Clinical trials: Abnormalities
Pseudoxanthoma Elasticum
A Study of DS-1211b in Individuals With PseudoXanthoma Elasticum
This study was designed to evaluate the safety, tolerability, pharmacodynamics (PD) of DS-1211b, and pharmacokinetics (PK) in individuals with Pseudoxanthoma elasticum (PXE).
- Trial name
- NCT05569252
- Testing
- DS-1211b
- Where
- 7 sites in United States, Netherlands
- Volunteers
- 65 people
- Sponsor
- Daiichi Sankyo
46, XY DSD
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Observational exploratory study of a cohort of pediatric and adolescent patients diagnosed with DSD karyotype 46,XY, a rare congenital clinical condition characterized by a disharmonic development between chromosomal sex, gonadal…
- Trial name
- NCT06723938
- Where
- 4 sites in Italy
- Volunteers
- 520 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Sickle Cell Disease
Music Therapy in Sickle Cell Transition Study
The purpose of this study is to investigate the effects of the BEATS Music Therapy Program on the self-efficacy, trust, knowledge, and adherence of young adult patients with sickle cell disease during transition.
- Trial name
- NCT02466555
- Testing
- Music Therapy
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University Hospitals Cleveland Medical Center
Hemophilia A, Hemophilia B
Study of Ataluren (PTC124) in Hemophilia A and B
Hemophilia A (HA) and hemophilia B (HB) are inherited bleeding disorders caused by mutations in the gene for factor VIII (FVIII) and factor IX (FIX), respectively. These proteins are essential for blood clotting.
- Trial name
- NCT00947193
- Testing
- Ataluren
- Where
- 13 sites in United States, Canada and 2 more
- Volunteers
- 13 people
- Sponsor
- PTC Therapeutics
Congenital Diaphragmatic Hernia
Smart Removal for Congenital Diaphragmatic Hernia
The purpose of this study is to demonstrate the ability to prenatally deflate and to evaluate the safety of the Smart-TO device for fetoscopic endoluminal tracheal occlusion (FETO) in fetuses with congenital diaphragmatic hernia…
- Trial name
- SmartRemoval (NCT05100693)
- Testing
- Fetoscopic Endoluminal Tracheal Occlusion with the Smart-TO Balloon
- Where
- Belgium
- Volunteers
- 25 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Spinocerebellar Ataxias, Spinocerebellar Ataxia Genotype Type 1
Trial in Adult Participants With Spinocerebellar Ataxia (SCA)
The primary purpose of this study was to compare the efficacy of BHV-4157 (Troriluzole) 140 milligrams (mg) once daily versus placebo after 8 weeks of treatment in participants with spinocerebellar ataxia (SCA).
- Conditions
- Spinocerebellar Ataxias, Spinocerebellar Ataxia Genotype Type 1, Spinocerebellar Ataxia Genotype Type 2, Spinocerebellar Ataxia Genotype Type 3
- Trial name
- NCT02960893
- Testing
- Troriluzole
- Where
- 18 sites in United States
- Volunteers
- 141 people
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Iliac Vein Obstruction, May-Thurner Syndrome
Vascular Ultrasound Versus Intravascular Ultrasound for Diagnosing Iliac Vein Obstruction
Determine the sensitivity, specificity and accuracy of vascular ultrasound, using direct and indirect ultrasonographic signs, in the obstructive diseases of iliac venous segment, in patients with advanced chronic venous…
- Conditions
- Iliac Vein Obstruction, May-Thurner Syndrome, Cockett Syndrome
- Trial name
- USG-DIVO (NCT02240914)
- Where
- Brazil
- Volunteers
- 50 people
- Sponsor
- Fabio H Rossi
Neonatal Jaundice
The Effect of Skin Color Scale Material Used by Families at Home in the Postnatal Period on the Process of Hospital Admission Due to Jaundice and Breastfeeding Parameters
The aim of this research is to evaluate the effect of the Skin Color Scale Material used by families in the postnatal period on the hospital admission process due to jaundice and breastfeeding parameters.
