Clinical trials: Malformations
Spina Bifida
Effects of Progressive Resistance Exercise Training on Endurance and Functional Mobility in Children With Spina Bifida
In this research the effects of progressive resistance exercise training on endurance and functional mobility in children with spina bifida are assessed.
- Trial name
- NCT05719636
- Testing
- Conventional treatment, Progressive resistance exercise
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Brain Malformation
Comparison of Abnormal Cortical Development in Brain Malformations on Postmortem Imaging With Autopsy
Examination of the fetal brain at autopsy is technically challenging because of marked fragility of the brain tissue. Studies have found postmortem fetal MR to be particularly useful in examining gross structural abnormalities in…
- Trial name
- NCT00686530
- Testing
- MR Imaging, Autopsy
- Where
- 2 sites in Canada
- Sponsor
- The Hospital for Sick Children
Spina Bifida
Evaluation of muLtimodal and Non-invasive SPINa Bifida Neurovessels During Prospective Follow-up
The aim of the study is to investigate known urinary biomarkers in order to determine whether they can be predictive of a risk of damage to the upper urinary tract and therefore the kidneys in patients with spina bifida.
- Trial name
- SPINLESS (NCT06041334)
- Testing
- Collection of a urine sample, Magnetic Resonance Imaging of the bladder
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Rennes University Hospital
Myelomeningocele Spina Bifida, Spina Bifida, Open
Effectiveness of Multimodal Therapy for Urinary Incontinence in Pediatric Spina Bifida
Background: Overactive bladder and urinary incontinence in children have significant influence on psychosocial well-being and quality of life.
- Trial name
- MMICIUISP (NCT07338799)
- Testing
- Diet and Toileting Education, Pelvic Floor Physiotherapy, Abdominal Strengthening Program.
- Where
- Egypt
- Volunteers
- 66 people
- Sponsor
- Cairo University
Zika Virus, Pregnancy Related
ZIKAlliance Pregnant Women Cohort
The aim of this proposal is to evaluate the causal relationship between Zika virus (ZIKV) infections in pregnancy and congenital malformations.
- Trial name
- ZIKAlliancePW (NCT03188731)
- Where
- 14 sites in Bolivia, Brazil and 5 more
- Volunteers
- 3,852 people, healthy volunteers welcome
- Sponsor
- University of Heidelberg Medical Center
Congenital Heart Defect, Single-ventricle
NIRS in Congenital Heart Defects - Correlation With Echocardiography
Neonatal patients with congenital heart defects (CHD) have changing physiology in the context of transitional period. Patients with CHD are at risk of low perfusion status or abnormal pulmonary blood flow.
- Conditions
- Congenital Heart Defect, Single-ventricle, Coarctation of Aorta, Atrioventricular Canal
- Trial name
- NCT04106479
- Testing
- NIRS evaluation
- Where
- Canada
- Volunteers
- 100 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A
Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study
This cohort study (participants with CMT and control participants) has two parts (Part 1: CMT1A cohort; Part2: CMT1B, CMT2A and CMTX1 cohort) and is proposed to take place over 3 years across three sites.
- Conditions
- Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth Disease, Type X
- Trial name
- NCT03550300
- Where
- United Kingdom
- Volunteers
- 130 people
- Sponsor
- University College, London
Hereditary Spastic Paraplegia
Robot-assisted Walking Treatment in Hereditary Spastic Paraplegia (HSP)
Patients will undergo a combined rehabilitation treatment consisting of 15 sessions on Lokomat and 15 sessions of physical therapy over three weeks for a total of 30 sessions. Two sessions/day for 5 days a week.
