Clinical trials: Functional Deformity
Osteogenesis Imperfecta
Increasing Knowledge on Osteogenesis Imperfecta by Collecting Epidemiological Data
interventional pilot study with the enrollment of patients affected by Osteogenesis Imperfecta
- Trial name
- 4FRAILTY (NCT06193642)
- Testing
- experimental
- Where
- Italy
- Volunteers
- 33 people
- Sponsor
- Istituto Ortopedico Rizzoli
Down Syndrome
Effects of Dohsa Hou Exercises on Functional Mobility
Trisomy 21 is a condition where there's an extra chromosome 21, which leads to a set of clinical signs called Down syndrome. Down syndrome is one of the most complicated genetic conditions that can occur post-term and is the most…
- Trial name
- NCT06131099
- Testing
- Dohsa hou exercises, Standard treatment protocal
- Where
- Pakistan
- Volunteers
- 34 people
- Sponsor
- Riphah International University
Lung Ultrasound, Respiratory Distress Syndrome, Newborn
Bedside Ultrasound to Monitor Lung Function and Blood Flow in Newborns Treated With Surfactant
The ULISSES study looks at how doctors use bedside ultrasound to help treat premature babies with breathing problems caused by Respiratory Distress Syndrome (RDS).
- Trial name
- ULISSES (NCT07070167)
- Testing
- Intratracheal administration of surfactant
- Where
- 2 sites in Poland
- Volunteers
- 200 people
- Sponsor
- Chiesi Poland Sp. z o.o.
Cystic Fibrosis
Mechanisms for Vascular Dysfunction and Exercise Tolerance in CF
Cystic fibrosis has many health consequences. A reduction in the ability to perform exercise in patients with CF is related to greater death rates, steeper decline in lung function, and more frequent lung infections.
- Trial name
- CF-AOX (NCT02690064)
- Testing
- Acute Antioxidant, Chronic Antioxidant
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Augusta University
Cystic Fibrosis
Study to Evaluate Biological & Clinical Effects of Significantly Corrected CFTR Function in Infants & Young Children
This is a two-part, multi-center, prospective longitudinal, exploratory study of highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators and their impact on children with cystic fibrosis (CF).
- Trial name
- BEGIN (NCT04509050)
- Testing
- Ivacaftor or elexacaftor/tezacaftor/ivacaftor
- Where
- 35 sites in United States
- Volunteers
- 210 people
- Sponsor
- Sonya Heltshe
Osteogenesis Imperfecta
Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility
Children with osteogenesis imperfecta (OI) have impaired bone strength, fractures, weak muscles and limited mobility. Mild to moderate forms of OI (type 1 and 4) may benefit from muscle training that leads to secondary…
- Trial name
- NCT03029312
- Testing
- Galileo M
- Where
- United Kingdom
- Volunteers
- 24 people
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Muscular Dystrophy, Duchenne, Orthotic Devices
The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder
The goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with neuromuscular disorder.
- Conditions
- Muscular Dystrophy, Duchenne, Orthotic Devices, Upper Extremity, Neuromuscular Diseases (NMD)
- Trial name
- NCT06363357
- Testing
- Shoulder orthosis
- Where
- South Korea
- Volunteers
- 8 people
- Sponsor
- Seoul National University Hospital
Genetic Disease, Chopra-Amiel-Gordon Syndrome
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the…
- Conditions
- Genetic Disease, Chopra-Amiel-Gordon Syndrome, CAGS, ANKRD17
- Trial name
- CAGS NHS (NCT05528744)
- Testing
- Observational Study, Sample collection only
- Where
- United States
- Volunteers
- 125 people
- Sponsor
- Boston Children's Hospital
Cystic Fibrosis
Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa
This is a study to examine the safety, effect on lung function, and frequency of symptoms relating to cystic fibrosis during 24 weeks of treatment with the antibiotic azithromycin in 6-18 year-olds with CF who are not infected…
- Trial name
- NCT00431964
- Testing
- azithromycin 250 mg tablets
- Where
- 40 sites in United States, Canada
- Volunteers
- 263 people
- Sponsor
- CF Therapeutics Development Network Coordinating Center
Cystic Fibrosis
Do Musculoskeletal Techniques Improve Forced Expiratory Volume in One Second in Adults With Cystic Fibrosis?
