Rare Disease Day Announcement Brings Attention to Genetic Disorder that Affects 1 in 25,000 Births
The Children’s Tumor Foundation and NF2 BioSolutions have announced a joint initiative to advance patient-focused research efforts for the neurofibromatosis type-2 (NF2) community. The collaboration, announced in recognition of Rare Disease Day, is focused on recruitment for two key resources: the NF Registry and the NF2 Biobank. The two organizations are working together to raise awareness of NF2 and to encourage robust participation in these two important tools, which will help increase scientific understanding of NF2, accelerate drug development of effective treatments, and lead to improved lives for NF2 patients.
Leading by collaborative example, the Children’s Tumor Foundation and NF2 BioSolutions are providing patients and caregivers safe, effective ways to share critical information about their condition with researchers, empowering them to impact the research focus of experts looking to better understand NF2. Though classified as a rare disease, and facing similar challenges of other rare conditions (lack of NF2 awareness in labs, pharma, and the general public), the extraordinary resilience of the NF2 patient community is generating much interest in the field, resulting in an increasing number of NF2 related preclinical studies, clinical trials, and gene therapy projects.
NF2 is a genetic disorder that causes tumors to grow on nerves in the body, as a result of pathogenic variants in a gene located on chromosome 22. It is characterized by benign tumors called vestibular schwannomas on the eighth cranial nerve, which is the nerve that carries sound and balance information to the brain. It affects 1 in 25,000 births worldwide across all populations, genders, and ethnicities equally. Symptoms of NF2 can include hearing loss, vision impairment, paralysis, facial weakness, seizures, and other problems due to brain and spine tumors in the central nervous system. Currently there is no cure for NF2, but promising advancements in NF2 research are underway.
The NF Registry, created and sponsored by the Children’s Tumor Foundation, is a patient-driven resource for accelerating research and finding treatments for all forms of NF. Its first principle is that patients are always in control of their own data and information. Patients who join the NF Registry increase understanding of NF2 by providing information about their medical condition, which is then anonymized. The information in the NF Registry is then used for only two purposes: 1) to provide patients with updates and clinical trials that match their needs, and 2) provide qualified researchers a summary of anonymous patient data about NF symptoms.
For researchers in particular, the NF Registry increases knowledge about all forms and manifestations of neurofibromatosis. This is done by studying the commonality of specific NF characteristics across all patient populations, and then connecting eligible NF patients to relevant research studies and clinical trials. The ultimate goal is that this exchange of information will improve research and more quickly lead to the improvement of the well-being of people with NF and their families.
For patients, the NF Registry means knowing about and connecting to relevant clinical trials and research studies, receiving updates to NF care recommendations, research announcements and important news, accessing surveys designed to get patient input on key NF challenges, and access to educational materials and specific resources helpful to NF2 patients. To join the registry, patients are encouraged to visit and learn more at nfregistry.org. Researchers conducting studies can likewise visit nfregistry.org to connect with the NF Registry team.
The NF2 Biobank is sponsored and supported by NF2 BioSolutions in collaboration with the Children’s Brain Tumor Network (CBTN) at the Children Hospital of Philadelphia; it collects tissue samples and tumors from NF2 patients. The inspiration for this initiative arose after meeting many researchers and lab directors, where it was discovered that access to NF2 tissues is a substantial roadblock to the advancement of research. It is very time-consuming and complicated for scientists and clinicians to get access to archived NF2 tumors, fresh tumors, or NF2 cell lines. We aim to accelerate research by eliminating this bottleneck and creating a more collaborative approach where ideas can be harnessed, expanded upon, and ultimately used to cure NF2.
NF2 BioSolutions chose CBTN as the site of the NF2 Biobank because the infrastructure and experienced team in place allows the rapid collection, storage and analysis of tissue samples. CBTN manages the consents, collection, shipping and storage of samples, while NF2 BioSolutions provides the network of NF2 surgeons and clinics that will allow patients to have their tumors surgically removed and sent to CBTN. These tissues are then made available to researchers throughout the world to study and test therapies for NF2.
If you have an upcoming tumor resection surgery soon or have had one in the past, you can have your tissue (tumors, skin, blood saliva) transferred to the NF2 Biobank and help end NF2. To get started, go to this page: https://nf2biosolutions.org/gene-therapy-and-nf2/open-access-nf2-tissues-cells
With the NF Registry and the NF2 Biobank, both patients and researchers can share and access NF2 information in a collaborative environment that increases patient power while at the same time increasing research knowledge of NF2. These efforts will expand promising efforts in the NF2 space and spark new innovations that will ultimately help all NF2 patients.
To learn more about the Children’s Tumor Foundation, please visit ctf.org
To learn more about NF2 Biosolutions, please visit nf2biosolutions.org