Clinical trials: Malformations
CMT 1A
Driving Ability in Patients With CMT 1A
Charcot Marie Tooth 1A (CMT 1A) is a common inherited disorder of the nerves in the body. The disease can result in difficulties with strength and balance as well as in foot deformities such as high arches, hammer toes, and tight…
- Trial name
- NCT02357355
- Testing
- UIHC Driving Simulator
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Jerath U Nivedita
Epigastric Pain, Retrosternal Pain
Transient Receptor Potential Vanilloid One (TRPV1) Receptor Expression in Children With Retrosternal Pain
We would like to evaluate the changes in nerve innervation and TRPV1 receptor expression along with microscopic changes associated with heart burn and abdominal pain
- Conditions
- Epigastric Pain, Retrosternal Pain, Esophagitis, Gastrointestinal Symptoms
- Trial name
- TRPV1 (NCT00677378)
- Where
- United States
- Volunteers
- 77 people
- Sponsor
- Medical College of Wisconsin
Post-operative Pain, Spine, Open
The Effect of Press Needle in the Combination of Ear and Body Acupuncture Points on Visual Analog Scale in Post-Operative Patients of Open Spine Surgery
Postoperative pain is pain that arises after a surgical procedure, resulting from trauma during the surgical incision process. It is generally acute in nature and is accompanied by an inflammatory response.
- Trial name
- NCT06165575
- Testing
- Press needle
- Where
- 3 sites in Indonesia
- Volunteers
- 54 people
- Sponsor
- Universitas Indonesia
Charcot-Marie-Tooth Disease, Hereditary Neuropathy With Liability to Pressure Palsies
Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
The present trial is a randomized, placebo-controlled study evaluating 3 different doses of PXT3003 in patients with CMT1A disease.
- Conditions
- Charcot-Marie-Tooth Disease, Hereditary Neuropathy With Liability to Pressure Palsies, Genetic Disorders
- Trial name
- NCT01401257
- Testing
- PXT3003 Low dose, PXT3003 Intermediate Dose, PXT3003 High Dose
- Where
- 6 sites in France
- Volunteers
- 80 people
- Sponsor
- Pharnext S.C.A.
CCM, Familial Cerebral Cavernous Malformation
Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study
Patients with symptomatic and asymptomatic familial cerebral cavernous malformation (fCCM) will be included. The goal of this observational study is to learn about the long-term evolution of this condition.
- Trial name
- CCM_Italia (NCT06983132)
- Testing
- Cerebral imaging (MRI) according to a dedicated protocol with central MRI reading, Determination of circulating biomarkers
- Where
- 6 sites in Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Lymphatic Malformations
Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.
The main purpose of this study in participants with PIK3CA-mutated LyM is to assess the change in radiological response and symptom severity upon treatment with alpelisib film-coated tablets (FCT) as compared to placebo.
- Trial name
- EPIK-L1 (NCT05948943)
- Testing
- Alpelisib
- Where
- 61 sites in United States, Argentina and 10 more
- Volunteers
- 232 people
- Sponsor
- Novartis Pharmaceuticals
Omphalocele
Omphaloceles and Associated Malformations
Major birth defects like omphalocele are diagnosed in 3-8% of all newborns in Germany each year. Prevention and treatment quality of congenital malformations are key concerns for child health.
- Trial name
- NCT04126863
- Where
- Germany
- Volunteers
- 118 people
- Sponsor
- University Hospital Tuebingen
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
Chronic Constipation With Overflow, Encopresis With Constipation and Overflow Incontinence
Non-invasive Sacral Nerve Stimulation in Children and Adolescents With Chronic Constipation
The purpose of this study is to assess the efficacy of additional neuromodulation for treatment of chronic constipation in pediatric patients
- Conditions
- Chronic Constipation With Overflow, Encopresis With Constipation and Overflow Incontinence, Hirschprung's Disease, Anorectal Malformations
- Trial name
- NCT04710433
- Testing
- Non-invasive Neuromodulation, Medical and Behavioral Therapy
- Where
- Germany
- Volunteers
- 59 people
- Sponsor
- Friedrich-Alexander-Universität Erlangen-Nürnberg
Wounds and Injuries
Comparison of Two Different Procedures for Plexus Anesthesia
The purpose of this study is to investigate the influence of difference positioning on extension and efficacy of brachial plexus anesthesia at 20 minutes by using the axillary plexus block with supine positioning and a lateral…
- Trial name
- NCT00151112
- Testing
- Positioning and plexus anesthesia
- Where
- 2 sites in Germany
- Volunteers
- 100 people
- Sponsor
- University Hospital Muenster
Telangiectasia, Hereditary Hemorrhagic
Efficacy of Nintedanib for Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Patients
Patients affected by hereditary hemorrhagic telangiectasia (HHT) very often suffer from recurrent nosebleeds called epistaxis. There is no treatment currently available to reduce the frequency or severity of epistaxis.
