Clinical trials: Phacomatosis
Angiofibroma of Face, Tuberous Sclerosis
Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex
The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric…
- Trial name
- NCT03363763
- Testing
- Sirolimus 0.2%, Sirolimus 0.4%
- Where
- 8 sites in United States, China
- Volunteers
- 24 people
- Sponsor
- Aucta Pharmaceuticals, Inc
Ataxia Telangiectasia
Open-Label Extension of EryDex Study IEDAT-04-2022
This is an international, multi-center, prospective, open-label, non-comparative study aiming to provide access to treatment with EryDex to ataxia telangiectasia (A-T) patients who completed the IEDAT-04-2022 trial which studied…
- Trial name
- OLE_NEAT (NCT06664853)
- Testing
- Dexamethasone sodium phosphate
- Where
- 21 sites in United States, Denmark and 7 more
- Volunteers
- 101 people
- Sponsor
- Quince Therapeutics S.p.A.
Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma
A Study of HS-10516 in Patients With VHL Syndrome Associated Tumors
The aim of the Phase Ia portion is to identify the maximum tolerated dose or maximum acceptable dose MTD/MAD of HS-10516. The phase Ib portion will evaluate the preliminary efficacy of HS-10516 in patients with VHL Syndrome…
- Trial name
- NCT06553339
- Testing
- Oral HS-10516
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Ataxia Telangiectasia
N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T).
- Trial name
- NCT03759678
- Testing
- IB1001
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 17 people
- Sponsor
- IntraBio Inc
Developmental and Epileptic Encephalopathy, Dravet Syndrome
Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
The objective of this study is to assess the long-term safety, tolerability, and efficacy of adjunctive therapy of LP352 in subjects with developmental and epileptic encephalopathies who completed participation in Study LP352-201.
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- NCT05626634
- Testing
- LP352, bexicaserin
- Where
- 28 sites in United States, Australia
- Volunteers
- 41 people
- Sponsor
- Longboard Pharmaceuticals
Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor
Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
This is a study to evaluate the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated…
- Conditions
- Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor, Von Hippel-Lindau Disease, Advanced Gastrointestinal Stromal Tumor
- Trial name
- NCT04924075
- Testing
- Belzutifan
- Where
- 84 sites in United States, Australia and 20 more
- Volunteers
- 355 people
- Sponsor
- Merck Sharp & Dohme LLC
Diffuse Astrocytoma, Anaplastic Astrocytoma
Pediatric Long-Term Follow-up and Rollover Study
A roll-over study to assess long-term effect in pediatric patients treated with dabrafenib and/or trametinib.
- Conditions
- Diffuse Astrocytoma, Anaplastic Astrocytoma, Astrocytoma, Oligodendroglioma, Childhood
- Trial name
- NCT03975829
- Testing
- dabrafenib, trametinib
- Where
- 54 sites in United States, Argentina and 17 more
- Volunteers
- 163 people
- Sponsor
- Novartis Pharmaceuticals
Lennox Gastaut Syndrome, Dravet Syndrome
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- NCT05044819
- Testing
- Cannabidiol
- Where
- 26 sites in United States
- Volunteers
- 154 people
- Sponsor
- Jazz Pharmaceuticals
Sturge-Weber Syndrome (SWS), Glaucoma
A Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101
Safety and tolerability study of 2 concentrations of QLS-101 for adult subjects with Sturge Weber Syndrome (SWS)-related glaucoma due to elevated episcleral venous pressure (EVP).
- Conditions
- Sturge-Weber Syndrome (SWS), Glaucoma, Glaucoma Congenital, Ocular Hypertension
- Trial name
- NCT04947124
- Testing
- QLS-101ophthalmic solution 1%, QLS-101ophthalmic solution 2%
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Qlaris Bio, Inc.
