Neurofibromatosis Clinical Trials
A listing of Neurofibromatosis medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.
Found 57 clinical trials
Multi-Institutional Registry for Malignant Peripheral Nerve Sheath Tumors
First, the investigators plan to use a retrospective analysis to determine the clinical landscape of neurofibromatosis (NF)1-associated malignant peripheral nerve sheath tumor (MPNST) and
- 5 views
- 26 May, 2022
- 8 locations
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. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function …
- 229 views
- 08 Aug, 2021
- 1 location
Familial Investigations of Childhood Cancer Predisposition (SJFAMILY)
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic …
- 223 views
- 25 May, 2022
- 1 location
GROWing Up With Rare GENEtic Syndromes
GROWing Up With Rare GENEtic Syndromes: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive …
- 196 views
- 09 Feb, 2021
- 1 location
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute …
- 613 views
- 03 Oct, 2021
- 3 locations
Natural History and Biospecimen Acquisition Study for Children and Adults With Rare Solid Tumors
Background Approximately 150 cases of cancer per one million per year are considered rare cancers. While all tumors originate from genetic changes, a small percentage of these tumors are familial. Researchers want to study these changes in biological samples from people with rare tumors in order to learn more about …
- 36 views
- 21 Oct, 2022
- 4 locations
Natural History Study of Cutaneous Neurofibromas in People With Neurofibromatosis Type 1 (cNF Natural Hx)
People diagnosed with NF1 may develop cutaneous neurofibromas, also known as cNFs. These benign tumors can cause discomfort and affect a person's quality of life. Researchers at Johns Hopkins
- 0 views
- 22 Oct, 2022
- 1 location
Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1
The purpose of this study is to identify tumor biomarkers in individuals with Neurofibromatosis type 1 (NF1). Biomarkers are signals that the investigator can measure that tell us about a
- 0 views
- 15 Mar, 2022
- 1 location
A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).
Objective With this prospective natural history study on neurofibromatosis type 2 (NF2) study, we hope to understand the factors leading to tumor progression and neurological disease
- 18 views
- 23 Oct, 2022
- 1 location
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
- 0 views
- 07 Oct, 2022
- 1 location