- Conditions
- GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease
- Trial name
- NCT03759665
- Testing
- IB1001
- Where
- 8 sites in United States, Germany and 2 more
- Volunteers
- 30 people
- Sponsor
- IntraBio Inc
Neonatal Encephalopathy, Newborn Asphyxia
Cooling in Mild Encephalopathy
The goal of this randomised control trial is to establish the safety and efficacy of whole-body hypothermia for babies with mild hypoxic ischaemic encephalopathy, inform national and international guidelines, and establish…
- Trial name
- COMET (NCT05889507)
- Testing
- Whole body hypothermia, Targeted normothermia, Supportive neonatal intensive care
- Where
- 39 sites in Italy, United Kingdom
- Volunteers
- 426 people
- Sponsor
- Imperial College London
Bronchopulmonary Dysplasia
Effect of Caffeine Versus Probiotic on Preterm Neonates With Bronchopulmonary Dysplasia
The aim of this study is to evaluate the effectiveness of caffeine versus probiotics supplementation as adjuvant therapy for preterm neonates with Bronchopulmonary dysplasia (BPD).
- Trial name
- NCT05682807
- Testing
- Caffeine, Probiotic Formula
- Where
- Egypt
- Volunteers
- 90 people
- Sponsor
- Tanta University
Developmental Disability, Autism Spectrum Disorder
The Effects of Virtual Zumba® in Individuals With Developmental Disabilities
There are critical knowledge gaps that need to be addressed to understand the impact of aerobic exercise programs on relevant functional outcomes in adults with developmental disabilities (DD).
- Conditions
- Developmental Disability, Autism Spectrum Disorder, Down Syndrome, Cerebral Palsy
- Trial name
- NCT05198232
- Testing
- Zumba High Tempo, Zumba Low Tempo
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Auburn University
Tourette Syndrome
Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
This is an investigator-initiated proof of concept study with the purpose to examine the safety, tolerability and feasibility of Dronabinol (synthetic Δ9-THC) and PEA for the treatment of adults with Tourette syndrome.
- Trial name
- NCT03066193
- Testing
- Dronabinol and Palmitoylethanolamide
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Yale University
Haemophilia
National Survey of People With Haemophilia in Portugal
The purpose of this study is to implement a national survey to collect information regarding Portuguese people with haemophilia (PWH) on socio-demographic, clinical and psychosocial factors.
- Trial name
- NCT02870114
- Where
- Portugal
- Volunteers
- 146 people
- Sponsor
- University of Minho
Anderson-Fabry Disease
Functional Capacity in Anderson-Fabry Disease Patients
The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest/stress hemodynamic parameters - assessed by echocardiogram and CMR - in patients with a genetic diagnosis…
- Trial name
- OPTIMA-FD (NCT06884358)
- Where
- 5 sites in Italy
- Volunteers
- 100 people
- Sponsor
- IRCCS Policlinico S. Donato
Cystic Fibrosis (CF)
Nutrition Supplement for Cystic Fibrosis
The goal of this study is to learn if one nutrition supplement formula works better than a different formula in adults with cystic fibrosis.
- Trial name
- NCT07163078
- Testing
- Common form supplementation, Uncommon nutrient supplementation
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Ohio State University
Retinitis Pigmentosa
A Study to Investigate the Safety of DSP-3077 After a Unilateral Eye Injection in Male and Female Participants 18 Years of Age or Older With Retinitis Pigmentosa
The Goal of this study is to evaluate the safety, tolerability, and clinical responses following single dose of DSP-3077. Study enrolls both male and female patients in 3 cohorts with each cohort defined by visual acuity (VA)…
- Trial name
- NCT06891885
- Testing
- DSP-3077 Retinal Sheet Cohort 1, DSP-3077 Retinal Sheet Cohort 2, DSP-3077 Retinal Sheet Cohort 3
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Sumitomo Pharma America, Inc.
Von Willebrand Disease
The Von Willebrand Disease (VWD) International Prophylaxis Study
The von Willebrand Disease Prophylaxis Network (VWD PN) is an international study group formed with the goal of investigating the role of prophylaxis in clinically severe VWD that is non-responsive to other treatment(s).
