Clinical trials: Hereditary Disease
Lipid Metabolism, Inborn Errors
Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases
To test whether active pneumococci immunization can alleviate inflammation and improve cholesterol metabolism in lysosomal lipid storage diseases and associated metabolic disorders.
- Trial name
- NCT02707211
- Testing
- Anti-oxLDL IgM antibody
- Where
- Belgium
- Volunteers
- 20 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Spinocerebellar Ataxia
Wearable Gait Sensors
This research study is testing body-worn sensors to measure movement during simple tests of coordination, in order to evaluate the progression and severity of Spinocerebellar ataxia.
- Trial name
- NCT06628934
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Glanzmann Thrombasthenia
A Phase 1/2 Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of HMB-001 in Glanzmann Thrombasthenia
The goal of this clinical trial is to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of HMB-001 in Participants with Glanzmann Thrombasthenia.
- Trial name
- NCT06211634
- Testing
- HMB-001
- Where
- 17 sites in United States, Belgium and 4 more
- Volunteers
- 57 people
- Sponsor
- Hemab ApS
Multiple Anomalies, Dysmorphic Features
Evaluating Face-Recognition Technology in Syndrome Diagnosis
Birth defects are relatively common, occurring in 1 in 40 live born babies. They can be single, or multiple. They may occur as part of multiple malformation syndromes, often in association with growth disturbance or intellectual…
- Conditions
- Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism
- Trial name
- NCT04709965
- Testing
- Face2Gene
- Where
- United Kingdom
- Volunteers
- 111 people
- Sponsor
- Manchester University NHS Foundation Trust
Minimally Invasive Pediatric Cardiac Surgery, Pediatric Cardiac Surgery
Precision TOF-Guided Sugammadex Versus Spontaneous Recovery for Early Extubation in Minimally Invasive Pediatric Cardiac Surgery
This prospective observational cohort study evaluates a precision neuromuscular management strategy in pediatric patients undergoing minimally invasive cardiac surgery (MICS).
- Conditions
- Minimally Invasive Pediatric Cardiac Surgery, Pediatric Cardiac Surgery, Early Extubation Pathway, TOF-Guided Sugammadex Administration
- Trial name
- TOF (NCT07798011)
- Testing
- Sugammadex
- Where
- Vietnam
- Volunteers
- 80 people
- Sponsor
- Dr. Nguyen Thi Thu Hang
Infant Development, Sensory Disorder
The Prechtl's General Movement Assessment, Hammersmith Infant Neurological Examination and Sensory Profile-2
In the Neonatal Intensive Care Unit (NICU), infants encounter many sensory stimuli (excessive noise, bright lights, painful medical applications, etc.) that are not present in the uterus.
- Conditions
- Infant Development, Sensory Disorder, Sensory Processing Disorder, Motor Delay
- Trial name
- highrisk (NCT05217199)
- Testing
- Measurements
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Kahramanmaras Sutcu Imam University
Cystic Fibrosis
A Study to Investigate Lung Deposition of Radiolabelled OligoG
OligoG is a new potential treatment which is being developed by AlgiPharma AS (a Norwegian-based company) with an aim to help people with cystic fibrosis in the future.
- Trial name
- NCT01991028
- Testing
- Radiolabelled OligoG CF-5/20 DPI, Radiolabelled OligoG CF-5/20 6% Solution
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- BDD Pharma Ltd
Atopic Dermatitis
Apremilast 30 mg Twice Daily (BID) Combined With Dupilumab
Open label phase 2 investigational study of efficacy and safety of apremilast 30 mg twice a day (BID) in chronic atopic dermatitis when added to the FDA approved treatment dupilumab for atopic dermatitis that is not providing…
- Trial name
- NCT04306965
- Testing
- Apremilast
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Tufts Medical Center
Long QT Syndrome
LQT and Smartphone/Smartwatch
Congenital long QT syndrome (LQTS) is a rare genetic disorder characterized by prolongation of the corrected QT interval (QTc) on the electrocardiogram.
- Trial name
- SMART-QT (NCT04728100)
- Testing
- LQT
- Where
- France
- Volunteers
- 111 people
- Sponsor
- Hospices Civils de Lyon
Bicuspid Aortic Valve
Identification of Genetic Causes of Bicuspid Aortic Valve Disease
BAVgenetics is a partnership between Investigators at Boston University, Brigham and Women's Hospital, and Massachusetts General Hospital dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated…
- Trial name
- BAV Genetics (NCT01026571)
- Where
- United States
- Volunteers
- 11,000 people, healthy volunteers welcome
- Sponsor
- Boston University
Arginase I Deficiency, Hyperargininemia
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102.
