Clinical trials: Neoplastic Syndromes, Hereditary
Hereditary Cancer Syndromes
Trial of Combined Obstetric Carrier Screening and Hereditary Cancer Screening
The investigators hypothesize that pregnancy and preconception care may be a feasible and effective time to offer inherited cancer risk screening.
- Trial name
- FOCUS (NCT07052266)
- Testing
- MyRisk Hereditary Cancer Test
- Where
- 5 sites in United States
- Volunteers
- 550 people
- Sponsor
- Weill Medical College of Cornell University
Neurofibromatosis and Malignant Peripheral Nerve Sheath Tumors
A Clinical Trial to Evaluate the Safety and Efficacy of AL2846 Capsules in Chinese Patients With Type I Neurofibromatosis
AL2846 is a multi-target receptor tyrosine kinase inhibitor. The purpose of this study is to evaluate the safety and efficacy of AL2846 capsules in Chinese patients with type I neurofibromatosis (NF1) (neurofibromas and malignant…
- Trial name
- NCT05011019
- Testing
- AL2846 capsules
- Where
- China
- Volunteers
- 22 people
- Sponsor
- Chia Tai Tianqing Pharmaceutical Group Co., Ltd.
Neurofibromatosis 1
Trial to Evaluate the Safety of Lovastatin in Individuals With Neurofibromatosis Type I (NF1)
Neurofibromatosis type I (NF1) is a genetic disorder that affects approximately 1 in 3500 individuals. Half of people with NF1 inherit the condition from a parent, and half have a new occurrence of the condition.
- Trial name
- NF1 (NCT00352599)
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- University of California, Los Angeles
Tuberous Sclerosis Complex
Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex (TSC) is a multi-system disease, usually presenting with seizures, mental retardation and autism, and exhibiting a high variability in clinical findings both among and within families.
- Trial name
- TSC (NCT01289912)
- Testing
- RAD001
- Where
- 2 sites in United States
- Volunteers
- 52 people
- Sponsor
- Mustafa Sahin
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Hodgkin Lymphoma
Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well tazemetostat works in treating patients with brain tumors, solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that have come back (relapsed) or do not respond to…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Hodgkin Lymphoma, Ann Arbor Stage III Non-Hodgkin Lymphoma, Ann Arbor Stage IV Hodgkin Lymphoma
- Trial name
- NCT03213665
- Testing
- Tazemetostat
- Where
- 117 sites in United States, Puerto Rico
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Neurofibromatosis Type 1
Reading Disability in Children With NF1
A national, multicenter, randomized, transverse clinical trial, estimating the existence of phonological deficits in children with NF1 children compared with control children without NF1 with the same reading level.
- Trial name
- NCT02397967
- Testing
- Neuropsychological assessments
- Where
- 6 sites in France
- Volunteers
- 181 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Ulcerative Colitis (Disorder), Familial Adenomatous Polyposis (FAP)
LATA-IBD TRIAL a Controlled Feasibility Study for the Introduction of Transanal Minimally Invasive IPAA-Surgery. Evaluation of Operative Results and Bowel Function After Introducing Transanal IPAA-surgery to Replace Conventional Laparoscopic IPAA-surgery.
This study compares the operative and functional outcomes of adding a transanal pathway to laparoscopic pelvic pouch surgery. The transanal pathway enables the surgeon to have better control when dividing the rectum and it may…
- Trial name
- LATA-IBD (NCT07278687)
- Where
- Sweden
- Volunteers
- 39 people
- Sponsor
- Sahlgrenska University Hospital
Neurofibromatosis Type 1
Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation
Frequency of constitutional mismatch-repair deficiency among suspected neurofibromatosis type 1 patients without a NF1 mutation Constitutional mismatch repair deficiency (CMMRD) is a rare inherited condition.
- Trial name
- CMMRD in NF1 (NCT03757247)
- Volunteers
- 670 people
- Sponsor
- Medical University Innsbruck
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to…
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
- Trial name
- NCT06080165
- Testing
- Sirolimus
- Where
- 3 sites in United States
- Sponsor
- Stanford University
Osteosarcoma, Ewing Sarcoma
Neoadjuvant Dual Checkpoint Inhibition and Cryoablation in Relapsed/Refractory Pediatric Solid Tumors
The is a phase II, single arm, open-label, multi-site trial studying the combination of cryoablation therapy and dual checkpoint inhibition with nivolumab (anti-PD-1) and ipilimumab (anti-CTLA-4) given at the recommended phase 2…
- Conditions
- Osteosarcoma, Ewing Sarcoma, Rhabdomyosarcoma, Relapsed Pediatric Solid Tumor
- Trial name
- NCT05302921
- Testing
- Cryoablation Therapy, Nivolumab, Ipilimumab
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's National Research Institute
Psychological Distress, Genetic Testing
Psychological Support and Psycho-Emotional Trajectories in Cancer Genetics.