- Trial name
- VIP (NCT00557908)
- Testing
- VWF/FVIII products
- Where
- 3 sites in United States, Sweden
- Volunteers
- 105 people
- Sponsor
- Skane University Hospital
Sickle Cell Anemia
Neutrophil Extracellular Traps and Sickle Cell Disease
NETs formation in vaso-occlusive events in sickle cell disease and the role of hydroxyurea treatment.The study hypothesis is that NETs formation by neutrophils has a role in the induction of vaso occlusive disease in blood…
- Trial name
- NCT02004808
- Volunteers
- 15 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Cardiovascular Diseases, Heart Diseases
Long QT Syndrome-Population Genetics and Cardiac Studies
To investigate the clinical, genetic and cardiologic aspects of the Long QT Syndrome, a predominantly hereditary disease with episodic malignant arrhythmias and sudden death, and a demonstrated gene linkage in a large pedigree.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Ventricular Arrhythmia, Long QT Syndrome
- Trial name
- LQTS (NCT00005176)
- Where
- United States
- Volunteers
- 2,125 people
- Sponsor
- University of Rochester
Neuropathy, Diabetic, Diabetes Mellitus, Type 2
DECODING Study (Dermal Electrochemical Conductance in Diabetic Neuropathy)
Diabetes mellitus is the leading cause of polyneuropathy in the Western world. Diabetic neuropathy is a frequent complication of diabetes and may have great clinical transcendence due to pain and possible ulceration of the lower…
- Trial name
- DECODING (NCT03495089)
- Testing
- dermal electrochemical conductance (DEC), Monofilament testing
- Where
- 3 sites in Spain
- Volunteers
- 147 people
- Sponsor
- Fundacio d'Investigacio en Atencio Primaria Jordi Gol i Gurina
Graves' Disease, Graves Ophthalmopathy
Coagulation After Intravenous Methylprednisolone Administration
The alterations of coagulation and fibrinolysis parameters have been described in patients with endogenous Cushing's syndrome (CS) and those treated with glucocorticosteroids (GCs).
- Conditions
- Graves' Disease, Graves Ophthalmopathy, Blood Coagulation, Venous Thromboembolism
- Trial name
- NCT03535090
- Testing
- Methylprednisolone
- Volunteers
- 26 people
- Sponsor
- Piotr Miskiewicz
Neonatal Sepsis
Serum Presepsin as Early Predictor for Neonatal Early-onset Sepsis
124 neonates aged ≤7 days with suspected EOS were clinically evaluated using SNAP-II and gave blood samples for BC, total leucocytic count (TLC), lymphocytic and neutrophil count, and ELISA estimation of serum levels of PSP…
- Trial name
- NCT05022043
- Testing
- Serum Presepsin
- Where
- Egypt
- Volunteers
- 124 people
- Sponsor
- Tanta University
Polycystic Ovarian Syndrome (PCOS), Irregular Menstrual Cycles
Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome
The purpose of this study is to study the effect of a commonly used antibiotic, doxycycline, on the production of ovarian hormones and menstrual cycles in women with Polycystic Ovarian Syndrome (PCOS).
- Conditions
- Polycystic Ovarian Syndrome (PCOS), Irregular Menstrual Cycles, Androgen Excess
- Trial name
- MI-PCOS (NCT01788215)
- Testing
- doxycycline, Sugar Pill
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Gout, Hyperuricemia
Relative Bioavailability Study to Assess an LC350189 Tablet Compared to an LC350189 Capsule in Healthy Adults
This is an open-label, randomized, crossover, single dose study. Two single doses of LC350189(tablet or capsule formulations) will be administered with a washout period of at least 4-day between the doses to investigate the…
- Trial name
- NCT04886050
- Testing
- LC350189 Tablet, LC350189 Capsule
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- LG Chem
Sickle Cell Anemia
Study of Efficacy, Safety and Tolerability of ACZ885 (Canakinumab) in Pediatric and Young Adult Patients With Sickle Cell Anemia
The study assesses the efficacy, safety and tolerability of ACZ885 (canakinumab) in pediatric and young adult patients with sickle cell anemia (SCA).
- Trial name
- NCT02961218
- Testing
- ACZ885
- Where
- 15 sites in United States, Canada and 5 more
- Volunteers
- 49 people
- Sponsor
- Novartis Pharmaceuticals
Cystic Fibrosis, Pseudomonas Aeruginosa Airway Infection
Aztreonam Lysine for Inhalation in Patients With Cystic Fibrosis and Pseudomonas Aeruginosa Airway Infection
The primary objective of this program is to provide expanded access to aztreonam lysine for inhalation (AZLI) 75 mg prior to its commercial availability to patients with cystic fibrosis (CF) and chronic P.
- Trial name
- NCT00499720
- Testing
- Aztreonam Lysine for Inhalation
- Where
- 65 sites in United States, Puerto Rico
- Sponsor
- Gilead Sciences
Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia
Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism
Hypoparathyroidism (hypoPT) and pseudohypoparathyroidism (Ps-hypoPT) are rare diseases, characterized by low levels of parathyroid hormone [PTH] and plasma calcium or high plasma PTH and low plasma calcium, respectively.
- Conditions
- Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, Pseudohypoparathyroidism
- Trial name
- NCT02551120
- Where
- Denmark
- Volunteers
- 100 people
- Sponsor
- University of Aarhus
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.