Clinical trials: Malformations
Tuberous Sclerosis, Subependymal Giant Cell Astrocytoma
Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex
The purpose of the study is to evaluate the safety and potential side effects of everolimus (an experimental drug) on a person with Tuberous Sclerosis Complex who also has been diagnosed with a brain tumor (astrocytoma) The…
- Trial name
- NCT00411619
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Nervous System Malformations, Arthropathy, Neurogenic
Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease
This study will evaluate the safety and effectiveness of anakinra (Kineret) for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurological, cutaneous and…
- Conditions
- Nervous System Malformations, Arthropathy, Neurogenic, Urticaria, Papilledema
- Trial name
- NCT00069329
- Testing
- anakinra
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Tuberous Sclerosis Complex
Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, double-blind, randomized, placebo-controlled study of adjunctive GNX treatment in children and adults with TSC-related epilepsy.
- Trial name
- NCT05323734
- Testing
- Ganaxolone
- Where
- 63 sites in United States, Australia and 8 more
- Volunteers
- 129 people
- Sponsor
- Marinus Pharmaceuticals
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Lymphatic Malformations, Lymphatic Diseases
Sildenafil for the Treatment of Lymphatic Malformations
A Phase 2 study to evaluate safety and efficacy of sildenafil taken orally to improve or resolve lymphatic malformations in children.
- Trial name
- NCT02335242
- Testing
- Sildenafil 20 mg tablets
- Where
- 3 sites in United States
- Volunteers
- 22 people
- Sponsor
- Stanford University
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
Epilepsy, Bipolar Disorder
Lamotrigine Pregnancy Registry (LAM05)
Antiepileptic drugs (AEDs) are not indicated for use in pregnancy. However, women with epilepsy, and other approved indications including bipolar disorder, may require or be unintentionally exposed to AEDs during pregnancy.
- Trial name
- NCT01064297
- Testing
- Lamotrigine monotherapy, Lamotrigine polytherapy including valproate, Lamotrigine polytherapy without valproate
- Volunteers
- 3,416 people
- Sponsor
- GlaxoSmithKline
Hereditary Haemorrhagic Telangiectasia
Hereditary Haemorrhagic Telangiectasia Flight Safety Study
Hereditary Haemorrhagic Telangiectasia (HHT) is a condition in which sufferers have abnormal blood vessels which makes them more likely to bleed than other people, particularly in the lungs, which results in low blood oxygen…
- Trial name
- Flying and HHT (NCT01590121)
- Testing
- Aeroplane flight in the past- no active intervention for study, Questionnaire
- Where
- United Kingdom
- Volunteers
- 156 people
- Sponsor
- Imperial College London
Acute Leukemia, Acute Myeloid Leukemia
A Study of Withdrawal of Immunosuppression and Donor Lymphocyte Infusions Following Allogeneic Transplant for Pediatric Hematologic Malignancies
There is no curative therapy once acute leukemia patients relapse after transplant. Patients who develop clinically significant graft versus host disease (GVHD) have a lower rate of relapse than those who do not develop GVHD.
- Conditions
- Acute Leukemia, Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Biphenotypic Leukemia
- Trial name
- NCT01036009
- Testing
- Withdrawal of immunosuppression and donor lymphocyte infusion
- Where
- 2 sites in United States
- Volunteers
- 43 people
- Sponsor
- University of California, San Francisco
Tuberous Sclerosis Complex, Self-injury
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral…
- Conditions
- Tuberous Sclerosis Complex, Self-injury, Autism
- Trial name
- RAPT (NCT01929642)
- Testing
- Sirolimus, Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
Vascular Malformations, Vascular Malformation Peripheral
Influence of Flat-knitted Compression Stockings Class I and II on Venous Malformations
Diseases with vascular malformations are rare and often congenital, affecting patients of all ages. Depending on their extent and localization, they can cause discomfort and, especially if activity is restricted, lead to loss or…
- Conditions
- Vascular Malformations, Vascular Malformation Peripheral, Venous Malformation, Vascular Diseases
- Trial name
- NCT04637997
- Testing
- compression stockings class I, compression stockings class II
- Where
- Germany
- Volunteers
- 18 people
- Sponsor
- University Hospital Erlangen
PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder
Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
Background: PIK3CA-related overgrowth spectrum (PROS) is caused by changes in the PIK3CA gene. This gene makes a protein that communicates with other proteins in the body to cause cells to grow.
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics
- Trial name
- NCT02428296
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Tuberous Sclerosis, Subependymal Giant Cell Astrocytoma
Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1)
This study evaluated the efficacy and safety of Everolimus in treating patients with Subependymal Giant Cell Astrocytomas associated with Tuberous Sclerosis Complex.
- Trial name
- EXIST-1 (NCT00789828)
- Testing
- Everolimus
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 117 people
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis Complex
Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex
Study design is a Phase IIb prospective multi-center, randomized, placebo-controlled, double-blind clinical trial. The goal will be to enroll 80 infants with Tuberous Sclerosis Complex who are less than 6 months of age prior to…
- Trial name
- NCT02849457
- Testing
- Early Vigabatrin
- Where
- 13 sites in United States
- Volunteers
- 84 people
- Sponsor
- Martina Bebin
Tuberous Sclerosis Complex, Seizures
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)
This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P.
- Trial name
- NCT02544750
- Testing
- GWP42003-P
- Where
- United States
- Volunteers
- 199 people
- Sponsor
- Jazz Pharmaceuticals
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Neurogenic Detrusor Overactivity
A Two-week Open-label Pharmacodynamic and Pharmacokinetic Study of Multiple Doses of a Darifenacin Liquid Oral Suspension in Children (2 - 15 Years) With Neurogenic Detrusor Overactivity
This study will evaluate the pharmacodynamics and pharmacokinetics of darifenacin liquid oral suspension in children, ages 2-15 years, with neurogenic detrusor overactivity.
- Trial name
- NCT00712322
- Testing
- Darifenacin
- Where
- 12 sites in United States, Colombia
- Volunteers
- 35 people
- Sponsor
- Warner Chilcott
Arnold-Chiari Malformation, Type 1, Chiari Malformation Type I
Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia
The purpose of this study is to determine whether a posterior fossa decompression or a posterior fossa decompression with duraplasty results in better patient outcomes with fewer complications and improved quality of life in…
- Conditions
- Arnold-Chiari Malformation, Type 1, Chiari Malformation Type I, Type I Arnold-Chiari Malformation, Syringomyelia
- Trial name
- NCT02669836
- Testing
- Posterior fossa decompression, Dural Augmentation
- Where
- United States
- Volunteers
- 162 people
- Sponsor
- Washington University School of Medicine