We are always collaborating and supporting projects internal and external to the organization. These supported projects span many topics. Some of these include research into treatments for idiopathic intracranial hypertension, developing clinical tools to better define Chiari, and improving transition of care from a pediatric to an adult doctor.
In addition to raising awareness and supporting local families impacted, recently we began raising money for another important project! Our friends at the lab of Dr. Francis Loth will be beginning groundbreaking research that aims to improve the lives of countless individuals suffering from Chiari malformation (CM).
The team at Northeastern University has plans to develop innovative MR imaging protocols and engineering analyses. Chiari patients will be able to volunteer and receive very detailed MRIs. We hope these will help us better understand and treat these disorders. Patients and their families will be invited to get a look “behind the bench” at an annual event, similar to an “Open House”. Families will be invited to meet researchers and other patients and family members to foster a community of support. The project is still in its earliest planning stages, but we expect more information to come soon. Bobby Jones CSF is thrilled to be a part of this project! I’m excited to be attending this event in person and would love for you to join us and be a part of continuing our vital research and support efforts, bringing hope to families affected!
We are also working to better standardize the Ehlers-Danlos syndrome and instability research. Right now, doctors don’t necessarily agree on what “cranio-cervical instability” actually is… Our medical board is leading efforts to define and standardize cranio-cervical instability in pediatric and adult patients. From there, we have projects in the pipeline to study natural history, treatment options and longer-term outcomes. We are poised to make huge breakthroughs in the next decade. Check out the poster that lists the various projects we’re working on here at the walk and contact the organization anytime with questions.
There are always studies ongoing concerning Chiari, syringomyelia and related disorders— some funded by BJCSF, some not. We do our best to keep you informed of any research that we are told about.
The AANS/CNS Joint Section on Pediatric Neurosurgery is awarded at the group’s annual conference to the best abstract or presentation related to Chiari malformation, syringomyelia or related disorders. This award is presented annually to a single researcher whose work, according to his or her peers, exemplifies excellence in the study and understanding of these disorders. The goal of this ongoing project is to promote interest in the study of Chiari and syringomyelia amongst younger neurosurgeons and researchers-in-training. Involving new researchers leads to a higher likelihood of future breakthroughs!
Previous Awardees:
The goal of neurosurgical guidelines is to provide guidance on what should be the standard-of-care in Chiari neurosurgical care, based on what is already known in the medical literature. For instance, in terms of diagnosis, the guidelines indicate what radiological images and measurements are most helpful… as well as identifying other clinical tests that may be helpful in appropriate diagnosis— such as sleep studies. The results of this work and the guidelines themselves were published in the journal Neurosurgery on imaging, symptoms and surgical interventions.
Craniocervical instability (CCI) is a contentious issue in medicine. There are no well-established criteria to diagnose the pathology. Instead, it is a diagnosis made by clinicians based largely on opinion, since the medical evidence does not have high-quality data. We have begun a Delphi-process to come to consensus on diagnosis and treatment. We are including clinicians on all sides of this controversy as to what “qualifies” as CCI. The goal is to identify objective radiographic and clinical signs that may better indicate surgery. The initial group gathered to discuss this pointed out that pediatric and adult patients are very different, so we hope to come to consensus in both pediatric and adult specialties.
The next steps, then, will be to take those consensus definitions and study current and potential treatment options available. The overall goal is to improve the quality-of-life for families around the world who currently have no clinical guidance for their treatment.
The first set of Common Data Elements (CDEs) for CM1 was developed in partnership with the Bobby Jones Chiari & Syringomyelia Foundation in 2016. The purpose of the Chiari I Malformation Common Data Elements (CDEs) is to facilitate research by providing a standard definition for common, previously used research variables so that they may be used in a more uniform fashion across the available literature. The listing of Common Data Element and Instrument definitions and tools is not intended to limit the consideration of any other variables in the investigation of Chiari I Malformation, but merely to standardize the use of frequently observed variables, where possible. It is recognized, for example, that other metrics, especially those involving the characterization of soft tissue and CSF volume and shape, or those involving dynamic physiological measures, are likely important to future Chiari investigation and perhaps, ultimately, its evaluation and treatment. These metrics have not yet been included in this iteration of the Chiari I Malformation CDEs because there are no current standardization methods available. It is our hope that these elements may be part of future versions of the CDEs to further advance the literature. Finally, we should be mindful that it is not the purpose of these CDEs to define Chiari I Malformation itself or to guide surgical treatment; these CDEs are a tool for research purposes. Annually, these CDEs are updated and reviewed. In 2022, a package was submitted for inclusion of tethered cord syndrome CDEs as a co-morbid disorder.
Learn more about why we need patients involved in CDEs and larger database research here.
Previously
Mapping Perivascular Spaces Toward Improved CSF Flow in the Spinal Cord
Dr. Malisa Sarntinoranont | University of Florida
Automated Posterior Cranial Fossa Volumetry by MRI: Applications to Chiari Malformation Type I
Ahmet M. Bagci, PhD | University of Miami
Development of a Numerical Model of Spinal CSF Dynamics
Christopher D. Bertram, PhD | University of Bristol
Genetic Dissection of Chiari Type I Malformation
Christina A. Markunas, PhD-Candidate (Christina has since finished her PhD) | Duke University
We will continue to update this section of the website. A lot is happening in the study of Chiari, syringomyelia and related disorders.
There are new studies being developed at Wash U each year, including genetics projects for patients who have more than one family member affected. Learn more about additional studies on their website: chiari.wustl.edu/
SEA Board member, Dr. Chip Norris and post-doctoral fellow, Dr. Cortney Gensemer, continue to innovate the study of Ehlers-Danlos syndrome at MUSC! We recently partnered with the Norris Lab to host a patient conference and advocacy day in Washington, DC.
Watch some of the videos from that conference here and learn more about the lab and any ongoing projects on their webiste: www.thenorrislab.com
Bobby Jones CSF SEA Board member Dr. David Limbrick spearheaded a $2.8 million dollar multi-center randomized control trial (RCT). Funded by PCORI, this study looked into the effectiveness of two different techniques for Chiari decompression surgery: posterior decompression with duraplasty, and without! The results of this study are being published soon!
Research into Chiari malformation, syringoymelia and related disorders has been overlooked for some time by most investigators other than those who already have a large interest in the subject. Within the past few years, however, Chiari is becoming more and more widely published in the literature and more researchers are having valuable discussions on these disorders. BJCSF is working to ensure that progress continues to move forward by working on the Common Data Elements to improve research methods, world-wide.
BJCSF is also committed to improving the way researchers and physicians talk to each other. We sponsor several meetings throughout the year to make sure that the conversations that clinicians and researchers have are focused on the whole patient and not their disorders, alone. It’s important to educate doctors and experts from many different areas of medicine and science.
Watch to learn a bit more about why:
Duke Center for Human Genetics Study
The Duke Center for Human Genetics recruited families who had 2 or more family members with Chiari type I malformations (CMI), with or without syringomyelia. These family members must have been related to each other by blood, and both must have been willing to participate. The work was centered on determining whether or not there was a genetic cause to the development of CMI. Hopefully in the future this will lead to better ways to diagnose and treat CMI.
Participation in the study involved:
For more information, please contact the study coordinator at 1-877-825-1694 or chiari@chg.duhs.duke.edu.
