Clinical trials: Hereditary Cancer Syndromes
Neurofibromatosis Type 1
A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
The specific aim of this study is to determine whether Lovastatin ™ significantly improves visual spatial learning and/or sustained attention in children with NF1.
- Trial name
- STARS (NCT00853580)
- Testing
- Lovastatin ™
- Where
- 12 sites in United States, Australia
- Volunteers
- 146 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Neurofibromatosis 1, Social Skills
Pilot Randomized Control Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1
This is a pilot randomized control trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
- Trial name
- NCT04860362
- Testing
- PEERS
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Milwaukee
Huntington Disease, Hereditary Breast and Ovarian Cancer
Genetic Risk: Whether, When, and How to Tell Adolescents
This study is being conducted to learn more about family communication of genetic risk information. Semi-structured interviews lasting up to one hour will be conducted with three populations: parent/child pairs at risk for…
- Conditions
- Huntington Disease, Hereditary Breast and Ovarian Cancer, Hereditary Cancer, Hereditary Non-polyposis Colon Cancer
- Trial name
- NCT03421327
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Multiple Osteochondromas
Registry of Multiple Osteochondromas
REM is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- REM (NCT04133285)
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Luca Sangiorgi
Polycystic Ovary Syndrome
Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS
Cardiovascular risk factors cluster in hyperandrogenic women - including those presenting with the polycystic ovary syndrome - in association with insulin resistance, obesity, and other metabolic disorders.
- Trial name
- NCT00428311
- Testing
- Metformin, Ethynyl-estradiol plus cyproterone acetate
- Where
- Spain
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Hospital Universitario Ramon y Cajal
Kidney Cancer
Studying Genes Using Cord Blood and Placenta Samples From Relatively Healthy Newborns and Samples From Younger Patients With Wilms Tumor
RATIONALE: Studying samples of blood and tissue from newborns and from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01576211
- Testing
- DNA methylation analysis, RNA analysis, allele-specific oligonucleotide real-time quantitative polymerase chain reaction
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Children's Oncology Group
Puberty, Hyperandrogenism
Acute Progesterone Suppression of Wake vs. Sleep Luteinizing Hormone Pulse Frequency in Pubertal Girls With and Without Hyperandrogenism
The purpose of this study is two-fold. (1) We will determine if in mid- to late pubertal girls without hyperandrogenism (HA), progesterone (P4) acutely reduces waking luteinizing hormone (LH) frequency to a greater extent than…
- Trial name
- CRM003 (NCT00929006)
- Testing
- Micronized progesterone suspension
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Neurofibromatosis Type 1
Neurofibromatosis Type 1 Patient Registry
The Neurofibromatosis Type 1 (NF1) Patient Registry Initiative (NPRI) is a web-based registry that asks participants to fill out a 30-minute online questionnaire to collect information about the spectrum of medical and social…
- Trial name
- NPRI (NCT01410006)
- Where
- United States
- Volunteers
- 2,391 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Breast Cancer, Hereditary Breast and Ovarian Cancer
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
PROGECT is a registry for patients with Triple Negative breast cancer (TNBC) or patients who have an identified germline mutations (such as a mutation on the BRCA1 or BRCA2 genes).
- Trial name
- PROGECT (NCT02302742)
- Where
- 11 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Lymphoma, Leukemia
Transfer of Effector Memory T Cells (Tem) Following Allogeneic Stem Cell Transplantation
RATIONALE: Following stem cell transplantation, a major risk is graft-versus-host disease (GVHD). This occurs when donor immune cells that have been infused recognise the host's cells as 'foreign' and attack these cells.
- Conditions
- Lymphoma, Leukemia, Myeloma, Myelodysplastic Syndromes
- Trial name
- ToTem (NCT03836690)
- Testing
- CD62L- Tem
- Where
- United Kingdom
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University College, London
Neurofibromatosis 1
Antioxidant Therapy With N-acetylcysteine for Children With Neurofibromatosis Type 1
Children with neurofibromatosis type 1 (NF1) commonly suffer from the effects of cognitive, behavioral, and motor impairments. At present, there is no specific treatment for this NF1 complication.
- Trial name
- DoDNAC (NCT04481048)
- Testing
- N-Acetyl cysteine
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Neurofibromatosis 1, Social Skills
Open Trial of Telehealth Group for Improving Peer Relationships (PEERS) in NF1
This is an open trial of the UCLA PEERS protocol delivered via Telehealth with teens with neurofibromatosis type 1 whose parents report that they have difficulty making and keeping friends.
- Trial name
- NCT04856514
- Testing
- PEERS
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Milwaukee
Multiple Endocrine Neoplasia
Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in MEN1 Patients
Objectives: The aim of the present study is to assess the significance of metabolomics and genetics in diagnosing and survival evaluation for pNET in the periodic follow-up of MEN1 patients.
- Trial name
- NCT03048266
- Where
- United States
- Volunteers
- 629 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Neurofibromatosis 1, Plexiform Neurofibromas
Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)
Background: People with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs) can have pain that affects their daily lives.
- Trial name
- NCT02544022
- Where
- 6 sites in United States
- Volunteers
- 476 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome
Pediatric Reporting of Adult-Onset Genomic Results
The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among MyCode adolescent participants and their parents, and health behaviors of children who received…
- Conditions
- Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
- Trial name
- NCT03832985
- Testing
- Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result, Control - Negative Result
- Where
- United States
- Volunteers
- 162 people, healthy volunteers welcome
- Sponsor
- Geisinger Clinic
Chronic Myeloproliferative Disorders, Fanconi Anemia
Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of…
- Conditions
- Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00900055
- Testing
- microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Neurofibromatosis 1
Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial
Background: People with Neurofibromatosis type 1 (NF1) have an increased risk of developing plexiform neurofibromas (PNs). PNs are tumors that form in the tissue. They can form anywhere in the body.
- Trial name
- NCT04879160
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)