- Trial name
- NCT02488044
- Testing
- AEB1102
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Aeglea Biotherapeutics
Cystic Fibrosis
Development Of An Innovative Panel of Methods To Measure Intestinal Macronutrient Digestion, Absorption, and Function
Malnutrition is a significant problem in children and adults with Cystic fibrosis (CF). An impaired intestinal digestion and absorption capacity is one of the main factors responsible for the malnutrition in CF.
- Trial name
- NCT01494909
- Testing
- Ensure plus
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Texas A&M University
Fractures, Bone, Deformity; Bone
Virtual Reality Distraction During Outpatient Pediatric Orthopedic Procedures
Virtual Reality(VR) has had promising applications in science and medicine, including intervention delivery. The use of VR interventions has been studied in a wide range of medical conditions, including anxiety, phobias, obesity…
- Trial name
- NCT05510232
- Testing
- A treatment group that will watch a non-VR video via an iPad, A treatment group that will have headset on and will watch a non-VR video, A treatment group that will be immersed in the VR game (Bear Blast) via the headset.
- Where
- United States
- Volunteers
- 226 people
- Sponsor
- Hospital for Special Surgery, New York
Gaucher Disease, Bone Diseases
Biomarkers Related to Bone in Pediatric Gaucher Disease
Aims of the observational study is to establish novel blood-based biomarkers for grading bone disease in pediatric patients with Gaucher disease (GD).
- Trial name
- NCT06116071
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Sickle Cell Anemia, Retinopathy
Ranibizumab for Neovascularization in Sickle Cell Retinopathy
The purpose of this study is to determine the ocular and non-ocular safety of a single dose of ranibizumab in treating neovascularization secondary to sickle cell retinopathy.
- Trial name
- NCT00618644
- Testing
- Ranibizumab
- Where
- United States
- Sponsor
- Kresge Eye Institute
Cystinuria, Renal Lithiasis
Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria
It has recently been described the presence of a urinary inflammatory signature in patients with cystinuria, the most common cause of renal lithiasis of genetical origin.
- Conditions
- Cystinuria, Renal Lithiasis, Glomerulonephritis, Interstitial Nephritis
- Trial name
- NCT03836144
- Testing
- Potassium citrate
- Where
- France
- Volunteers
- 63 people
- Sponsor
- European Georges Pompidou Hospital
Hypofibrinogenemia, Afibrinogenemia
Human Fibrinogen Concentrate in Pediatric Cardiac Surgery
The goal of the study is to determine whether the use of Human Fibrinogen Concentrate (RiaSTAP) will decrease blood loss and the need for component blood therapy in neonates and infants undergoing cardiopulmonary bypass.
- Conditions
- Hypofibrinogenemia, Afibrinogenemia, Bleeding Disorders
- Trial name
- RiaSTAP (NCT02822599)
- Testing
- RiaStAP, Saline
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicklaus Children's Hospital f/k/a Miami Children's Hospital
Kyphoscoliosis
Indication and Treatment of Adult Kyphoscoliosis
Degeneration, iatrogenic-/idiopathic causes and fractures can lead to kypho- scoliotic deformities potentially resulting in pain and loss of function.
- Trial name
- INTRAKS (NCT04536909)
- Testing
- Non-surgical, Surgical
- Where
- 5 sites in Japan, Norway and 1 more
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Bergen
Childhood Langerhans Cell Histiocytosis, Leukemia
Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia
RATIONALE: Umbilical cord blood or placental blood transplantation may be able to replace immune cells that were destroyed by the chemotherapy or radiation therapy that was used to kill cancer cells.
- Conditions
- Childhood Langerhans Cell Histiocytosis, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm
- Trial name
- NCT00008164
- Testing
- umbilical cord blood transplantation
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Herbert Irving Comprehensive Cancer Center
Arteriovenous Fistula, Arteriovenous Graft
A Randomised Trial Comparing Supraclavicular Block vs Supraclavicular and Pecs II Block in Arteriovenous Grafting
This study evaluates the addition of Pecs II block to ultrasound-guided supraclavicular brachial plexus block in patients undergoing arteriovenous graft creation surgery.
- Conditions
- Arteriovenous Fistula, Arteriovenous Graft, Kidney Failure, Chronic, Renal Failure, End-stage
- Trial name
- NCT02331030
- Testing
- Supraclavicular, Pecs II block, Ropivacaine 0.5% 20ml
- Where
- Singapore
- Volunteers
- 36 people
- Sponsor
- Changi General Hospital