The Chiari Clinical Research Consortium was formed, formally, in 2022 to pursue a collaborative effort to study Chiari malformation, syringomyelia and related disorders. All deidentified study data are housed centrally to help researchers quickly access better infromation and find answers for struggling families even faster.
In order to ensure a large participation of diverse academic institutions and private practice clinics in the first study of the CCRC, BJCSF and the CCRC Executive Committee completed a full Request for Proposals process in 2022, receiving interest from clinics around the country and the world. Over 30 sites expressed interest in becoming a part of this multi-centered Chiari and syringomyelia research effort, particularly following the recent study closure of a similar Consortium effort.
This is a first-of-its-kind multi-institutional prospective cohort study with a primary aim to develop and internally validate a Chiari Surgical Success Scale (CSSS), a prognostic model capable of identifying the probability that certain clinical and radiologic variables will predict a favorable response to surgery, defined by two simple outcomes questions, in patients with Chiari malformation.
BJCSF is directly involved in the study, having voting rights on the Executive Committee and acting as the Data Monitor for the project. Learn more about this study in particular here.
Retrospective analysis of a single clinic's patients, assessing quality-of-life before and after craniocervical fusion surgery for craniocervical instability. BJCSF was tangentially involved, providing patient voice to the development of the study, offering insights as to the relevant variables and data points that would matter to patients and families in the long-term as well as providing comments on the Discussion of the study and Future Directions.
Dovetailing on the progress made from the retrospective study, we have partnered with epidemiologist, Dr. Jane Schubart, at Penn State University to design and implement a prospective study assessing the pre- and post-operative outcomes of craniocervical fusion surgery, particularly focusing on longer-term outcomes (at least 5 years), which were not addressed in the retrospective study as the follow-up was only 1 year. BJCSF was integral in writing the R01 NIH grant and is a listed partner on the grant proposal.
Craniocervical instability (CCI) is a medically contentious issue because there are currently no well-established criteria to diagnose the pathology, itself. Rather, it is a diagnosis made by clinicians based largely on Gestalt since the medical evidence is replete of high-quality data. We intend to fund a Delphi-process, involving clinicians on either side of the controversy of what "qualifies" as CCI in order to develop an expert consensus statement on objective radiographic and clinical signs that may better indicate surgery.
This is the only international registry of patients and caregivers impacted by Chiari malformation, syringomyelia and related disorders of its kind.
Patients and caregivers are able to provide subjective data via cross-sectional surveys as well as objective data by linking their patient portals and/or uploading genetics results from lab testing or commercially-available direct-to-consumer kits like 23&Me.
The registry is constantly evolving, opening and closing surveys and studies as needed. It is the goal to create a large repository of research-engaged patients and caregivers to continually advance research.
The so-called "5mm rule" in Chiari malformation treatment has come into question because it does not accurately predict symptom severity or treatment success.
In it, a patient is considered to have a Chiari malformation if their cerebellar tonsils are located at 5mm or greater below the foramen magnum, or the opening at the top of the spinal canal. The goal of this survey is to determine whether or not this rule has impacted the likelihood of accessing neurosurgical Chiari care over the years.
Part of a larger study to understand CCI and to feed into other projects studying CCI (above). The cranio-cervical junction is implicated in Chiari and related disorders such as cranio-cervical instability (CCI), which are relatively poorly understood. In order to facilitate better studies and future answers, this study seeks to better understand and identify the symptoms and concerns that patients with these disorders are experiencing right now.
The first survey for this study is meant to understand the burden of chronic head and neck pain in individuals living with cranio-cervical junction abnormalities (with or without CCI or EDS/hypermobility).
Individuals living with Chiari, syringomyelia and related chronic illnesses must have relatively regular meetings with their clinical teams, which can become burdensome financially and physically. Telehealth may offer a solution.
The international patient registry was utilized to perform a small study on postural orthostatic tachycardia syndrome (POTS) in Chiari patients. POTS is thought to be a co-morbidity of Chiari malformation.
This study performed in the patient registry hopes to better understand these connections and to identify strategies to reduce postural intolerance in these patients. This study was written up and has been submitted for publication.
As part of the 21st Century Cures Act, the FDA guidance now requires that drug and device companies must have a patient-focused drug development meeting as part of the FDA approval process. They have been both in-person and virtual and once completed, they are made publicly available. There are multiple reasons these meetings are inefficient and do not always represent the general population of impacted patients and families. To remedy this, we intend to use a modified Community Driven Innovation (CDI) methodology to gather patient and caregiver input on the symptoms and treatments currently available and how they might be improved.
Right now, Chiari, syringomyelia and related disorders do not have many treatment options. There are, basically, two choices: invasive neurosurgery or management of symptoms with medications and devices. Patients and families deserve new treatments and medical devices that can help manage these disorders more effectively. In order to reach that goal, we need to get more for-profit companies interested in researching new (and improving existing) treatment options. We will produce a written summary of patient and caregiver experiences that may be acceptable, by FDA standards (confirmed via a meeting), to serve as a patient-focused drug development requirement. This will help clinical trials move ahead more quickly. We are hopeful it will also lead to more patient-focused treatments and devices that are more effective and available faster!