Undergoing a cancer genetic testing pathway and receiving results regarding a personal or familial cancer predisposition can generate substantial, multifaceted psycho-emotional distress for patients.
- Conditions
- Psychological Distress, Genetic Testing, Hereditary Neoplastic Syndromes, Neoplasms
- Trial name
- PsyOncoGen (NCT07695506)
- Testing
- Patients undergoing their first cancer genetic testing consultation who choose to utilise the clinical psychological support offered by the unit, Patients undergoing their first cancer genetic testing consultation who choose to follow the care pathway without utilising the systematically offered clinical psychological support.
- Volunteers
- 220 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Neoplastic Syndrome, Non-melanomatous Skin Cancer
Topical Sirolimus in Patients With Basal Cell Nevus Syndrome and in Healthy Participants
RATIONALE: Studying samples of blood and tissue from patients with basal cell nevus syndrome and from healthy participants in the laboratory may help doctors learn more about changes that may occur in DNA and identify biomarkers…
- Trial name
- NCT00433485
- Testing
- sirolimus, comparative genomic hybridization, gene expression analysis
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Yale University
Lynch Syndrome, Neoplasms
The GEOLynch Cohort Study
The GEOLynch cohort study has been established to investigate the influence of genetic, environmental and other factors on tumour risk in persons with Lynch syndrome.
- Conditions
- Lynch Syndrome, Neoplasms, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Neoplasms
- Trial name
- GEOLynch (NCT03303833)
- Testing
- No intervention, observational study.
- Where
- Netherlands
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Wageningen University
Hereditary Breast and Ovarian Cancer
Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment
Participating in genetic cancer risk assessments (GCRA) for hereditary breast and ovarian cancer can inform treatment and risk management decisions and improve breast cancer outcomes.
- Trial name
- NCT03511690
- Testing
- BRCA-Gist
- Where
- 4 sites in United States
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- Georgetown University
Kidney Cancer
Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Radiation therapy uses high-energy x-rays to damage tumor cells.
- Trial name
- NCT00002610
- Testing
- dactinomycin, filgrastim, carboplatin
- Where
- 235 sites in United States, Australia and 5 more
- Volunteers
- 203 people
- Sponsor
- Children's Oncology Group
Multiple Osteochondroma, Osteogenesis Imperfecta
Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study
In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression.
- Conditions
- Multiple Osteochondroma, Osteogenesis Imperfecta, Ollier Disease, Maffucci Syndrome
- Trial name
- RELOAD (NCT04844697)
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- Istituto Ortopedico Rizzoli
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
Familial Breast Cancer, Familial Colorectal Cancer
Direct Information to At-risk Relatives
This study evaluates if uptake of genetic counselling in high-risk families is increased when patients at cancer genetics clinics are being offered healthcare-assisted disclosure to at-risk relatives compared to current standard…
- Conditions
- Familial Breast Cancer, Familial Colorectal Cancer, Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Breast Cancer
- Trial name
- DIRECT (NCT04197856)
- Testing
- Standard care encouraging family-mediated disclosure of hereditary cancer risk, Offer of health-care assisted disclosure by sending direct letters to at-risk relatives
- Where
- Sweden
- Volunteers
- 490 people
- Sponsor
- Umeå University
Cowden's Disease, Hamartoma Syndrome, Multiple
Sirolimus to Treat Cowden Syndrome and Other PTEN Hamartomatous Tumor Syndromes
Background: People with phosphatase and tensin homolog deleted on chromosome 10 (PTEN) hamartomatous tumor syndromes (PHTS) have a mutation in one of their genes called PTEN that can lead to benign tumors called hamartomas…
- Trial name
- NCT00971789
- Testing
- fludeoxyglucose F 18, sirolimus, Clinical Videography
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- National Cancer Institute (NCI)
Neurofibromatosis 2
PTC299 for Treatment of Neurofibromatosis Type 2
Formation of new blood vessels (angiogenesis) is important for tumor growth in neurofibromatosis type 2 (NF2). It is known that tumors make a protein called vascular endothelial growth factor (VEGF) and there are higher levels of…
- Trial name
- NCT00911248
- Testing
- PTC299
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
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