Clinical trials: Malformations
PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, zovegalisib (RLY-2608), in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations…
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation
- Trial name
- NCT06789913
- Testing
- RLY-2608
- Where
- 40 sites in United States, Australia and 7 more
- Volunteers
- 277 people
- Sponsor
- Relay Therapeutics, Inc.
Cerebral Palsy, Stroke
Feasibility of the Portable YouGrabber System
The aim of the study is to determine the feasibility of the portable version of the YouGrabber® system in children with central motor disorders.
- Conditions
- Cerebral Palsy, Stroke, Traumatic Brain Injury, Meningomyelocele
- Trial name
- YouGrabber (NCT02368223)
- Testing
- YouGrabber
- Where
- Switzerland
- Volunteers
- 15 people
- Sponsor
- University Children's Hospital, Zurich
Tuberous Sclerosis
Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B)
To assess preliminary safety and efficacy of ganaxolone as adjunctive therapy for the treatment of primary seizure types in patients with genetically- or clinically-confirmed TSC-related epilepsy through the end of the 12 week…
- Trial name
- TSC (NCT04285346)
- Testing
- Ganaxolone
- Where
- 7 sites in United States
- Volunteers
- 23 people
- Sponsor
- Marinus Pharmaceuticals
Spinal Cord Injuries, Cerebral Palsy
Mobile Health Self-Management and Support System for Chronic and Complex Health Conditions
This study will assess the benefits of using mobile health system designed for individuals with chronic and complex health conditions (such as those with Spinal Cord Injury,Cerebral Palsy, Spina Bifida, and Traumatic Brain…
- Conditions
- Spinal Cord Injuries, Cerebral Palsy, Spinal Dysraphism, Brain Injuries
- Trial name
- NCT02592291
- Testing
- MHealth
- Where
- United States
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Telangiectasia, Hereditary Hemorrhagic
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)
- Trial name
- NCT00230620
- Where
- United Kingdom
- Volunteers
- 1,000 people
- Sponsor
- Imperial College London
Venous Malformation
Efficacy and Safety Analysis of Polylauric Alcohol More Stable Foam Versus Ordinary Foam in the Treatment of Head and Neck Venous Malformations
The aim of this study is to explore the efficacy and safety of poly -LRB-cinnamyl alcohol) foam in the treatment of venous malformations of head and neck through a prospective randomized clinical trial, this trial may provide…
- Trial name
- NCT07066527
- Testing
- The addition of sodium hyaluronate to poly (cinnamyl alcohol-RRB- produces a more stable foam
- Where
- China
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
Renal Insufficiency, Chronic, Arteriovenous Fistula
Artificial Intelligence-based Prediction of Radio-cephalic Arteriovenous Fistula Maturation Using Preoperative Duplex Examination
The goal of this observational study is to assess the efficacy of AI-driven models in analyzing comprehensive ultrasonographic variables across multiple forearm locations to predict successful AVF maturation.
- Conditions
- Renal Insufficiency, Chronic, Arteriovenous Fistula, Artificial Intelligence (AI), Machine Learning
- Trial name
- NCT06600750
- Testing
- Arteriovenous fistula
- Where
- South Korea
- Volunteers
- 494 people
- Sponsor
- Seoul National University Hospital
Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
The purpose of this research study is to create and validate two patient reported outcome (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in patients with inherited neuropathies.
- Trial name
- DSI and HMSN (NCT02194010)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 563 people
- Sponsor
- University of Iowa
Cerebral Palsy, Spinal Muscular Atrophy
Pediatric Powered Wheelchair Standing Devices: An Exploratory Study
For children who use a power wheelchair, a powered wheelchair standing device (PWSD) may be considered for daily use. A PWSD allows a child to electronically move between sitting and standing and can be driven in either position.
- Conditions
- Cerebral Palsy, Spinal Muscular Atrophy, Spinal Cord Injuries, Spina Bifida
- Trial name
- NCT05117827
- Testing
- Power Wheelchair Standing Device
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Grand Valley State University
Spina Bifida, Neurogenic Bowel
Bowel Continence Across the Lifespan in People With Spina Bifida
The goal of this observational study is to learn how different enema programs affect bowel control in children and adults with spina bifida.
