Clinical trials: Malformations
End Stage Renal Disease, Arteriovenous Fistula
Role of Monocytes Adhesion and Vascular Lesions in Vascular Access Success or Failure in Uremic Patients
This study is designed to identify novel predictors of vascular access success or failure in chronic kidney disease patients. Despite efforts to improve placement of arteriovenous fistula (AVF) the primary failure rates are…
- Trial name
- ROMAVAS (NCT03231410)
- Where
- Poland
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Wroclaw Medical University
Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease
Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
The purpose of this study is to collect 650 blood and 300 cerebrospinal fluid (CSF) samples from people with amyotrophic lateral sclerosis (ALS), pure lower or upper motor neuron diseases, as well as other neurodegenerative…
- Conditions
- Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease, Primary Lateral Sclerosis, Nervous System Diseases
- Trial name
- BIO_ALS-01 (NCT00677768)
- Testing
- No intervention
- Where
- 30 sites in United States, Canada
- Volunteers
- 475 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Micromastia, Breast Ptosis
Autologous Fat Grafting to the Breast
Structural fat grafting is a form of tissue transfer where the autologous fat is harvested and subsequently transferred to a different region of the body at the same setting.
- Conditions
- Micromastia, Breast Ptosis, Implant Failure, Breast Reconstruction
- Trial name
- NCT00775788
- Testing
- Autologous Fat Grafting to Breasts
- Where
- 2 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Louisiana State University Health Sciences Center in New Orleans
Lymphangiomatosis, Lymphedema
Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders
Background: Lymphatics are a type of vessel, similar to arteries and veins. Lymphatic disorders happen when these vessels don t work properly.
- Conditions
- Lymphangiomatosis, Lymphedema, Lymphangiectasia, Pulmonary Lymphangiectasia
- Trial name
- NCT02156115
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Hemodialysis Patient, Hemodialysis Catheter
The Effect of Arteriovenous Fistula Care Training Given to Hemodialysis Patients on Quality of Life, Comfort and Self-Care Behaviours
This study will be conducted to evaluate the effect of Arterio-Venous Fistula (AVF) care training given to hamodialysis patients on quality of life, comfort and self-care behaviours.
- Trial name
- Fistula care (NCT06959914)
- Testing
- Training group
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Kafkas University
Carpal Tunnel Syndrome
Topical Cannabidiol for Treating Carpal Tunnel Syndrome
The Purpose of this study is to assess the safety and efficacy of Cannabidiol on treatment of Carpal Tunnel Syndrome.
- Trial name
- NCT06108349
- Testing
- Cannabidiol
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Cystic Fibrosis, Pulmonary Fibrosis
Role of Genetic Factors in the Development of Lung Disease
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
- Conditions
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma
- Trial name
- NCT00001532
- Where
- 2 sites in United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
PTEN, ASD
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular…
- Conditions
- PTEN, ASD, Autism, Macrocephaly
- Trial name
- NCT02461446
- Where
- 5 sites in United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Charcot-Marie-Tooth Disease Type 1A
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of…
- Trial name
- CMT-TOOLS (NCT02596191)
- Testing
- Clinical evaluation, electrophysiological record, Muscle MRI
- Where
- 2 sites in France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique Hopitaux De Marseille
Neural Tube Defects, Spina Bifida
In-Utero Endoscopic Correction of Spina Bifida
The purpose of this study is to evaluate the feasibility and effectiveness of performing fetoscopic surgical correction of fetal spina bifida.
- Conditions
- Neural Tube Defects, Spina Bifida, Myelomeningocele
- Trial name
- NCT04362592
- Testing
- In Utero Endoscopic Correction of Myelomeningocele IDE - Percutaneous Technique, In Utero Endoscopic Correction of Myelomeningocele IDE - Laparotomy/Uterine Exteriorization Technique
- Where
- 2 sites in United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Cutaneous Arteriovenous Malformations
Identification of Genetic and Cellular Markers Associated With Vascular Endothelial Modifications in Cutaneous Arteriovenous Malformations
Cutaneous Arteriovenous malformations (AVM's) rare congenital high-flow vascular malformations in which arteries and veins are directly connected through a complex web of abnormal arteries and veins instead of a normal capillary…
- Trial name
- NCT01774916
- Testing
- blood samples
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Assistance Publique Hopitaux De Marseille
Telangiectasia, Hereditary Hemorrhagic
Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia
We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.
- Trial name
- NCT00230659
- Testing
- Blood sample to be taken.
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Cavernous Malformation, Cerebral, Cavernous Angioma
Quantitative Susceptibility Biomarker and Brain Structural Property for Cerebral Cavernous Malformation Related Epilepsy
Cerebral cavernous malformation (CCM)-related epilepsy (CRE) impairs the quality of life in patients with CCM. Patients could not always achieve seizure freedom after surgical resection of the lesion, suggesting an inadequate…
- Conditions
- Cavernous Malformation, Cerebral, Cavernous Angioma, Cavernous Hemangioma, Cavernous Hemangioma of Brain
- Trial name
- CRESS (NCT04076449)
- Where
- 2 sites in China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- yuanli Zhao
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Patients With Cognitive Disturbances
Hippocampal Sclerosis and Amnesia Not Due to Alzheimer's Disease
Hippocampal Sclerosis (HS) leads to anterograde amnesia mimicking early Alzheimer's disease (AD) (so called HSA-nonAD). Recent studies showed that (a) the deficit of episodic memory as well as the level of hippocampal atrophy in…
- Trial name
- ShaTau7 (NCT02576821)
- Testing
- Neurological examinations, Neuropsychological examinations, Clinical examinations
- Where
- France
- Volunteers
- 141 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier St Anne
Microcephaly
Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
Screening for microcephaly is important at birth and during early childhood. The Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) aims to establish a multicentric surveillance system for microcephaly in newborns…
- Trial name
- NCT03651687
- Where
- China
- Volunteers
- 47,369 people, healthy volunteers welcome
- Sponsor
- Guangzhou Women and Children's Medical Center
CMT - Charcot-Marie-Tooth Disease, CMT1A
AUTONOMOUS DISORDERS IN CMT
Hereditary neuropathies are a phenotypically and genetically heterogeneous group of disorders. One of the most common forms is Charcot-Marie-Tooth neuropathy (CMT), which can be further divided into demyelinating (CMT1) and…
- Conditions
- CMT - Charcot-Marie-Tooth Disease, CMT1A, CMT (Charcot Marie Tooth Disease)
- Trial name
- CMT-autonom (NCT07570446)
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Medical Center Goettingen
Hereditary Haemorrhagic Telangiectasia (HHT)
Immunmodulation in Patients With HHT
Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an inherited multisystemic disorder. Literature suggests that HHT is often associated with higher frequency of infectious diseases.
- Trial name
- NCT02983253
- Testing
- blood sample
- Where
- Germany
- Volunteers
- 124 people, healthy volunteers welcome
- Sponsor
- University Hospital, Essen
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International