Clinical trials: Functional Deformity
MPS I, MPS IV A
Cardiac Structure and Function in MPS
The purpose of this study is to better understand how heart and blood vessel problems develop in people with Mucopolysaccharidosis (MPS).
- Conditions
- MPS I, MPS IV A, MPS - Mucopolysaccharidosis, MPS IVA
- Trial name
- NCT07361536
- Where
- 3 sites in United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Orange County
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Longitudinal Studies of Brain Structure and Function in MPS Disorders
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV
- Trial name
- NCT01870375
- Where
- 4 sites in United States, Canada
- Volunteers
- 100 people
- Sponsor
- University of Minnesota
Cystic Fibrosis
Pilot Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis and Residual CFTR Function
This study is a multiple within participant crossover study to evaluate the effect of ivacaftor on lung function in participants aged 12 years and older with cystic fibrosis (CF) who have phenotypic or molecular evidence of…
- Trial name
- NCT01685801
- Testing
- Ivacaftor
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Hemophilia
Outcomes of Prophylaxis and On-demand Treatment for Severe Hemophiliacs and Collection of Baseline Data in Hemophiliacs in Taiwan
Primary prophylaxis in severe hemophiliacs is defined that prophylaxis therapy starts before 2 years of age and prior to any clinically evident joint bleeding or after first joint bleeding and prior to the onset of joint damage…
- Trial name
- NCT02908243
- Testing
- collection of baseline data
- Volunteers
- 350 people
- Sponsor
- Taiwan Society of Thrombosis and Hemostasis
Fontan Procedure, Hypoplastic Left Heart Syndrome
Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients
In this study, investigators will evaluate the effect of vitamin C on endothelial function, exercise tolerance and quality of life in patients with a single ventricle who have been palliated to Fontan physiology.
- Conditions
- Fontan Procedure, Hypoplastic Left Heart Syndrome, Tricuspid Atresia
- Trial name
- NCT00974025
- Testing
- Vitamin C
- Where
- United States
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Pes Planus, Pronated Foot
Effect of Trunk Stabilization on Pronated Feet
the purpose of this study is to investigate The effect Trunk stabilization on dynamic balance and foot function of pronated foot posture.
- Trial name
- NCT07734168
- Testing
- trunk stabilization exercise, pronated foot posture exercise
- Where
- Egypt
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Kafrelsheikh University
Down Syndrome
Effects of Task-oriented Training on Visual-motor Integration and Upper Limb Function in Children With Down Syndrome
The condition known as Down Syndrome (DS) is caused by trisomy 21, or the presence of an extra copy of chromosome 21. DS is the most common survivable autosomal aneuploidy and one of the genetically complicated problem compatible…
- Trial name
- NCT06943261
- Testing
- task oriented training, conventional therapy
- Volunteers
- 28 people
- Sponsor
- Riphah International University
Flatfoot, Flexible, Pes Valgus
Physiotherapy Program Effect on Musculoskeletal Dysfunctions in Young Football Players
The goal of this clinical study is to test the proposed physiotherapy exercise program in young football players. The main question it aims to answer is: Does the proposed physiotherapy program work well in improving young…
- Conditions
- Flatfoot, Flexible, Pes Valgus, Pes Varus, Balance; Distorted
- Trial name
- NCT05798988
- Testing
- Neurophysiology-based exercise program
- Where
- Czechia
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Charles University, Czech Republic
Tuberous Sclerosis
A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis
This is a single centre, two-arm, individually randomised, Phase II, double- blind, placebo-controlled trial of RAD001 (Everolimus) versus placebo in the treatment of neurocognitive problems in patients with tuberous sclerosis…
- Trial name
- TRON (NCT01954693)
- Testing
- Everolimus (RAD001)
- Where
- United Kingdom
- Volunteers
- 48 people
- Sponsor
- Cardiff University
Down Syndrome
A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome
This non-drug, longitudinal, multi-center, multi-national study will evaluate the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in individuals with Down…
- Trial name
- NCT01580384
- Where
- 12 sites in United States, Argentina and 5 more
- Volunteers
- 90 people
- Sponsor
- Hoffmann-La Roche
Infantile Colics, Constipation
Randomized, Blinded, Placebo-Controlled Evaluation of BioAmicus Complete
This is a randomized, single-blind, placebo-controlled study to evaluate the efficacy of the dietary supplement BioAmicus Complete (oral drops; a mixture of 10 strains of lacto- and bifidobacteria) in managing functional…
- Conditions
- Infantile Colics, Constipation, Infantile Diarrhea, Atopic Dermatitis
- Trial name
- NCT07444008
- Testing
- BioAmicus Complete
- Where
- Russia
- Volunteers
- 140 people
- Sponsor
- NovoNatum Ltd
Epilepsy
Evaluation of Functional MRI and DTI (Imaging Techniques) in Children With Epilepsy and Focal Brain Lesions
This study is being done to look at the relationship between brain structure and brain function in patients with epilepsy or focal brain lesions (abnormal areas) that require surgery.