- Trial name
- NCT06728787
- Testing
- Robot-Assisted Gait Training
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- IRCCS Eugenio Medea
Cerebral Arteriovenous Malformations
Evaluation of ONYX in ENDOVASCULAR Treatment of Cerebral AVMs
To assess safety and efficacy of ONYX treatment for cAVM:
- Trial name
- cAVM (NCT02180958)
- Where
- 17 sites in France
- Volunteers
- 140 people
- Sponsor
- Medtronic Neurovascular Clinical Affairs
Tuberous Sclerosis Complex
Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France
This study aims to investigate the factors (clinical, care-related and genetic) affecting renal outcome in patients with TSC (Tuberous sclerosis complex)
- Trial name
- TSAR (NCT02887781)
- Where
- 2 sites in France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Brest
Cerebra-retinal Angiopathy
COL4A1 Gene Related Cerebra-retinal Angiopathy
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
- Trial name
- COL4A1 (NCT01097564)
- Testing
- COL4A1 genetic testing
- Where
- France
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Arteriovenous Fistula, Ultrasound
Relationship Between Arterial Variations and Patency of Arteriovenous Fistulae
In 2019, KDOQI considered that uremic patients with a life expectancy of more than one year should require hemodialysis as an effective renal replacement therapy before preparation of kidney transplantation.
- Conditions
- Arteriovenous Fistula, Ultrasound, Artery
- Trial name
- NCT04613115
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Beijing Tongren Hospital
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
Eighty percent of patients with tuberous sclerosis complex (TSC) have renal angiomyolipomata. These lesions grow and can lead to significant morbidity by hemorrhage or renal failure.
- Trial name
- NCT00598455
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Unruptured Brain Arteriovenous Malformation, Ruptured Brain Arteriovenous Malformation
Treatment of Brain AVMs (TOBAS) Study
The objectives of this study and registry are to offer the best management possible for patients with brain arteriovenous malformations (AVMs) (ruptured or unruptured) in terms of long-term outcomes, despite the presence of…
- Conditions
- Unruptured Brain Arteriovenous Malformation, Ruptured Brain Arteriovenous Malformation, Arteriovenous Malformations, AVM
- Trial name
- TOBAS (NCT02098252)
- Testing
- Neurosurgery, Radiation therapy, Embolization
- Where
- 30 sites in United States, Brazil and 4 more
- Volunteers
- 1,000 people
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Neurogenic Bladder, Neurogenic Bowel
The Role of Active Administration of Peristeen Bowel Evacuation for the Management of Urinary Tract Infection
This study investigates whether active use of transanal irrigation (Peristeen®) effectively manages urinary tract infection among patients with the diagnosis of neurogenic bladder.
- Conditions
- Neurogenic Bladder, Neurogenic Bowel, Spina Bifida, Fecal Incontinence
- Trial name
- NCT04815226
- Testing
- Peristeen Transanal Irrigation
- Where
- South Korea
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
Arteriovenous Fistula, Arteriovenous Malformation
Evaluation and Treatment of Patients Spinal Blood Vessel Abnormalities
Arteriovenous malformations (AVM) are abnormally formed blood vessels that can be located throughout the brain and spinal cord. Patients with abnormalities of the blood vessels located in and around the spinal cord can develop…
- Conditions
- Arteriovenous Fistula, Arteriovenous Malformation, Spinal Cord Disease
- Trial name
- NCT00001364
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Arteriovenous Malformations (Extracranial)
Cobimetinib In Extracranial Arteriovenous Malformations (COBI-AVM Study)
The purpose of this open-label study is to evaluate the safety and efficacy of cobimetinib in extracranial AVM.
- Trial name
- NCT05125471
- Testing
- Cobimetinib
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- University of Arkansas
Anorectal Malformations, Transition
Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations
Transition from paediatric to adult health care is crucial for preventing deterioration of chronic diseases. At present, transitional care (TC) is not established for patients with the Hirschsprung disease (H) and Anorectal…
- Conditions
- Anorectal Malformations, Transition, Quality of Life, Hirschsprung Disease
- Trial name
- NOHARM (NCT04106947)
- Testing
- Questionnaires
- Where
- Norway
- Volunteers
- 1,000 people
- Sponsor
- Oslo University Hospital