Clinical trials: Abnormalities
GM2 Gangliosidosis, Niemann-Pick Type C Disease
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study…
- Trial name
- PRISMA (NCT07399704)
- Testing
- AZ-3102
- Where
- 3 sites in Brazil
- Volunteers
- 21 people
- Sponsor
- Azafaros B.V.
Hemophilia A
An Observational Study to Learn More About How Well Damoctocog Alfa Pegol Works in Previously Treated Children With Hemophilia A
This is an observational study of children with mild, moderate, or severe hemophilia A who are receiving damoctocog alfa pegol, and are between 7 to <12 years of age at the time of enrolment.
- Trial name
- HEM-POWR Kids (NCT07088458)
- Testing
- Damoctocog alfa pegol (Jivi, Bay94-9027)
- Where
- 12 sites in United States, Brazil and 9 more
- Volunteers
- 40 people
- Sponsor
- Bayer
Patent Foramen Ovale, PFO
Lifetech Cera™ PFO Occluder Post-Market Clinical Follow-Up
The objective of this post-market registry is to assess the clinical use of the Lifetech Cera™ PFO Occluder in a real-world and on-label fashion.
- Trial name
- NCT05893758
- Testing
- The Cera™ PFO Occluder
- Where
- 5 sites in Poland
- Volunteers
- 94 people
- Sponsor
- Lifetech Scientific (Shenzhen) Co., Ltd.
Prader-Willi Syndrome, Sarcopenia
Ultrasound to Assess Sarcopenia in Prader Willi Syndrome
The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived…
- Conditions
- Prader-Willi Syndrome, Sarcopenia, Metabolic Syndrome
- Trial name
- PWS (NCT06448871)
- Testing
- Ultrasound assessment of the right lower extremity muscles, Dual-energy X-ray absorptiometry (DXA) scan
- Where
- Taiwan
- Volunteers
- 49 people
- Sponsor
- Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
Nose; Anomaly
Objective Assessment for Cleft Lip Nasal Deformity Correction
Rhinoplasty remains one of the most challenging procedures in plastic surgery, and patients with cleft lip nasal deformity pose an even greater challenge, in which biggest issue is to achieve caudal nose harmony and creation of…
- Trial name
- NCT03683199
- Testing
- Rhinoplasty
- Where
- Egypt
- Volunteers
- 1 people
- Sponsor
- Assiut University
Beta-thalassemia, Myelodysplastic Syndromes
Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias
The purpose of this study is to determine the effects of the oral iron chelator Deferasirox on liver iron content after one year of treatment in patients with iron overload from repeated blood transfusions.
- Conditions
- Beta-thalassemia, Myelodysplastic Syndromes, Fanconi Syndrome, Anemia, Diamond-Blackfan
- Trial name
- NCT00061763
- Testing
- Deferasirox
- Where
- 6 sites in United States
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH)
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation.
- Conditions
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- Trial name
- Gen-PoPH-CPSS (NCT07314814)
- Testing
- targeted gene panels analysis, whole genome analysis
- Where
- Switzerland
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Prof. Valérie Mc Lin
Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm
Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study
This phase Ib trial investigates the side effects of the combination of nivolumab and ipilimumab, and to see how well they work in treating patients with cancers that have come back (relapsed) or does not respond to treatment…
- Conditions
- Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm, Lynch Syndrome, Recurrent Lymphoma
- Trial name
- NCT04500548
- Testing
- Biospecimen Collection, Ipilimumab, Nivolumab
- Where
- 9 sites in United States, Canada
- Sponsor
- National Cancer Institute (NCI)
Hemophilia, Arthropathy of Knee
Evaluation of Static Postural Balance in Children With Hemophilia and Its Relationship With Joint Health
Hemophilia is a rare hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.Bleeding disorders mainly affect the musculoskeletal system.
- Conditions
- Hemophilia, Arthropathy of Knee, Arthropathy of Ankle or Foot
- Trial name
- NCT04406519
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Hypospadias
Liposomal Bupivacaine vs Standard Penile Block for Hypospadias Repair
The investigator proposes a prospective randomized study of males with hypospadias to either bupivacaine penile block or liposomal bupivacaine block for hypospadias repair, Figure 3.
- Trial name
- NCT04479371
- Testing
- Liposomal bupivacaine, Bupivacaine
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Coarctation of the Aorta, Tetralogy of Fallot
Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance
The purpose of this study is to determine whether patients with repaired congenital heart disease show differences in size or function of their heart atria compared to normal controls and depending on the nature of their heart…
- Conditions
- Coarctation of the Aorta, Tetralogy of Fallot, Transposition of the Great Arteries
- Trial name
- NCT02161471
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Coronary Artery Anomaly, Congenital
Observational Study for Feasibility and Performance of Sub-millisievert Coronary Computed Tomography Angiography (CCTA) for Coronary Artery Anomalies (CAA) in Paediatric Patients
Congenital heart defects are the most frequent manifestation of congenital diseases (8 per 1000 live births). Imaging modalities play an increasing role in their diagnosis, follow-up, and pre/post-surgery check-up.
- Trial name
- COROPEDIA (NCT03194763)
- Testing
- coronary angiography
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Montpellier
Hypospadias
Identification of Hypospadias Parameters Using Digital Photography and Artificial Intelligence
The goal of this observational study is to develop and validate a digital pattern recognition system based on artificial neural network to determine various parameters in hypospadias.
- Trial name
- ASHOKA (NCT05569863)
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Rett Syndrome
The Rett Syndrome Global Registry
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome.
- Trial name
- NCT04900493
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Rett Syndrome Research Trust
Pes Planus
Sensorimotor Technique on Navicular Drop in School Going Children
The goal of the study is to determine effects of sensorimotor technique (SMT) program with short foot exercises on navicular drop and foot posture in school going children in both male and female students of age 7-12.
- Trial name
- NCT07576504
- Testing
- sensorimotor technique, short foot exercise
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
Pediatric Glaucoma, Elevated IOP in Pediatric Patients
Study of Travoprost Ophthalmic Solution, 0.004% Compared to Timolol (0.5% or 0.25%) in Pediatric Glaucoma Patients
The purpose of this study is to evaluate the intraocular pressure (IOP)-lowering efficacy of Travoprost 0.004% POLYQUAD (PQ) ophthalmic solution compared to Timolol ophthalmic solution (0.5% or 0.25%) in pediatric glaucoma…
- Conditions
- Pediatric Glaucoma, Elevated IOP in Pediatric Patients, Ocular Hypertension in Pediatric Patients
- Trial name
- NCT01652664
- Testing
- Travoprost 0.004% PQ ophthalmic solution, Timolol, 0.5% or 0.25% ophthalmic solution, Travoprost Vehicle
- Volunteers
- 184 people
- Sponsor
- Alcon Research
Mucolipidosis Type IV
Mucolipidosis Type IV Natural History Study
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the…
- Trial name
- NCT05782387
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust