Clinical trials: Phacomatosis
Neurofibromatosis 1, Plexiform Neurofibroma (PN)
Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas
A global study to demonstrate the effectiveness of selumetinib in participants with NF1 who have symptomatic, inoperable plexiform neurofibromas.
- Trial name
- KOMET (NCT04924608)
- Testing
- Selumetinib
- Where
- 34 sites in United States, Australia and 11 more
- Volunteers
- 145 people
- Sponsor
- AstraZeneca
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
Ataxia Telangiectasia, Genetic Syndrome
Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study
Primary Objective To monitor and evaluate the long-term safety and tolerability of EDS-EP in AT patients. Secondary Objective To evaluate the long-term effect of EDS-EP on health-related Quality of Life (QoL; EQ-5D-5L scale).
- Trial name
- OLE-IEDAT (NCT03563053)
- Testing
- EryDex System
- Where
- 17 sites in United States, Australia and 9 more
- Volunteers
- 104 people
- Sponsor
- Quince Therapeutics S.p.A.
Plexiform Neurofibroma Associated With Neurofibromatosis Type 1
Efficacy and Safety of RAD001 in Treating Plexiform Neurofibromas (PN) Associated With Neurofibromatosis (NF1)
This study was to evaluate the antitumor activity and safety of RAD001 in patients with Plexiform neurofibromas (PN) associated with Neurofibromatosis Type 1 (NF1). The aim of the study was to : 1.
- Trial name
- NCT01365468
- Testing
- Everolimus (RAD001)
- Where
- 2 sites in Israel
- Volunteers
- 9 people
- Sponsor
- Novartis Pharmaceuticals
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
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, 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.
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
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)
Facial Angiofibroma, Tuberous Sclerosis
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex
The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC).
- Trial name
- NCT03826628
- Testing
- rapamycin
- Where
- 17 sites in United States, Australia and 7 more
- Volunteers
- 107 people
- Sponsor
- Dermatology Specialties Limited Partnership
Neurofibromatosis Type 1
Pharmacokinetics, Safety and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With NF1-related Symptomatic, Inoperable PN
This study is designed to define a dosing regimen and assess the pharmacokinetics(PK) and safety of the granule formulation; the study will also include descriptive analyses of exploratory efficacy endpoints.
- Trial name
- SPRINKLE (NCT05309668)
- Testing
- Selumetinib granule formulation, Selumetinib capsule formulation
- Where
- 16 sites in United States, Germany and 5 more
- Volunteers
- 36 people
- Sponsor
- AstraZeneca
Tumor Induced Osteomalacia (TIO), Epidermal Nevus Syndrome (ENS)
Study of Burosumab (KRN23) in Adults With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)
The primary objectives of this study are to evaluate the effect of burosumab treatment on: Increasing serum phosphorus levels in adults with TIO or ENS-associated osteomalacia Improvement in TIO/ENS-associated osteomalacia as…
- Trial name
- NCT02304367
- Testing
- Burosumab
- Where
- 7 sites in United States
- Volunteers
- 17 people
- Sponsor
- Kyowa Kirin, Inc.
Ataxia Telangiectasia
Evaluate the Neurological Effects of EryDex on Subjects With A-T
This is an international, multi-center, randomized, prospective, double-blind, placebo-controlled, Phase 3 study, designed to assess the effect of EryDex (dexamethasone sodium phosphate [DSP] in autologous erythrocytes)…
- Trial name
- NEAT (NCT06193200)
- Testing
- Dexamethasone sodium phosphate
- Where
- 19 sites in United States, Denmark and 7 more
- Volunteers
- 105 people
- Sponsor
- Quince Therapeutics S.p.A.
Renal Angiomyolipoma
Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex.
The purpose of this study was to assess the safety and efficacy of everolimus (Afinitor®) in Chinese patients with renal angiomyolipoma (AML) associated with tuberous sclerosis complex (TSC).
- Trial name
- NCT03525834
- Testing
- Everolimus
- Where
- 5 sites in China
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals
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.
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