- Trial name
- EPISTOP (NCT04976036)
- Testing
- Nintedanib
- Where
- 3 sites in France, Switzerland
- Volunteers
- 48 people
- Sponsor
- Dr. Romain Lazor
Dialysis Access Malfunction, End Stage Renal Failure on Dialysis
MAgicTouch™ Intervention Leap for Dialysis Access (MATILDA) Trial
For patients with End Stage Renal Failure (ESRF), the surgical creation of an Autogenous Arteriovenous Fistula (AVF) or Autogenous Arteriovenous Graft (AVG) is the recognised standard for providing vascular access.
- Conditions
- Dialysis Access Malfunction, End Stage Renal Failure on Dialysis, End Stage Renal Disease, Fistulas Arteriovenous
- Trial name
- MATILDA (NCT04698512)
- Testing
- AVFistuloplasty with Sirolimus coated balloon
- Where
- Singapore
- Volunteers
- 35 people
- Sponsor
- Singapore General Hospital
Arteriovenous Malformations, Cerebral
A Randomized Trial of Unruptured Brain AVMs
The purpose of this study is to determine if medical management is better than invasive therapy for improving the long-term outcome of patients with unruptured brain arteriovenous malformations.
- Trial name
- ARUBA (NCT00389181)
- Testing
- Interventional therapy, Medical management
- Where
- 66 sites in United States, Australia and 12 more
- Volunteers
- 226 people
- Sponsor
- Columbia University
Hereditary Sensory and Autonomic Neuropathy Type I
L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
In hereditary sensory and autonomic neuropathy type 1 (HSAN1) the investigators recently discovered the accumulation of two neurotoxic sphingolipids.
- Trial name
- NCT01733407
- Testing
- L-serine
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Massachusetts General Hospital
Fecal Incontinence, Anorectal Malformation
NASHA/Dx as a Perianal Implant for the Treatment of Persistent Fecal Incontience After Anorectal Malformation
Persistent fecal incontinence (FI) after anorectal malformations (ARM) is a common occurence. During the last two decades perianal injection therapy has emerged as an option for treating patients with FI due to other causes than…
- Trial name
- NCT03746834
- Testing
- NASHA/Dx (Solesta®)
- Volunteers
- 7 people
- Sponsor
- Uppsala University
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia
Phenotype, Genotype & Biomarkers in ALS and Related Disorders
The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia
- Trial name
- NCT02327845
- Where
- 15 sites in United States, Germany and 1 more
- Volunteers
- 708 people, healthy volunteers welcome
- Sponsor
- University of Miami
Total Anomalous Pulmonary Venous Connection
Sutureless Technique and Conventional Repairs for Total Anomalous Pulmonary Venous Connection
The purpose of this study is to evaluate the efficacy of conventional repair and sutureless surgical repair of total anomalous pulmonary venous connection.
- Trial name
- NCT04234711
- Testing
- Surgical strategy
- Where
- China
- Volunteers
- 150 people
- Sponsor
- Guangdong Provincial People's Hospital
Nonmalignant Neoplasm, Tuberous Sclerosis
RAPAMYCIN FOR KIDNEY ANGIOMYOLIPOMAS
This research study is evaluating a drug called rapamycin as a possible treatment for the lumps (or tumors) that form in the kidneys, called angiomyolipomas, in people who have either TSC or LAM.
- Conditions
- Nonmalignant Neoplasm, Tuberous Sclerosis, Lymphangioleimyomatosis, Kidney Angiomyolipoma
- Trial name
- NCT00126672
- Testing
- Rapamycin
- Where
- 7 sites in United States
- Volunteers
- 36 people
- Sponsor
- Dana-Farber Cancer Institute
Acute Renal Failure
AV Fistula Salvage in Advanced CKD Using Sodium Bicarbonate Prophylaxis
This is an observational study assessing the impact of conventional dose iodinated contrast on the renal function of advanced chronic kidney disease patients undergoing arteriovenous fistula evaluation using a standard sodium…
- Trial name
- NCT00621972
- Where
- United States
- Sponsor
- MaineHealth
Cerebral Palsy, Spina Bifida
The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities
Youth with physical disabilities face greater restrictions to participation in community-based activities than their typically developing peers, which can lead to poor health outcomes.
- Conditions
- Cerebral Palsy, Spina Bifida, Muscular Dystrophies, Musculoskeletal Disorder
- Trial name
- NCT03851107
- Testing
- Engagement in 6-week community-based activity program
- Where
- Canada
- Volunteers
- 8 people
- Sponsor
- McGill University