- Conditions
- Spina Bifida, Neurogenic Bowel, Bowel Incontinence
- Trial name
- BCALS (NCT07390318)
- Testing
- Retrograde Enema, Antegrade Enema
- Where
- 24 sites in United States
- Volunteers
- 943 people
- Sponsor
- David Chu
Lymphatic Abnormality
Injection Sclerotherapy With Bleomycin VS Doxycycline in Patients With Lymphatic Malformations
This is a randomized clinical trial comparing the safety and effectiveness of injection sclerotherapy using bleomycin versus doxycycline in children under 12 years with lymphatic malformations.
- Trial name
- NCT07320001
- Testing
- Bleomycin, doxycycline (tetracycline)
- Volunteers
- 92 people
- Sponsor
- Basharat Hussain
Tuberous Sclerosis Complex
Efficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex Symptoms in Infants
The purpose of the study is to evaluate the efficacy, tolerability, and safety of vigabatrin versus rapamycin as a preventive treatment in infants with Tuberous Sclerosis Complex (TSC).
- Trial name
- ViRap (NCT04987463)
- Testing
- Vigabatrin, Rapamycin
- Where
- 2 sites in Poland
- Volunteers
- 60 people
- Sponsor
- Katarzyna Kotulska
Rathke's Cleft Cyst
Evaluation of the Pravalence of Rathke's Cleft Cyst of Children Under 15 Years
The goal of the study was to evaluate the pravalence of Rathke's Cleft Cyst of children under 15 years of age and demonstrate that their prevalence is higher than for patients over 15 years of age, due to their embryonic origin.
- Trial name
- PREVA-KPR (NCT03975712)
- Testing
- Not applicable, no intervention
- Where
- France
- Volunteers
- 460 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Digestive System Abnormalities
Follow-up of Children With Gastrointestinal Malformations and Postnatal Surgery
The aim of this single center study is to measure the impact of standardized neonatal pediatric surgeries due to gastrointestinal malformations on the children's motor and cognitive development and psycho-emotional competence.
- Trial name
- FraMal (NCT01451307)
- Where
- Germany
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Goethe University
Malformations, Multiple Abnormalies
Phenotype and Etiology of Pallister-Hall Syndrome
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl…
- Conditions
- Malformations, Multiple Abnormalies, Polydactyly
- Trial name
- NCT00001404
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 1,170 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurogenic Bladder
Efficacy Of Pulsed Electromagnetic Field Therapy On Neurogenic Bladder in Children With Myelomeningocele
This study was conducted to assess the efficacy of pulsed electromagnetic field therapy on neurogenic bladder in children with myelomeningocele .Intervention: A pretest-post test controlled study was conducted in out-patient…
- Trial name
- NCT04187027
- Testing
- pulsed electromagnetic field therapy device
- Where
- 2 sites in Egypt
- Volunteers
- 40 people
- Sponsor
- South Valley University
Hereditary Spastic Paraparesis
Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- TreatSPG11 (NCT04768166)
- Testing
- Miglustat 100 MG
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- IRCCS Fondazione Stella Maris
Spina Bifida, Neurogenic Bladder
CIC Behavioral Economics in Children With Spina Bifida
The purpose of the study is to develop a comprehensive program to increase early initiation of self-catheterization in children with Spina Bifida. This will be a prospective open label randomized control trial.
- Trial name
- NCT05562713
- Testing
- Present Bias without Loss Aversion, Present Bias with Loss Aversion
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Arteriovenous Malformation of Brain
Long-term Outcomes After Different Management Strategies for High-level Cerebral Arteriovenous Malformation
Arteriovenous malformations (AVMs) are complex and rare cerebral vascular dysplasia. The main purpose of treatment is to avoid the neurological impairment caused by hemorrhagic stroke.
- Trial name
- OHAVM (NCT04136860)
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Beijing Tiantan Hospital
Arteriovenous Malformations, Cerebral, Unruptured Brain Arteriovenous Malformation
Transvenous Approach for the Treatment of Cerebral Arteriovenous Malformations
A new endovascular route for the treatment of brain AVMs may be possible in some cases: Trans-Venous Embolization (TVE). The technique uses microcatheters to navigate to the draining veins of AVM, to reach and then fill the AVM…
- Conditions
- Arteriovenous Malformations, Cerebral, Unruptured Brain Arteriovenous Malformation, Ruptured Brain Arteriovenous Malformation
- Trial name
- TATAM (NCT03691870)
- Testing
- Standard Trans-Arterial Embolization (TAE), Trans-Venous Embolization (TVE)
- Where
- 9 sites in Canada, France
- Volunteers
- 77 people
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)