Clinical trials: Malformations, open to volunteers
Drug Resistant Epilepsy
Fluorescence Guided Focal Cortical Dysplasia Surgery
Epilepsy is one of the most common neurological disorders, with one of the highest morbidity rates of all diseases. Despite the development of new anticonvulsant drugs, around a third of patients suffer from drug-resistant…
- Trial name
- FLUOFOCODYS (NCT07657975)
- Testing
- 5-ALA (Gliolan)
- Where
- 2 sites in France
- Volunteers
- 5 people
- Sponsor
- Hospices Civils de Lyon
Metastatic Cancer
A Study of Reduced-dose Radiation in People With Metastatic Tumors With a Genetic Change
This study will test whether reduced-dose radiotherapy is an effective treatment for metastatic tumors with an ATM mutation. The researchers want to find the lowest dose of radiation that would still be effective to treat these…
- Trial name
- NCT05010031
- Testing
- Palliative radiotherapy
- Where
- 7 sites in United States
- Volunteers
- 45 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Inclusion Body Myositis, Myotonic Dystrophy
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders
Currently, there are no standardised fall risk scores or guidelines on when to use appropriate assistive gait devices (AGDs) for people with neuromuscular disorders (NMDs).
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy, Limb-girdle and Facioscapulohumeral Muscular Dystrophies, Pompe Disease
- Trial name
- FBIndex (NCT06605612)
- Testing
- FBIndex
- Where
- Germany
- Volunteers
- 108 people
- Sponsor
- LMU Klinikum
AV Fistula
Tissue Markers Predictive of Early Stenosis in the Arterovenous Fistula for Hemodialysis
The study involves the recruitment of two populations. POPULATION 1 (surgical sample of excess venous segment): at least 75 consecutive patients, enrolled according to the inclusion criteria and subjected to first AVF surgery as…
- Trial name
- FAV-2019 (NCT06815159)
- Testing
- Identification any tissue markers predictive or favoring early stenosis in AVF for haemodialysis.
- Where
- Italy
- Volunteers
- 150 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Ras/MAPK Pathway Vascular Anomalies, Vascular Anomalies
24VA021; VATCH Trametinib for Ras/MAPK Pathway VAs
The purpose of this study is to assess the effectiveness and safety of Trametinib (the "Study Drug") in patients with Ras/MAPK pathway driven vascular anomalies (VA). Trametinib has been approved by the U.S.
- Conditions
- Ras/MAPK Pathway Vascular Anomalies, Vascular Anomalies, Vascular Anomaly
- Trial name
- VATCH (NCT07549646)
- Testing
- Trametinib
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Children's Hospital of Philadelphia
Lymphatic Malformation, Lymphatic Abnormality
Institution of an Italian Registry and Biobank for Biological Sample Collection
Lymphatic malformations (ML), are benign non-neoplastic, rare, resulting from an embryologic abnormal development of the lymphatic system.
- Conditions
- Lymphatic Malformation, Lymphatic Abnormality, Lymphangioma, Lymphatic Abnormalities
- Trial name
- IReg-LM (NCT06892964)
- Testing
- Genetic profiling of all eligible patients
- Where
- Italy
- Volunteers
- 70 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Hereditary Hemorrhagic Telangiectasia (HHT)
Phase 1b Study of TX002100 in Participants With Hematologic Support-Dependent Hereditary Hemorrhagic Telangiectasia (HHT)
The primary purpose of this study is to assess the safety and tolerability of TX002100 in participants with hereditary hemorrhagic telangiectasia (HHT).
- Trial name
- NCT07863609
- Testing
- TX002100
- Volunteers
- 20 people
- Sponsor
- Tectonic Operating Company, Inc.
Mesial Temporal Lobe Epilepsy
AMT-260 Gene Therapy Study in Adults With Unilateral Refractory Mesial Temporal Lobe Epilepsy
The main goals of this clinical study are to learn if AMT-260 is safe and tolerable and works to reduce the frequency of seizures in adults with unilateral mesial temporal lobe epilepsy (MTLE).
- Trial name
- GenTLE (NCT06063850)
- Testing
- AAV9-hSyn1-miGRIK2
- Where
- 18 sites in United States
- Volunteers
- 12 people
- Sponsor
- UniQure Biopharma B.V.
Charcot-Marie-Tooth Disease Type 1A
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves.
- Trial name
- EQUIVIB-CMT (NCT07726043)
- Testing
- Multidisciplinary rehabilitation program
- Where
- France
- Volunteers
- 30 people
- Sponsor
- UGECAM PACA et Corse
Brain Arterial Disease
Liquid Biopsies for the Detection of Somatic Mutations in bAVMs
"Personalized medicine has revolutionized patient care, particularly in oncology. Brain arteriovenous malformations (bAVMs) are abnormal vessels located on the surface of the brain or within the brain parenchyma, causing abnormal…
- Trial name
- BioMAV (NCT06494358)
- Testing
- liquid biopsies and surgery specimen analysis
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Arterio-venous Fistula, Stenosis of Arteriovenous Dialysis Fistula
A First-In-Man Study to Assess Safety and Efficacy of Ultra High Pressure PTA Balloon ULTRAVIOLET in Treating A-V Fistula Stenosis
First-In-Man Single Arm Prospective Study to assess the safety and efficacy of ULTRAVIOLET UHP PTA balloon.
- Trial name
- ULTRAVIOLETFIM (NCT07330817)
- Testing
- PTA balloon
- Where
- Italy
- Volunteers
- 35 people
- Sponsor
- Cardionovum GmbH
Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT)
Personalized Training for People With Rare Neuromuscular Disorders
The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders…
- Conditions
- Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT), Facioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- PETRA-NMD (NCT06708468)
- Testing
- Exercise, Usual Care
- Where
- 5 sites in Norway
- Volunteers
- 120 people
- Sponsor
- Oslo University Hospital
Pancreas Cancer, Peutz-Jeghers Syndrome (PJS)
The Cancer of the Pancreas Screening-5 CAPS5)Study
Johns Hopkins clinical research office quality assurance group will monitor and audit this study at Johns Hopkins. The Sub Investigator at each site will be responsible for internal monitoring at their site.
- Conditions
- Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier
- Trial name
- CAPS5 (NCT02000089)
- Testing
- Secretin, MRI, Tumor marker gene test with CA19-9
- Where
- 9 sites in United States
- Volunteers
- 9,000 people
- Sponsor
- Johns Hopkins University
Cerebral Palsy, Muscular Dystrophy
Evaluating Long-term Use of a Pediatric Robotic Exoskeleton (P.REX/Agilik) to Improve Gait in Children With Movement Disorders
Background: People with cerebral palsy, spina bifida, muscular dystrophy, or spinal cord injury often have muscle weakness and problems controlling how their legs move. This can affect how they walk.
- Conditions
- Cerebral Palsy, Muscular Dystrophy, Spina Bifida, Incomplete Spinal Cord Injury
- Trial name
- NCT05726591
- Testing
- EA-KAFO
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Giant Axonal Neuropathy (GAN)
Intraneural Administration of scAAV9/JeT-GAN Into the Vagus Nerve for Patients With Giant Axonal Neuropathy (GAN)
Giant axonal neuropathy (GAN) is a rare pediatric disorder caused by autosomal recessive mutations in the GAN gene. GAN is a multisystem, neurodegenerative disorder affecting the peripheral nervous system (PNS), central nervous…
- Trial name
- NCT07543991
- Testing
- scAAV9/JeT-GAN
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Texas Southwestern Medical Center
Hirschsprung Disease, Anorectal Malformations
Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations
Approximately 340 babies are born with Hirschsprung's disease (HSCR) or an anorectal malformation (ARM) per year in the UK. Most require corrective surgery in the newborn or early infancy period.
- Trial name
- ALOHA (NCT05450991)
- Testing
- Pull through
- Where
- United Kingdom
- Volunteers
- 1,200 people
- Sponsor
- Alder Hey Children's NHS Foundation Trust
Neural Tube Defects, Spina Bifida
Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele
The purpose of this study is to evaluate the feasibility of a fetoscopic surgical technique for antenatal correction of fetal myelomeningocele. Two surgical approaches will be utilized.
- Conditions
- Neural Tube Defects, Spina Bifida, Myelomeningocele, Chiari Malformation
- Trial name
- NCT03856034
- Testing
- Fetoscopy
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- USFetus
CMT, CMT (Charcot Marie Tooth Disease)
A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22.
- Conditions
- CMT, CMT (Charcot Marie Tooth Disease), CMT - Charcot-Marie-Tooth Disease, CMT1A
- Trial name
- CMT-MODs (NCT07476365)
- Where
- Germany
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University Medical Center Goettingen
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.
Lymphatic Malformation, Pediatric
Efficacy of Rapamycin in the Treatment of Cervico-facial Lymphatic Malformations
To evaluate the efficacy of Rapamycin in extended cervicofacial lymphatic malformations in pediatric patients. Rapamycin is administered oral for a 6 month period.
- Trial name
- RAPAMALYMPH (NCT03243019)
- Testing
- rapamycin, MRI, Rapamycin dosage
- Where
- 2 sites in France
- Volunteers
- 28 people
- Sponsor
- University Hospital, Lille