Clinical trials: Hereditary Cancer Syndrome
- Condition Hereditary Cancer Syndrome
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Neurofibromatosis
A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I
The purpose of this tria is to evaluate the safety and efficacy of long-term treatment with NPC-12G gel to patients with neurofibromatosis type I.
- Trial name
- NCT04461886
- Testing
- NPC-12G gel
- Where
- 4 sites in Japan
- Volunteers
- 100 people
- Sponsor
- Nobelpharma
Tuberous Sclerosis Complex (TSC)
Treatment With Full-spectrum Cannabis Extract of Refractory Epilepsy Associated With Tuberous Sclerosis Complex (TSC)
1. To assess treatment efficacy with YCJ-01 by changes in the number of epileptic seizures in patients with refractory epilepsy secondary to Tuberous Sclerosis Complex. 2.
- Trial name
- Spectrum (NCT07403266)
- Testing
- YCJ-01 Full Spectrum cannbis Extract
- Where
- Spain
- Volunteers
- 84 people
- Sponsor
- Oils4Cure
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
Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child
Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
This is a long-term follow up study evaluating the safety of BPX-501 T cells (rivogenlecleucel) and infused in pediatric patients previously enrolled on the BP-004 study.
- Conditions
- Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child, Lymphoma, Non-Hodgkin, Myelodysplastic Syndromes
- Trial name
- NCT03733249
- Testing
- Rimiducid, rivogenlecleucel
- Where
- Italy
- Volunteers
- 187 people
- Sponsor
- Bellicum 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
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
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Solid Tumors, CNS Tumors
Study Of Entrectinib (Rxdx-101) in Children and Adolescents With Locally Advanced Or Metastatic Solid Or Primary CNS Tumors And/Or Who Have No Satisfactory Treatment Options
This is an open-label, Phase 1/2 multicenter dose escalation study in pediatric patients with relapsed or refractory extracranial solid tumors (Phase 1), with additional expansion cohorts (Phase 2) in patients with primary brain…
- Trial name
- STARTRK-NG (NCT02650401)
- Testing
- Entrectinib
- Where
- 26 sites in United States, Canada and 7 more
- Volunteers
- 69 people
- Sponsor
- Hoffmann-La Roche
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
Tuberous Sclerosis Complex
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment
The purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be…
- Trial name
- NCT02962414
- Testing
- everolimus
- Where
- 67 sites in United States, Australia and 16 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis Complex, Focal Cortical Dysplasia
Astroscape: A Study of Radiprodil on Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms in Patients With TSC or FCD Type II
Study RAD-GRIN-201 is a phase 1B/2A trial to assess safety, tolerability, pharmacokinetics (PK), and potential efficacy of radiprodil in participants with Tuberous Sclerosis Complex (TSC) or Focal Cortical Dysplasia (FCD) type…
- Trial name
- NCT06392009
- Testing
- Radiprodil
- Where
- 18 sites in Australia, Belgium and 6 more
- Volunteers
- 30 people
- Sponsor
- GRIN Therapeutics, Inc.
Neuroblastoma, Ewing's Sarcoma
Use of Racotumomab in Patients With Pediatric Tumors Expressing N-glycolylated Gangliosides
This study will be carried out in children with diagnosis of cancer with tumors known to express N-glycolylated gangliosides. The disease must be resistant to conventional therapy.
- Conditions
- Neuroblastoma, Ewing's Sarcoma, Wilm's Tumor, Retinoblastoma
- Trial name
- NCT01598454
- Testing
- racotumomab
- Where
- Argentina
- Volunteers
- 15 people
- Sponsor
- Laboratorio Elea Phoenix S.A.
Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child
Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant
This study will evaluate pediatric patients with malignant or non-malignant blood cell disorders who are having a blood stem cell transplant depleted of T cell receptor (TCR) alfa and beta cells that comes from a partially…
- Conditions
- Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child, Lymphoma, Non-Hodgkin, Myelodysplastic Syndromes
- Trial name
- NCT03301168
- Testing
- BPX-501 T cells, Rimiducid
- Where
- 10 sites in United States
- Volunteers
- 120 people
- Sponsor
- Bellicum Pharmaceuticals
Cryopyrin-Associated Periodic Syndromes
Kineret CAPS Post Authorisation Study
A non-interventional, post authorization safety study to evaluate the safety of Kineret in the treatment of Cryopyrin Associated Periodic Syndromes (CAPS) in routine clinical care with regard to serious infections, malignancies…
- Trial name
- NCT02326376
- Testing
- anakinra (Kineret)
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 12 people
- Sponsor
- Swedish Orphan Biovitrum
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
Neurofibromatosis Type 1
PASS of Paediatric Patients Initiating Selumetinib
Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant genetic disorder that is caused by germline mutations in the NF1 tumour suppressor gene, which encodes the tumour suppressor protein neurofibromin 1.
- Trial name
- NCT05388370
- Where
- 46 sites in Austria, France and 8 more
- Volunteers
- 124 people
- Sponsor
- AstraZeneca
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
Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer
A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups
PanFAM-1 is a clinical study for early detection of pancreatic cancer in high-risk groups. The goals of the study are to assess the performance and diagnostic accuracy of the IMMray™ PanCan-d test compared to standard-of-care…
- Conditions
- Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer, FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome
- Trial name
- NCT03693378
- Where
- 21 sites in United States, Canada and 3 more
- Volunteers
- 1,349 people, healthy volunteers welcome
- Sponsor
- Immunovia, Inc.
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
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