Tuberous Sclerosis Complex
Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
- Trial name
- NCT05604170
- Testing
- Ganaxolone
- Where
- 54 sites in United States, Australia and 8 more
- Volunteers
- 117 people
- Sponsor
- Marinus Pharmaceuticals
Breast Cancer Metastatic, Renal Cell Carcinoma (RCC)
Sapu003 in Advanced mTOR-sensitive Solid Tumors
This is a phase 1b, open-label, dose-escalation study to evaluate the safety, tolerability, pharmacokinetics of Sapu003 in combination with Exemestane in in patients with advanced mTOR-sensitive solid tumors (HR+/HER2-negative…
- Conditions
- Breast Cancer Metastatic, Renal Cell Carcinoma (RCC), Neuroendocrine Tumors, Tuberous Sclerosis Complex (TSC)
- Trial name
- NCT07369505
- Testing
- Sapu003, Exemestane 25 MG
- Where
- Australia
- Volunteers
- 27 people
- Sponsor
- SAPU NANO (US) LLC
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.
Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome
A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome
Before switching to the post-marketing study: To evaluate the efficacy and safety of KRN23 after its 144-week once every 4 weeks (Q4W) repeated SC administration to Japanese and Korean patients with TIO or ENS by a multicenter…
- Trial name
- NCT02722798
- Testing
- KRN23
- Where
- 3 sites in Japan, South Korea
- Volunteers
- 14 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Age-Related Macular Degeneration
Study of Safety and Efficacy of Brolucizumab 6 mg Dosed Every 4 Weeks Compared to Aflibercept 2 mg Dosed Every 4 Weeks in Patients With Retinal Fluid Despite Frequent Anti-VEGF Injections
This clinical study was designed to compare the safety and efficacy of brolucizumab 6 mg dosed every 4 weeks to aflibercept 2 mg dosed every 4 weeks in those neovascular age-related macular degeneration (nAMD) patients with…
- Trial name
- MERLIN (NCT03710564)
- Testing
- Brolucizumab, Aflibercept
- Where
- 61 sites in United States, Puerto Rico
- Volunteers
- 535 people
- Sponsor
- Novartis Pharmaceuticals
Epilepsy, Dravet Syndrome
A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies
The purpose of this study is to investigate the effect on the frequency of all seizures (convulsive and drop) in participants treated with TAK-935 compared to placebo.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- ELEKTRA (NCT03650452)
- Testing
- TAK-935
- Where
- 44 sites in United States, Australia and 6 more
- Volunteers
- 141 people
- Sponsor
- Takeda
Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome
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
This study will be conducted to evaluate the safety, pharmacokinetics (PK), and efficacy of adjunctive GWP42003-P in participants < 2 years of age with tuberous sclerosis complex (TSC), Lennox-Gastaut syndrome (LGS), or Dravet…
- Conditions
- Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome, Seizure in Participants With Lennox-Gastaut Syndrome
- Trial name
- NCT04485104
- Testing
- GWP42003-P
- Where
- 11 sites in United States, Italy and 1 more
- Volunteers
- 3 people
- Sponsor
- Jazz Pharmaceuticals
Malignant PEComa (Perivascular Epithelioid Cell Tumors)
A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa
Study objectives: The primary objective is to determine the efficacy of BEZ235 on Objective Response Rate (best response on study) according to RECIST 1.1 criteria The secondary objectives are: To determine the progression free…
- Trial name
- NCT01690871
- Testing
- BEZ235
- Where
- Spain
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis, Angiofibroma
Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex
The purpose of this trial is to evaluate the safety and efficacy of long-term treatment with NPC-12G gel (0.2% sirolimus gel) to angiofibroma and other skin lesions in patients with tuberous sclerosis complex in the open-label…
- Conditions
- Tuberous Sclerosis, Angiofibroma, Hypomelanotic Macule, Plaque
- Trial name
- NCT02634931
- Testing
- NPC-12G gel
- Where
- Japan
- Volunteers
- 94 people
- Sponsor
- Nobelpharma
Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC)
Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)
This is a multinational, open-label, single-arm trial of adjunctive SVG103 (paxalisib) treatment in adults with FCD-II, TSC, and HME.
- Conditions
- Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC), Hemimegalencephaly
- Trial name
- NCT07287202
- Testing
- SVG103
- Where
- 2 sites in Australia
- Volunteers
- 12 people
- Sponsor
- Sovargen
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