Clinical trials: Phacomatosis
Headache, Tumor
Dexmedetomidine and Propofol for Pediatric MRI Sedation
The purpose of this study is to compare the results of combining two anesthetic medications (dexmedetomidine and propofol) in low doses with a standard dose of a single drug that is commonly used to provide sedation/anesthesia…
- Conditions
- Headache, Tumor, Seizure Disorder, Neurofibromatoses
- Trial name
- NCT03513757
- Testing
- propofol, Dexmedetomidine, Glycopyrrolate
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Medical College of Wisconsin
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.
Von Hippel-Lindau Syndrome
A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab
Background: People with Von-Hippel-Lindau (VHL) disease may experience significant vision loss as a result of retinal capillary hemangiomas (RCH), the most common and often earliest manifestation of VHL.
- Trial name
- NCT02859441
- Testing
- Ranibizumab, E10030
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Eye Institute (NEI)
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
Hippel-Lindau Disease, Kidney Cancer
17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease
This study will examine whether the drug 17AAG (17-allylamino 17-demethoxygeldanamycin) can shrink kidney tumors in patients with Von Hippel-Lindau disease (VHL), a rare, inherited syndrome in which patients develop tumors in…
- Trial name
- NCT00088374
- Testing
- 17 allylamino-17-demethoxygeldanamycin, 18 FDG (Fludeoxyglucose 18F), [15-O] H2O
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- National Cancer Institute (NCI)
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
Neurofibromatosis 1
Medical Treatment of "High-Risk" Neurofibromas
Patients with neurofibromatosis type 1 (NF1) commonly develop non-cancerous tumors called plexiform neurofibromas. These tumors can be defined as "high-risk" when they result in severe pain, physical disability, organ dysfunction…
- Trial name
- NCT00846430
- Testing
- Peg-Interferon alpha-2b, Celecoxib (Celebrex), Temozolomide (temodar)
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Corewell Health West
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.
Neurofibromatosis Type 1, Reading Disabilities
Neurobiology and Treatment of Reading Disability in NF-1
The goal of this trial is to determine if children with neurofibromatosis type 1 who have reading disabilities respond the same way-both behaviorally and neurobiologically-to specialized treatment programs as children with…
- Trial name
- NCT00624234
- Testing
- Tutoring Program I, Tutoring Program II
- Where
- United States
- Volunteers
- 184 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University
Neurofibromatosis
Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas
THe primary objective is to estimate the response rate at 6 months to Gleevec® in patients with plexiform neurofibromas
- Trial name
- NCT01673009
- Testing
- Gleevec
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Indiana University
Tuberous Sclerosis Complex, Seizures
A Randomized Controlled 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 blinded phase only will be described in this record. Participants will receive 1 of 2 doses of GWP42003-P or matching placebo.
- Trial name
- NCT02544763
- Testing
- GWP42003-P
- Where
- 44 sites in United States, Australia and 4 more
- Volunteers
- 224 people
- Sponsor
- Jazz Pharmaceuticals
Neurofibromatosis Type 1, Plexiform Neurofibroma
Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas
This is a phase II open label study that will evaluate children ≥ 1 year of age and adults with neurofibromatosis type 1 (NF1) and plexiform neurofibromas treated with the MEK inhibitor, binimetinib.
- Trial name
- NF108-BINI (NCT03231306)
- Testing
- Binimetinib
- Where
- 22 sites in United States
- Volunteers
- 45 people
- Sponsor
- University of Alabama at Birmingham
Ataxia Telangiectasia
Whole Body MRI for Cancer Surveillance in A-T
Ataxia Telangiectasia (A-T) is an inherited disorder characterised by cerebellar neurodegeneration, immunodeficiency and respiratory disease.
- Trial name
- NCT05252819
- Testing
- Magnetic Resonance Imaging and an optional blood test
- Where
- United Kingdom
- Volunteers
- 37 people
- Sponsor
- University of Nottingham
Neurofibromatosis 2, Progressive Vestibular Schwannoma (VS)
Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas
Subjects with Neurofibromatosis Type 2 (NF2) and progressive vestibular schwannoma (VS) will be treated with crizotinib administered orally.
- Trial name
- NF110 (NCT04283669)
- Testing
- Crizotinib
- Where
- 15 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Alabama at Birmingham
Sturge-Weber Syndrome
Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome
The purpose of this study is to determine the tolerability and optimal dose of cannabidiol (CBD) as an simultaneous treatment in children and young adults with Sturge-Weber syndrome (SWS) and drug resistant epilepsy.
- Trial name
- NCT02332655
- Testing
- Cannabidiol
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Anne Comi, MD
Neurofibromatosis Type 2, Progressive Vestibular Schwannomas
Phase 2 Study of Bevacizumab in Children and Young Adults With NF 2 and Progressive Vestibular Schwannomas
To determine the hearing response rate at 24 weeks after treatment with bevacizumab for symptomatic vestibular schwannomas (VS) in children and young adults with Neurofibromatosis Type 2 (NF 2).
- Trial name
- NCT01767792
- Testing
- Bevacizumab
- Where
- 12 sites in United States
- Volunteers
- 22 people
- Sponsor
- University of Alabama at Birmingham
Plexiform Neurofibroma, Neurofibromatosis Type 1 (NF1)
MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas
This study evaluates mirdametinib (PD-0325901) in the treatment of symptomatic inoperable neurofibromatosis type-1 (NF1)-associated plexiform neurofibromas (PNs). All participants will receive mirdametinib (PD-0325901).
- Trial name
- ReNeu (NCT03962543)
- Testing
- Mirdametinib (PD-0325901) oral capsule or dispersible tablet
- Where
- 43 sites in United States
- Volunteers
- 114 people
- Sponsor
- SpringWorks Therapeutics, Inc., a healthcare company of Merck KGaA, Darmstadt, Germany
VHL Gene Mutation, VHL
MK-3795 (PT2385) for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma (MK-3795-003)
The primary objective of this study is to assess the overall response rate (ORR) of von Hippel-Lindau (VHL) disease-associated clear cell renal cell carcinoma (ccRCC) tumors in VHL participants treated with MK-3795.
- Conditions
- VHL Gene Mutation, VHL, VHL Syndrome, VHL Gene Inactivation
- Trial name
- NCT03108066
- Testing
- MK-3795
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Peloton Therapeutics, Inc., a subsidiary of Merck & Co., Inc. (Rahway, New Jersey USA)