The pilot study aims to evaluate the effects of a treatment series of gentle joint and muscle movements (in addition to normal optimal care)on lung function, exercise capacity and posture in stable adults with cystic fibrosis.
- Trial name
- NCT00716664
- Testing
- A treatment series of gentle joint and muscle movements, Control group measurements
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Hereditary Diseases, Cholestasis, Intrahepatic
BSEP Function Rescue During Childhood Inhereditary Cholestatic Diseases
The purpose of the study is to improve the prognosis of inhereditary cholestasis caused by ABCB11 gene mutations by using BSEP function rescue drugs
- Trial name
- NCT04531878
- Testing
- 4-Phenylbutyrate
- Sponsor
- Children's Hospital of Fudan University
Transposition of Great Vessels
Fibrosis, Valvular and Ventricular Function in Patients With TGA
The aim of this project is to better evaluate the systemic right ventricular (RV) function in patients with transposition of the great arteries (TGA).
- Trial name
- NCT02588989
- Where
- Belgium
- Volunteers
- 37 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Arthrogryposis Multiplex Congenita, Piezo2 Mutation Gain of Function
Piezo2-related Arthrogryposis & physiopathOLOgy 3
Study type: Observational, non-interventional, single-center, descriptive study. Goal of the study: The goal of this observational study is to characterize the intensity, variability, and qualitative features of pain in patients…
- Trial name
- PAOLO3 (NCT07360574)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- University Hospital, Grenoble
Cystic Fibrosis
Novel Point-of-care Sweat Chloride Testing Device for Monitoring CFTR Function
This study is being done to test a device called micro Sweat Test Patch (mSTP or µSTP). The study team will compare the standard of care (SOC) method of sweat testing with a novel sweat test technique using an integrated micro…
- Trial name
- SWEAT CF (NCT07414810)
- Testing
- micro Sweat Test Patch (mSTP), Sweat Testing using SOC
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- Emory University
Mucopolysaccharidosis IV Type A, Morquio A Syndrome
Non-invasive Functional Assessment and Pathogenesis of Morquio A
Morquio A disease is a devastating systemic skeletal disease in which detailed progression and pathogenesis remain unknown. The proposed project aims to establish a non-invasive objective assessment that can be applicable to all…
- Conditions
- Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA
- Trial name
- NIFAMA (NCT05284006)
- Testing
- Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Nemours Children's Clinic
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
Congenital Diaphragmatic Hernia
Measurement of Lung Area at Chest Radiography to Define the Prognosis in Newborns With CDH
CDH represents a malformative disorder characterized by an incomplete diaphragm formation. This results in poor lung development (pulmonary hypoplasia), associated with altered vascularization of the lung (pulmonary…
- Trial name
- NeoAPACHE (NCT04396028)
- Testing
- data collection
- Where
- Italy
- Volunteers
- 85 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Gaucher Disease Type 3
Effect of Enzyme Replacement Therapy on Cardiac Function in Children With Gaucher Disease Type 3
all cases confirmed diagnosis of Gaucher disease type 3 recieving enzyme replacement therapy at Assiut university hospital
- Trial name
- NCT06627543
- Testing
- echo
- Where
- Egypt
- Volunteers
- 44 people
- Sponsor
- Noha Osman
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI
Randomized, double-blind, placebo-controlled, parallel-group, single-center study followed by open-label phase, to evaluate the effects of adalimumab compared to placebo on the change from baseline in joint and skeletal disease…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT03153319
- Testing
- Adalimumab Injection [Humira], Saline Solution for Injection
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Abnormalities, Imaging
MRI Study of Musculoskeletal Function
This study will use magnetic resonance imaging (MRI) and ultrasound images to study how muscles, tendons, and bones work together to cause motion.
- Conditions
- Abnormalities, Imaging, Patellofemoral Pain Syndrome
- Trial name
- NCT00051857
- Where
- United States
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)