- Trial name
- NCT07386093
- Testing
- Experiment Group, control group
- Volunteers
- 128 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Scoliosis Idiopathic Adolescent, Scoliosis Idiopathic Adolescent Treatment
Family Education for Individuals With Adolescent Idiopathic Scoliosis
Yağmur KİRMİK, Investigation of the Effect of Family Education on Stress, Deformity Perception, Quality of Life, and Treatment Adherence in Individuals with Adolescent Idiopathic Scoliosis, Hasan Kalyoncu University, Graduate…
- Trial name
- NCT07714993
- Testing
- PSSE, individual/family education
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people
- Sponsor
- Hasan Kalyoncu University
Cystic Fibrosis
Airway Clearance for Pediatric and Adult Cystic Fibrosis Patients Using a Portable Intra-Pulmonary Percussion Device
This is a pilot study where the investigators aim to compare initial use of the standard airway clearance device (SACD), most commonly used being High frequency vest airway clearance system (VEST) with subsequent use of a…
- Trial name
- NCT04743206
- Testing
- Standard Airway Clearance device, Portable Internal Airway Percussion device
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Florida
Sickle Cell Disease, Kidney Failure, Chronic
Kidney Function in Sickle Cell Anemia
This is a prospective clinical cohort study that involves a baseline study visit followed by up to 3 annual follow-up study visits for a total follow-up of 36-48 months to evaluate the age- and sex-adjusted rate of change in…
- Trial name
- NCT03277547
- Where
- 3 sites in United States
- Volunteers
- 300 people
- Sponsor
- Kenneth Ataga MD
Allergic Rhinitis, Asthma
The Significance of Ambrosia in Allergic Rhinitis and Asthma in Israel
Ambrosia is known for its allergenicity in the USA causing hay fever and asthma. Israel has always been considered "clean" of Ambrosia but over the past years growth of Ambrosia plants has been detected in several locations in…
- Conditions
- Allergic Rhinitis, Asthma, Allergic Conjunctivitis, Atopic Dermatitis
- Trial name
- NCT01686048
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Meir Medical Center
Fetal Growth Retardation, Pregnancy Related
Pentaerithrityl Tetranitrate (PETN) for Secondary Prevention of Intrauterine Growth Restriction
Approximately 10% of all pregnancies experience mal perfusion of the placenta resulting in fetal growth restriction (FGR) of the fetus. FGR is the most important cause of perinatal mortality and morbidity.
- Conditions
- Fetal Growth Retardation, Pregnancy Related, Intrauterine Growth Restriction
- Trial name
- PETN (NCT03669185)
- Testing
- Pentalong
- Where
- 14 sites in Germany
- Volunteers
- 324 people
- Sponsor
- Jena University Hospital
Coronary Artery Disease, Heart Failure
Stress Echo 2030: the Novel ABCDE-(FGLPR) Protocol to Define the Future of Imaging
With stress echo (SE) 2020 study, a new standard of practice in stress imaging was developed and disseminated: the ABCDE protocol for functional testing within and beyond CAD.
- Conditions
- Coronary Artery Disease, Heart Failure, Hypertrophic Cardiomyopathy, Congenital Heart Disease
- Trial name
- SE2030 (NCT05081115)
- Testing
- ABCDE-Stress Echo, SE diastolic assessment, SE Right ventricular function assessment
- Where
- Italy
- Volunteers
- 10,000 people
- Sponsor
- Fatebenefratelli Hospital
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Chronic Obstructive Pulmonary Disease, Foot Deformities
The Effect of Foot Deformities on Physical Activity, Fatigue Level and Quality of Life in Elderly COPD Patients
The aim of this study is to investigate the effects of changes in foot structure on physical activity level, fatigue and quality of life in COPD patients.
- Conditions
- Chronic Obstructive Pulmonary Disease, Foot Deformities, Quality of Life, Activity, Motor
- Trial name
- NCT04627935
- Testing
- The COPD Assessment Test, Navicular Drop Test, International Physical Activity Questionnaires (IPAQ)
- Where
- Turkey (Türkiye)
- Volunteers
- 77 people
- Sponsor
- Sultan Abdulhamid Han Training and Research Hospital, Istanbul, Turkey
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Cystic Fibrosis
Cystic Fibrosis Adherence Study
This study aims to assess the role of some factors which can influence the chest physiotherapy adherence in adult with cystic fibrosis. At first, we are going to try to consider the adherence of chest physiotherapy.
- Trial name
- KINOBS (NCT04217889)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 197 people
- Sponsor
- Hospices Civils de Lyon
Premature Infant, Patent Ductus Arteriosus
Non-Invasive Detection of Tissue Oxygen Deprivation in Premature Infants With Patent Ductus Arteriosus.
The proposed research evaluates tissue oxygenation (StO2) as measured by resonance raman spectroscopy (RRS) in premature infants with and without patent ductus arteriosus (PDA).
- Conditions
- Premature Infant, Patent Ductus Arteriosus, Hemodynamic Instability
- Trial name
- NCT03277768
- Testing
- Resonance Raman Spectroscopy (RRS)
- Where
- 2 sites in United States
- Volunteers
- 55 people
- Sponsor
- University of Florida
Congenital Heart Disease
Assessment of Patterns of Patient Reported Outcomes in Adults With Congenital Heart Disease - International Study II
This is an international, cross-sectional and descriptive study that aims to investigate differences in patient-reported outcome measures (PROMs) and patient-reported experience measures (PREMs) and that aims to explore the…
- Trial name
- APPROACH-IS II (NCT04902768)
- Testing
- This is an observational study, there is no intervention
- Where
- 53 sites in United States, Argentina and 30 more
- Volunteers
- 8,415 people
- Sponsor
- KU Leuven