Research & Clinical Opportunities
Article Published Based on Natural History Survey
The Orphanet Journal of Rare Diseases has published an article “The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects,” based on the work of Dr. Nagy, her team at Mass General, and those within the TBL1XR1 disease community who participated in the natural history survey on TBL1XR1.
TBL1XR1 Patient/Family Forum Event at Mass General Hospital May 8-9, 2024
Fly Little Bird Foundation and Massachusetts General Hospital are holding the first TBL1XR1 Patient/Family Forum. The first day (May 8th) would be for children/families to see pediatric neurologist Dr. Amanda Nagy and other specialists (physical medicine and potentially other fields of interest as well), and the second day (May 9th) would be for families and children to meet and listen to speakers on topics of interest (what we know about the gene, disease, status of research, etc.). We will also have a virtual option for those who cannot attend in person. Please reach out to flylittlebirdfoundation@gmail.com for more details!
TBL1XR1 Center of Excellence at Mass General
The Fly Little Bird Foundation has funded a TBL1XR1 Center of Excellence at Massachusetts General Hospital in the Department of Neurology. This includes access in the clinic of Neurogenetics Fellow Dr. Amanda Nagy, MD, who specializes in pediatric cases involving genetic neurological disorders. Dr. Nagy often sees children with rare and ultra-rare diseases in her clinic and, in fact, has already seen several children with TBL1XR1 gene variants, enabling her to offer a scientific presentation on this topic at two major pediatric genetic conferences already. With the considerable funding from the foundation, Dr. Nagy is now able to devote a significant portion of her clinical and research time to TBL1XR1 patients to specialize further in understanding this disorder.
The foundation is excited to have TBL1XR1 studied by Dr. Nagy and her colleagues because while she develops a deeper picture of this disorder, she can also begin to work with her colleagues to think about treatments.
Dr. Nagy’s clinic will work with each family’s insurance to schedule and approve the visits. Dr. Nagy has a terrific clinical research coordinator (funded by Fly Little Bird Foundation to help with this project) who you can contact and indicate that you would like to schedule an appointment in Dr. Nagy’s clinic. This coordinator’s name is Lizbeth De La Rosa Abreu and she can be reached at ldelarosaabreu@mgh.harvard.edu or by phone at (939) 640-3543. She will help you register at the hospital and then she can help determine if your insurance can cover this visit.
Partnership with Invitae Ciitizen Rare Patient Network
Fly Little Bird Foundation has partnered with Invitae’s Ciitizen Rare Patient Network to build a strong natural history study from patients’ medical records.
How this works:
· No clinic visits required
· Clinical data will be collected from patient’s health records, organized and summarized, free of charge
· You retain full control and access to patient’s health records via an easy-to-use digital platform
Reasons to join:
· DIGITALLY ACCESIBLE ONE-STOP-SHOP FOR MEDICAL RECORDS: Invitae tracks down all of your child’s existing health records and makes them digitally accessible to you in a personal portal with an easy-to-use dashboard. Access original notes and reports, download and search at any time.
· MEDICAL HISTORY SUMMARY: Invitae creates a comprehensive summary of your child’s medical history (with dates of diagnoses) that you can share with providers, specialists, family, etc. Use one link to collaborate with your medical team and coordinate with caregivers.
· ACCELERATE RESEARCH: Choose to share de-identified data (i.e., no personally identifying information) with researchers to champion future rare disease studies. Researchers and pharmaceutical companies have used rare disease data from Invitae’s Ciitizen Rare Patient Network to submit filings to the FDA in support of rare disease treatments.
Because of legal limitations and translation issues, right now this is available for US patients only. Through the foundation’s partnership with Invitae, there is $0 charge for this service, and it’s a GREAT opportunity for the TBL1XR1 community!
Visit https://www.ciitizen.com/rarenetwork/FlyLittleBird to sign up (note: when you get to the point where it asks you to provide primary diagnosis from the drop-down menu, choose TBL1XR1-related disorder)
Apply for a Grant
Fly Little Bird Foundation seeks to fund research that has the potential to accomplish one or more of the following:
Better characterize patient populations with respect to TBL1XR1 gene variants;
Address an important or novel research question related to the TBL1XR1 gene and/or TBL1XR1 gene variants; or
Identify and develop therapies or treatments that could significantly improve the quality of life for individuals with TBL1XR1 gene variants.
Proposals must have specific relevance to the TBL1XR1 gene, and show promise for contributing to scientific advancement in the field of study.
Grant proposals should include a specific budget and a brief, bullet point timeline. Proposals are accepted on a rolling basis. Please submit proposals to flylittlebirdfoundation@gmail.com and reach out with any questions.