- Trial name
- NCT00229840
- Testing
- Functional MRI, Diffusion Tensor Imaging
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Children's Healthcare of Atlanta
Inflammatory Changes in Epithelial Lining Fluid Sampled Non-invasively by Nasal Lavage in CF Patients With G551D Receiving Kalydeco
Effects of Kalydeco on Upper Airway and Paranasal Sinus Inflammation Measured by Nasal Lavage and on Symptoms
The aim of the proposed trial in assessment of effects of Kalydeco™ treatment on sinonasal involvement in CF patients with at least one mutation of G551D receiving a new therapy with the CFTR potentiator.
- Trial name
- KPNSI (NCT02311140)
- Testing
- nasal lavage (routine diagnostic procedure in our centre), assessment of symptoms
- Where
- Germany
- Volunteers
- 10 people
- Sponsor
- University of Jena
Neurocognitive Deficit, Mental Health Impairment
Intervention Effectiveness on the Neurocognitive Functioning of Children and Adolescents With Neurofibromatosis Type 1
Children with neurofibromatosis are more likely to have difficulties related to their psychological and neurocognitive functioning (e.g., more likely to have depression, have social difficulties, be diagnosed with ADHD).
- Conditions
- Neurocognitive Deficit, Mental Health Impairment, Neurofibromatosis 1
- Trial name
- OPTIMAL-SSI (NCT05377008)
- Testing
- OPTIMAL-SSI
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Virginia Commonwealth University
Cystic Fibrosis
Gut Imaging for Function & Transit in Cystic Fibrosis Study 1
Many people with Cystic Fibrosis (CF) are troubled by symptoms from their stomach and bowels: their gastrointestinal (GI) tract.
- Trial name
- GIFT-CF1 (NCT03566550)
- Testing
- MRI scans
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Nottingham University Hospitals NHS Trust
Turner Syndrome
Risk of Diabetes in Young Turner Syndrome Patients
Turner Syndrome is a common genetic disorder. Seventy percent of adults with Turner Syndrome have abnormalities in glucose metabolism which can lead to diabetes.
- Trial name
- NCT02160717
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Cystic Fibrosis
A Study Evaluating Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis and F/MF Genotypes
This study will evaluate the efficacy and safety of elexacaftor (ELX) / tezacaftor (TEZ) / ivacaftor (IVA) triple combination (TC) in subjects 6 through 11 years of age with cystic fibrosis (CF) who are heterozygous for F508del…
- Trial name
- NCT04353817
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 121 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Familial Mediterranean Fever (FMF ), Exercise
Comparison of the Effects of Synchronous and Asynchronous Telerehabilitation in Patients with Juvenile Familial Mediterranean Fever
Our study will be randomized controlled. Familial Mediterranean Fever patients between the ages of 12-18 will be included in the study and will be divided into 2 groups.
- Conditions
- Familial Mediterranean Fever (FMF ), Exercise, Telerehabilitation
- Trial name
- NCT06743152
- Testing
- Synchronous exercise program, Asynchronous exercise group
- Where
- Turkey (Türkiye)
- Volunteers
- 52 people
- Sponsor
- Istanbul University - Cerrahpasa
Lymphedema, Lymphatic Disorders
Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders
The purpose of this study is to demonstrate the feasibility of near-infrared fluorescence imaging in subjects with acquired or hereditary lymphedema, in subjects with lipidema and other lymphovascular disorders and in normal…
- Conditions
- Lymphedema, Lymphatic Disorders, Lipedema, Vascular Malformation
- Trial name
- NCT00833599
- Testing
- NIRFLI with ICG
- Where
- 3 sites in United States
- Volunteers
- 283 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston