Clinical trials: Phacomatosis
NF1 Mutation, Neurofibroma Plexiform
PAS-004 in Adults Who Have Neurofibromatosis Type 1 With Plexiform Neurofibromas
The main purpose of this clinical trial is to test PAS-004 in people with at least one symptomatic plexiform neurofibroma due to Neurofibromatosis Type 1 (NF1).
- Conditions
- NF1 Mutation, Neurofibroma Plexiform, Neurofibroma, Plexiform, Neurofibromatosis Type 1 (NF1)-Related Plexiform Neurofibromas (PNs)
- Trial name
- NCT06961565
- Testing
- PAS-004 Tablets
- Where
- 5 sites in United States, Australia and 1 more
- Volunteers
- 56 people
- Sponsor
- Pasithea Therapeutics Corp.
Tuberous Sclerosis Complex
Basimglurant (NOE-101) in Children, Adolescents, and Young Adults With TSC
The study intends to show that basimglurant (NOE-101) provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).
- Trial name
- NCT05059327
- Where
- 27 sites in United States, India and 6 more
- Volunteers
- 61 people
- Sponsor
- Noema Pharma AG
Sturge-Weber Syndrome, Glaucoma
Safety and Tolerability Study of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP)
Open-label study of an investigational product (IP), QLS-101, with 28-day every morning (QAM) dosing to both eyes (OU) in adolescents with SWS who have clinical evidence of glaucoma and/or ocular hypertension (OHT) related to SWS…
- Conditions
- Sturge-Weber Syndrome, Glaucoma, Ocular Hypertension
- Trial name
- NCT05495269
- Testing
- QLS-101 ophthalmic solution, 2.0 %
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Qlaris Bio, Inc.
Neurofibromatosis 1
Analysis of Plasma for Diagnosis and Follow-up of Neurofibromatosis Type 1
The purpose of this study is to find blood plasma based biomarkers of disease progression in neurofibromatosis type 1 (NF1). NF1 is associated with the development of benign cutaneous tumors as well as a variety of malignancies.
- Trial name
- NCT02680431
- Testing
- Blood sample
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Juha Peltonen
Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC)
18F-T2 PET/CT Imaging for CAIX Positive Solid Tumors
The goal of this clinical trial is to evaluate the diagnostic value of CAIX protein specific probe 18F-T2 in PET/CT imaging in participants with solid tumors.
- Conditions
- Clear Cell Renal Cell Cancer (ccRCC), Urothelial Carcinoma (UC), Colorectal Cancer, Cervical Cancer
- Trial name
- NCT07557225
- Testing
- 18F-T2 PET/CT
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Peking University First Hospital
Vascular Diseases, Vascular Malformation
A New Approach in Laser Surgery Using the Regenerative Solution in Children Diagnosed With Vascular Pathology
Laser treatment (LT) is the first-line treatment for Vascular Pathology. However even when LT is based on the selective photothermolysis it causes the first-degree burns.
- Conditions
- Vascular Diseases, Vascular Malformation, Capillary Malformation-Arteriovenous Malformation, Port-Wine Stain
- Trial name
- DOUBLE-SKIN (NCT04999618)
- Testing
- Haemoblock
- Where
- Russia
- Volunteers
- 200 people
- Sponsor
- Center for Vascular Pathology, Moscow
Leukemia, Juvenile Myelomonocytic, JMML
A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia
This clinical trial will test the safety and efficacy of combining trametinib and azacitidine in patients with juvenile myelomonocytic leukemia (JMML).
- Conditions
- Leukemia, Juvenile Myelomonocytic, JMML, JCML, Neurofibromatosis 1
- Trial name
- NCT05849662
- Testing
- Trametinib, Azacitidine, Fludarabine
- Where
- 21 sites in United States
- Volunteers
- 58 people
- Sponsor
- Therapeutic Advances in Childhood Leukemia Consortium
VHL Pancreatic Neuroendocrine Tumors, Von Hippel-Lindau Disease
Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors
Background: People with von Hippel-Lindau (VHL) can have problems with a variety of organs, such as the pancreas. The disease can cause tumors of the pancreas. This can result in life-threatening complications.
- Conditions
- VHL Pancreatic Neuroendocrine Tumors, Von Hippel-Lindau Disease, Neuroendocrine Tumors
- Trial name
- NCT04074135
- Testing
- 68-Gallium DOTATATE
- Where
- United States
- Volunteers
- 740 people
- Sponsor
- National Cancer Institute (NCI)
Neurofibromatosis 1, NF1
Reliability of Functional Outcome Measures in Neurofibromatosis 1
Neurofibromatosis 1 (NF1) is a common inherited condition that affects the skin, bone and nervous system. The complications of NF1 are widespread and can lead to varied difficulties dependent on the location of neurofibromas and…
- Trial name
- NCT02479360
- Where
- United Kingdom
- Volunteers
- 49 people
- Sponsor
- Guy's and St Thomas' NHS Foundation Trust
Von Hippel-Lindau Disease, Hemangioblastoma
Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease
Von Hippel Lindau disease (VHLD) is an inherited syndrome characterized by vascular malformations, kidney cancer, adrenal gland and pancreas tumors.
- Conditions
- Von Hippel-Lindau Disease, Hemangioblastoma, Renal Cell Carcinoma, Pheochromocytoma
- Trial name
- VHLimage (NCT00970970)
- Testing
- 89Zr bevacizumab PET scan
- Where
- Netherlands
- Volunteers
- 22 people
- Sponsor
- University Medical Center Groningen
Ataxia Telangiectasia
Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
This project aims to evaluate the safety and efficacy of precision genetic therapy for patients with Ataxia-telangiectasia (A-T), a rare neurodegenerative disease caused by mutations in the ATM gene.
- Trial name
- NCT07215416
- Testing
- Antisense oligonucleotide targeting the ATM gene
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Timothy Yu
Renal Angiomyolipoma
A Phase IV Study of Safety and Efficacy of Everolimus in Taiwanese Patients With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma (TSC-AML)
The purpose of this prospective study is to assess the safety and efficacy of everolimus in Taiwanese patients with renal angiomyolipoma (AML) associated with tuberous sclerosis complex (TSC) .
- Trial name
- NCT05252585
- Testing
- Everolimus
- Where
- 4 sites in Taiwan
- Volunteers
- 4 people
- Sponsor
- Novartis Pharmaceuticals
Ataxia Telangiectasia
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility.
- Trial name
- NCT03357978
- Testing
- bioelectrical impedance analysis, blood draw, transient elastography (FibroScan)
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Advanced Malignant Neoplasm, Castleman Disease
Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease
This phase I trial studies the side effects and best dose of bevacizumab and temsirolimus alone or in combination with valproic acid or cetuximab in treating patients with a malignancy that has spread to other places in the body…
- Conditions
- Advanced Malignant Neoplasm, Castleman Disease, Digestive System Carcinoma, Erdheim-Chester Disease
- Trial name
- NCT01552434
- Testing
- Bevacizumab, Cetuximab, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 154 people
- Sponsor
- M.D. Anderson Cancer Center
Neurofibromatosis Type 1
Neurofibromatosis Type 1 Patient Registry
The Neurofibromatosis Type 1 (NF1) Patient Registry Initiative (NPRI) is a web-based registry that asks participants to fill out a 30-minute online questionnaire to collect information about the spectrum of medical and social…
- Trial name
- NPRI (NCT01410006)
- Where
- United States
- Volunteers
- 2,391 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Neurofibromatosis Type 1, Sarcoma
Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors
RATIONALE: Drugs used in chemotherapy, such as doxorubicin, ifosfamide, and etoposide, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing.
- Trial name
- NCT00304083
- Testing
- filgrastim, doxorubicin hydrochloride, etoposide
- Where
- 17 sites in United States
- Volunteers
- 48 people
- Sponsor
- Sarcoma Alliance for Research through Collaboration
Tuberous Sclerosis Complex
Studies in Patients With Tuberous Sclerosis Complex
This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected…
- Trial name
- NCT03276195
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Translational Genomics Research Institute
Brain and Central Nervous System Tumors, Neurofibromatosis Type 1
Vinblastine and Carboplatin in Treating Young Patients With Newly Diagnosed or Recurrent Low-Grade Glioma
RATIONALE: Drugs used in chemotherapy, such as vinblastine and carboplatin, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing.
- Trial name
- NCT00352495
- Testing
- carboplatin, vinblastine sulfate
- Where
- 21 sites in United States, Canada
- Volunteers
- 26 people
- Sponsor
- Children's Oncology Group
Neurofibromatosis Type 1
Subtle Myocardial Deformation Abnormalities in Asymptomatic Nf-1 Patients
Subtle myocardial deformation abnormalities in asymptomatic nf-1 patients: is cardiac screening needed?
- Trial name
- NCT02505412
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Solid Tumor
PF-07284892 in Participants With Advanced Solid Tumors
The purpose of this first-in-patient, open label study is to determine the maximum tolerated dose and/or recommended dose for further study of PF-07284892 as a single agent and in combination with lorlatinib, encorafenib and…
- Trial name
- NCT04800822
- Testing
- PF-07284892, lorlatinib, binimetinib
- Where
- 11 sites in United States
- Volunteers
- 53 people
- Sponsor
- Pfizer