Clinical Trials on Neurocutaneous Syndromes

Total 34180 results

Jazz Pharmaceuticals

Active, not recruiting

Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution

Tuberous Sclerosis Complex | Dravet Syndrome | Lennox Gastaut Syndrome

United States
Assiut University

Not yet recruiting

Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children

Neurocutaneous Syndromes
NYU Langone Health

Withdrawn

Turmeric as Treatment in Epilepsy

Epilepsy | Tuberous Sclerosis | Dravet Syndrome | Focal Seizures | Lennox-Gastaut Syndrome

United States
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Completed

Pazopanib Hydrochloride in Treating Patients With Von Hippel-Lindau Syndrome

Von Hippel-Lindau Syndrome

United States
M.D. Anderson Cancer Center
Novartis

Terminated

TKI 258 in Von Hippel-Lindau Syndrome (VHL)

Von Hippel-Lindau Syndrome

United States
National Eye Institute (NEI)

Terminated

Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome (VHL3)

Von Hippel-Lindau Syndrome

United States
National Eye Institute (NEI)

Completed

Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome

Von Hippel-Lindau Syndrome

United States
Laura Tosi
Children's National Research Institute; Ultragenyx Pharmaceutical Inc

Active, not recruiting

Burosumab for CSHS

Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS) | Epidermal Nevus Syndrome

United States
Clinica Universidad de Navarra, Universidad de...

Completed

Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome (RSW)

Sturge- Weber Syndrome

Spain
Hugo W. Moser Research Institute at Kennedy Krieger...
Baylor College of Medicine; New York University; National Institute of Neurological... and other collaborators

Active, not recruiting

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Sturge-Weber Syndrome

United States
Hugo W. Moser Research Institute at Kennedy Krieger...
National Institute of Neurological Disorders and Stroke (NINDS); National Institutes... and other collaborators

Completed

Biomarker Development in Sturge-Weber Syndrome (Pilot)

Sturge-Weber Syndrome

United States
Johns Hopkins University
Vascular Birthmarks Foundation

Completed

Use of the Atkins Diet for Children With Sturge Weber Syndrome

Epilepsy | Sturge Weber Syndrome

United States
University of Illinois at Chicago
Wayne State University; Boston Children's Hospital; Duke University; University... and other collaborators

Recruiting

Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

Sturge-Weber Syndrome

United States
Anne Comi, MD
Jazz Pharmaceuticals; Faneca 66 Foundation

Completed

Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome

Sturge-Weber Syndrome

United States
National Eye Institute (NEI)

Completed

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

Von Hippel-Lindau Syndrome

United States
Jazz Pharmaceuticals

Recruiting

Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures

Seizure in Participants With Tuberous Sclerosis Complex | Seizure in Participants With Dravet Syndrome | Seizure in Participants With Lennox-Gastaut Syndrome

United States
University of California, Irvine
Mainz University

Completed

Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)

Sturge - Weber Syndrome (SWS)

United States
Wayne State University
National Institutes of Health (NIH)

Recruiting

Longitudinal Neuroimaging in Sturge-Weber Syndrome

Sturge-Weber Syndrome

United States
National Cancer Institute (NCI)

Recruiting

Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial

Neurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome

United States
Wills Eye
University of Medicine and Dentistry of New Jersey

Terminated

Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol

Sturge Weber Syndrome | Port-wine Mark

United States
Baylor College of Medicine
Novartis Pharmaceuticals

Withdrawn

Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)

Sturge Weber Syndrome

United States
Anne Comi, MD
Jazz Pharmaceuticals; Faneca 66 Foundation

Completed

Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome

Sturge-Weber Syndrome

United States
University of Alabama at Birmingham
Ultragenyx Pharmaceutical Inc

Completed

A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS) (ENS)

Epidermal Nevus Syndrome

United States
University Hospital, Tours

Completed

French National Cohort of Children With Port Wine Stain (CONAPE)

Port Wine Stain | Parkes Weber Syndrome | Klippel Trenaunay Syndrome

France
Qlaris Bio, Inc.

Completed

Safety and Tolerability Study of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP)

Ocular Hypertension | Glaucoma | Sturge-Weber Syndrome

United States
National Cancer Institute (NCI)

Completed

Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)

Neurofibromatosis Type 1 | Legius Syndrome

United States
Sohag University

Recruiting

Ahmed Valve Implantation Coated With Poly Lactic -Co-glycolic Acid (PLGA) Saturated With Mitomycin-C in the Management of Adult Onset Glaucoma in Sturge Weber Syndrome

Glaucoma

Egypt
Medical University Innsbruck

Unknown

Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation (CMMRD in NF1)

Neurofibromatosis Type 1
National Institutes of Health Clinical Center (CC)
National Cancer Institute (NCI)

Completed

Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome

Kidney Cancer | Von Hippel-lindau Syndrome

United States
The Second Hospital of Tangshan
Chinese PLA General Hospital

Completed

Repair of Soft Tissue Defect of the Finger Using the Heterodigital Neurocutaneous Island Flap

Sensory Reconstruction of the Volar Aspect of the Finger | The Heterodigital Neurocutaneous Island Flap

China
Rush University Medical Center
Emory University

Enrolling by invitation

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Tuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial Deletion

United States
Anne Comi, MD
Pfizer; National Institute of Neurological Disorders and Stroke (NINDS); National... and other collaborators

Completed

Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Sturge-Weber Syndrome

United States
Qlaris Bio, Inc.

Completed

A Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101

Ocular Hypertension | Glaucoma | Glaucoma Congenital | Sturge-Weber Syndrome (SWS)

United States
IntraBio Inc

Recruiting

N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

Ataxia Telangiectasia | Louis Bar Syndrome

Spain, United States, Germany, United Kingdom
Quince Therapeutics S.p.A.

Completed

Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients (ATTeST)

Genetic Syndrome | Nervous System Disease

India, United States, Australia, Germany, Italy, Norway, Poland, Spain, Tunisia, United Kingdom, Israel, Belgium
Children's Hospital Medical Center, Cincinnati

Recruiting

RASopathy Biorepository

Neurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome | SYNGAP1-Related Intellectual Disability | DLG4 | RAS Mutation | Noonan Syndrome With Multiple Lentigines | Noonan Neurofibromatosis Syndrome | Smith-Kingsmore Syndrome | MTOR Gene Mutation | GATOR-1 Gene... and other conditions

United States
National Cancer Institute (NCI)

Completed

Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors

Neuroendocrine Tumors | Von Hippel-Lindau Syndrome | Hippel-Lindau Disease

United States
Therapeutic Advances in Childhood Leukemia Consortium

Recruiting

A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia

Neurofibromatosis 1 | JMML | Leukemia, Juvenile Myelomonocytic | JCML | CBL Syndrome

United States
Peking Union Medical College Hospital

Recruiting

68Ga-NY104 PET/CT in Von Hippel-Lindau Disease

Von Hippel-Lindau Disease

China
Institut de Recherches Internationales Servier
Servier Bio-Innovation LLC

Not yet recruiting

Ivosidenib (IVO) Monotherapy and Azacitidine (AZA) Monotherapy in Patients With Hypomethylating Agent (HMA) Naive Myelodysplastic Syndromes (MDS) With an IDH1 Mutation (PyramIDH)

Myelodysplastic Syndromes (MDS) | Hypomethylating Agent (HMA) Naive Myelodysplastic Syndromes (MDS)
Fred Hutchinson Cancer Center
National Cancer Institute (NCI)

Completed

Azacitidine and Etanercept in Treating Patients With Myelodysplastic Syndromes

Previously Treated Myelodysplastic Syndromes | Secondary Myelodysplastic Syndromes | de Novo Myelodysplastic Syndromes

United States
National Cancer Institute (NCI)

Completed

Belinostat in Treating Patients With Myelodysplastic Syndromes

Previously Treated Myelodysplastic Syndromes | Secondary Myelodysplastic Syndromes | de Novo Myelodysplastic Syndromes

United States
National Cancer Institute (NCI)

Completed

Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease

Von Hippel-Lindau Disease

United States
Cardiff University
Novartis

Unknown

A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis (TRON)

Tuberous Sclerosis

United Kingdom
Memorial Sloan Kettering Cancer Center

Recruiting

Neurocutaneous Melanocytosis Registry

Cutaneous Melanocytic Neoplasm | Large Cutaneous Melanocytic Nevi | Neurocutaneous Melanocytosis

United States
National Heart, Lung, and Blood Institute (NHLBI)
Uniformed Services University of the Health Sciences

Recruiting

Study of Skin Tumors in Tuberous Sclerosis

Tuberous Sclerosis

United States
Marinus Pharmaceuticals

Completed

Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B) (TSC)

Tuberous Sclerosis

United States
TJ Biopharma Co., Ltd.

Recruiting

A Phase 3 Clinical Study to Evaluate Lemzoparlimab for Injection in Combination With Azacitidine (AZA) Versus AZA Monotherapy in Treatment-naïve Patients With Higher-risk Myelodysplastic Syndrome (MDS)

Myelodysplastic Syndromes(MDS)

China
National Heart, Lung, and Blood Institute (NHLBI)
National Cancer Institute (NCI)

Recruiting

The National Myelodysplastic Syndromes (MDS) Study (MDS)

Myelodysplastic Syndromes (MDS)

United States, Israel
AbbVie
Genentech, Inc.

Active, not recruiting

A Study Evaluating Venetoclax in Combination With Azacitidine in Participants With Treatment-Naïve Higher-Risk Myelodysplastic Syndromes (MDS)

Myelodysplastic Syndromes (MDS)

United States, Australia, Canada, France, Germany, Italy, United Kingdom

Clinical Trials on Neurocutaneous Syndromes

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