Clinical trials: Genetic Cancer Syndromes
- Condition Genetic Cancer Syndromes
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Congenital Myasthenic Syndrome, Lambert-Eaton Myasthenic Syndrome
Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome
Primary: The primary objective of this study under the original protocol was to provide neuromuscular specialists and neurologists access to amifampridine phosphate therapy for their patients with LEMS, CMS or downbeat nystagmus…
- Conditions
- Congenital Myasthenic Syndrome, Lambert-Eaton Myasthenic Syndrome, Nystagmus, Acquired
- Trial name
- EAP-001 (NCT02189720)
- Testing
- Amifampridine Phosphate
- Where
- United States
- Sponsor
- Catalyst Pharmaceuticals, Inc.
Tuberous Sclerosis Complex
Clinical Study of NPC-12Y Gel in Patients With Skin Lesions Associated With TSC
The purpose of this study is to investigate the efficacy and safety of NPC-12Y gel compared with placebo for skin lesions associated with tuberous sclerosis.
- Trial name
- NCT05495425
- Testing
- NPC-12Y gel
- Where
- 5 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Nobelpharma
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
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 Type 2
Efficacy and Safety of REC-2282 in Patients With Progressive Neurofibromatosis Type 2 (NF2) Mutated Meningiomas
This is a two-staged, Phase 2/3, randomized, multi-center study to investigate the efficacy and safety of REC-2282 in participants with progressive NF2 mutated meningiomas.
- Trial name
- POPLAR-NF2 (NCT05130866)
- Testing
- REC-2282
- Where
- 15 sites in United States, United Kingdom
- Volunteers
- 25 people
- Sponsor
- Recursion Pharmaceuticals Inc.
Pediatric Oncology
A Phase I Dose Finding Study in Children With Solid Tumors Recurrent or Refractory to Standard Therapy
Dose escalation phase of the study : To define the safety profile, maximum tolerated dose (MTD) and recommended phase II dose (RP2D) of regorafenib administered orally as a single agent in a 3-weeks-on/1- week-off schedule in…
- Trial name
- NCT02085148
- Testing
- Regorafenib (BAY73-4506), Vincristine (Cellcristin®), Irinotecan (Irinotecan Cell pharm®)
- Where
- 12 sites in France, Italy and 2 more
- Volunteers
- 62 people
- Sponsor
- Bayer
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
Hematologic Malignancies
A Single-arm Safety Study of Transplantation Using Umbilical Cord Blood and Human Placental-derived Stem Cells From Partially Matched Related Donors in Persons With Certain Malignant Blood Diseases and Non-malignant Disorders
To investigate the safety of partially matched related human placental-derived stem cells (HPDSC) administered in conjunction with umbilical cord blood (UCB) stem cells from the same donor in subjects with various malignant or…
- Trial name
- HPDSC (NCT00596999)
- Testing
- UCB and HPDSC
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Celgene Corporation
Bone Marrow Transplant (BMT)
HPC Offered for PRESERVE Expansion
Ossium recognizes that not all patients who could benefit from Ossium's HPC, Marrow can access the PRESERVE trial for logistical or eligibility reasons.
- Trial name
- HOPE (NCT07145411)
- Testing
- Bone Marrow Transplant with Ossium's HPC, Marrow (bone marrow recovered from deceased organ and tissue donors)
- Where
- 5 sites in United States
- Volunteers
- 10 people
- Sponsor
- Ossium Health, Inc.
Neurofibromatosis Type 1
A Phase 2, Open-Label Study to Evaluate the Safety and Effects of HLX-1502 in Patients With Neurofibromatosis Type 1
The trial will be an open label, single arm, phase 2 study to assess the tolerability and efficacy of HLX-1502 in participants with NF1 that are 16 years or older in age with progressive and/or symptomatic PN.
- Trial name
- INSPIRE-NF1 (NCT06541847)
- Testing
- HLX-1502
- Where
- 14 sites in United States
- Volunteers
- 25 people
- Sponsor
- Healx Limited
Nevi, Dysplastic
INTER-PATHOLOGIST READER STUDY
This is a post study histology analysis from previously obtained pathology slides.
- Trial name
- NCT06246903
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Orlucent, Inc
Neurofibromatosis Type 1
Phase I Study to Assess the Effect of Food on the PK and Gastrointestinal Tolerability of Selumetinib in Adolescent Children With Neurofibromatosis Type 1 Related Plexiform Neurofibromas
This study in adolescent participants with NF1 who have inoperable PN is designed to evaluate the effect of a low fat meal on steady state selumetinib exposure; to assess the effect on GI tolerability when selumetinib is dosed…
- Trial name
- NCT05101148
- Testing
- Selumetinib
- Where
- 9 sites in United States, Poland and 2 more
- Volunteers
- 24 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
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
Sleep Problems
Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances
There is increasing evidence that chronic sleep disorders in children with autism spectrum disorder (ASD), Angelman Syndrome (AS) and Smith-Magenis syndrome (SMS) are associated with disturbed melatonin secretion and melatonin…
- Trial name
- NCT01903681
- Testing
- Circadin 2 mg, Circadin 10 mg
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Neurofibromatosis
Clinical and Demographic Characteristics of Adult p Atients With NEurofibromatosis in RUSsia
Clinical and Demographic Characteristics of Adult Patients with NEurofibromatosis in RUSsia (NEREUS)
- Trial name
- NEREUS (NCT07088991)
- Where
- 16 sites in Russia
- Volunteers
- 200 people
- Sponsor
- AstraZeneca
Exostoses, Multiple Hereditary
An Efficacy and Safety Study of Palovarotene for the Treatment of MO
This is a randomized, double-blind, placebo-controlled study comparing the safety and efficacy of 2 dosage regimens of palovarotene versus placebo in preventing disease progression in pediatric subjects with multiple…
- Trial name
- MO-Ped (NCT03442985)
- Testing
- Palovarotene 2.5 mg, Palovarotene 5.0 mg
- Where
- 31 sites in United States, Australia and 10 more
- Volunteers
- 193 people
- Sponsor
- Clementia Pharmaceuticals Inc.
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
WHIM Syndrome
A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
This natural history study is a prospective and retrospective, observational study of WHIM patients. WHIM syndrome is a rare, genetic, primary immunodeficiency disorder (a disorder in which the body's immune system does not…
- Trial name
- NCT03087370
- Testing
- No intervention
- Sponsor
- X4 Pharmaceuticals
Neuroblastoma, Rhabdomyosarcoma
Enoblituzumab (MGA271) in Children With B7-H3-expressing Solid Tumors
This study is a Phase 1, open-label, dose escalation and cohort expansion trial designed to characterize the safety, tolerability, PK, PD, immunogenicity and preliminary antitumor activity of enoblituzumab administered IV on a…
- Conditions
- Neuroblastoma, Rhabdomyosarcoma, Osteosarcoma, Ewing Sarcoma
- Trial name
- NCT02982941
- Testing
- Enoblituzumab
- Where
- 6 sites in United States
- Volunteers
- 25 people
- Sponsor
- MacroGenics