Clinical trials: Hereditary Cancer
- Condition Hereditary Cancer
- 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
Microcystic Lymphatic Malformation
SELVA: A Phase 3 Study Evaluating QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic Malformations
SELVA: A Multicenter, Phase 3 Baseline-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic Malformations The main purpose of this study is to assess…
- Trial name
- SELVA (NCT06239480)
- Testing
- QTORIN 3.9% Rapamycin Anhydrous Gel
- Where
- 15 sites in United States
- Volunteers
- 51 people
- Sponsor
- Palvella Therapeutics, Inc.
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.
Hemophilia A
Study Evaluating ReFacto AF in Severe Hemophilia A
To characterize the safety and efficacy of ReFacto AF in treating acute bleeding episodes during prophylaxis treatment, including neoantigenicity.
- Trial name
- NCT00037544
- Testing
- ReFacto AF
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
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
Epidermolysis Bullosa, Dystrophic, Epidermolysis Bullosa, Junctional
A Study to Assess the Incidence of Skin Cancers in Patients With Epidermolysis Bullosa Receiving Filsuvez
In patients with epidermolysis bullosa (EB), collagen does not form properly, so their skin is very fragile and blisters easily. Such patients are also at greatly increased risk of developing skin cancers.
- Trial name
- FOSteR (NCT06423573)
- Testing
- Filsuvez
- Where
- 12 sites in United States, France and 4 more
- Volunteers
- 170 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Iron Overload, Hemoglobinopathies
Comparing CGM and OGTT in Relation to Iron Overload Detected by Pancreas T2* MRI in High-Risk Hematology Group
A prospective, observational, comparative study with no intervention.The objective of the study to compare the efficiency of detecting glycemic abnormalities using Continuous Glucose Monitoring (CGMs) versus Oral Glucose…
- Conditions
- Iron Overload, Hemoglobinopathies, Lymphoma, Acute Lymphoblastic Leukemia
- Trial name
- CGMs (NCT03141398)
- Testing
- Continuous Glucose Monitoring (CGM), Oral Glucose Tolerance Test (OGTT), T2* MRI of the Pancreas
- Sponsor
- Hamad Medical Corporation
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
Prostatic Neoplasms
Prevalence of HRR-related Genes Mutations and Prognosis in Metastatic Castration Resistant Prostate Cancer (mCRPC) Patients in Real World Setting
The purpose of this study is to investigate the prevalence of tissue homologous recombination repair (HRR)-related gene mutations (positive/negative/Variant of uncertain significance (VUS)), clinical outcome such as…
- Trial name
- ZENSHIN (NCT04425200)
- Where
- 26 sites in Japan
- Volunteers
- 205 people
- Sponsor
- AstraZeneca
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.