Across multiple pediatric diseases, there are cross-disease issues with transition of care from pediatric to adult patient care (or across geographic transitions). This is particularly problematic in pediatric Chiari, syringomyelia, hydrocephalus, spina bifida and similar disease spaces. The goal of this project is to use Community Driven Innovation (CDI) methodology to identify the major gaps in transition of care based on input from patients, families, clinical practitioners (surgeons and other clinicians such as physical therapists, etc.), as well as researchers (and payers/policy writers?).
Top ranking gaps in care will be analyzed for variations based on respondent type (e.g., a parent may rank one issue higher than a neurosurgeon might) and a set of "top tasks" will be provided as a deliverable. These top tasks will be added to BJCSF, our nonprofit partners', and our clinical provider professional associations' advocacy points for the legislative year so we can speak together with one voice and improve transition of care in the United States.
The Think Tank meeting takes place every year and brings together the leading physicians, scientists and leaders in the Chiari, syringomyelia and related disorder community. New research findings and other practical presentations are provided to those in attendance and discussions are meant to improve the overall patient care for those impacted by Chiari, syringomyelia and related disorders.
The 2022 meeting took place in Philadelphia, PA in April.
This biennial conference brings together scientists, engineers, clinicians and mathematicians from around the world to discuss the underlying mechanisms that cause disorders of CSF flow, such as syringomyelia and Chiari malformation. Participants discuss their own research and bounce ideas off one another to better comprehend these poorly understood pathophysiology of CSF disorders. The meeting alternates between the United States and an international partner every four years.
The 2022 International Hydrodynamics Symposium took place in Gainesville, FL, USA in June.
Each year, the Bobby Jones Chiari & Syringomyelia Foundation (Bobby Jones CSF) hosts its annual Research Colloquium ahead of the annual meeting of the Congress of Neurological Surgeons. The purpose of the meeting is to disseminate recently published research about Chiari, syringomyelia and related disorders and to discuss potential clinical implications for pediatric and adult patients and the professionals who treat them.
The 2022 BJCSF Research Colloquium Meeting took place in San Francisco, CA in October. Each year, a collection of these presentations is collated into a book of proceedings for publishing.
There are currently no clinical guidelines available for Chiari malformation.
The goal of this project is to develop guidelines based on the existing medical literature to provide a better standard-of-care in Chiari diagnosis and treatment.
Tethered cord syndrome occurs in a small number of patients with Chiari malformation and/or syringomyelia. An even smaller number of these patients do not always have visible evidence of tethered cord on imaging, but sometimes do well with an untethering surgery.
The goal of this proposed study developed in part with the NIH would be to determine the effectiveness of cord untethering surgery in patients with, both, classic tethered cord and occult tethered cord syndrome.
PreCerv is a wholly owned subsidiary of Hemostemix (stem cell therapeutics company based in Calgary, Canada). PreCerv obtained from Hemostemix a global field of use license to NCP-01 and ACP-01, and its autologous stem cell technologies, to treat conditions of the central and peripheral nervous system, including but not limited to neuropathic pain syndromes; traumatic spinal cord injury, peripheral nerve injury; rare diseases including syringomyelia and age-related macular degeneration (ARMD).
NCP-01 are autologous neuronal cell precursors derived from the patient's blood. Clemson University is currently undertaking animal studies to prove safety and effectiveness of the NCP-01 cell line to prepare way for future clinical trials in patients with syringomyelia.
BJCSF presented some of its work alongside its partners at LunaDNA at the annual meeting of the American Public Health Association in Boston, Massachusetts (Nov 2022)
BJCSF presented some of its work at a research conference hosted by the Genetic Alliance (virtual).
Annually, BJCSF is invited to participate in the NINDS Nonprofit Forum and associated research meetings hosted by NINDS/NIH.
Our goal in participating is to ensure Chiari, syringomyelia and related disorders remain top-of-mind at federal agencies funding research in neurological and neurosurgical diseases!
Washington University at St. Louis is a leader in the field of Chiari and syringomyelia research, having been the site of the Park-Reeves study and the coordinating site of the $2.8M PCORI-funded posterior fossa trial on which BJCSF is the named patient partner. It is also the server upon which the CSSS database is built.
Additionally, the team here is engaged in multidisciplinary study of this area including an ongoing genetics study to understand why some members of families have a diagnosis of Chiari malformation, while others do not. WU is currently in the process of writing a programmatic NIH grant to study Chiari more generally and BJCSF will continue to be a valued patient partner.
Each year, BJCSF offers a substantial award to the presenter of the best abstract at the Joint Section on Pediatric Neurosurgery Section Meeting. Winners are selected for this award not by the BJCSF, but rather by the presenter's peers and future peers who comprise the Section's Executive Committee and its Designees.
In 2022, the winner was a Weill Cornell Medical Center medical student being trained under our very own Dr. Jeffrey Greenfield. Congratulations, Rachael Han!
BJCSF is proud to be asked to be 1 of 2 founding organizations of the AANS/CNS Joint Section on Pediatric Neurosurgery Nonprofit Advisory Council (NAC). While details are still being ironed out (Mission/Vision statements currently being drafted), BJCSF will participate in a minimum of 1 monthly meeting and 1 quarterly presentation to the Section.
The Section hopes to align its goals and initiatives with the clinical, research, education and advocacy missions of key nonprofit partners and allow more patient-focused groups the opportunity to engage in educational and research activities.
BJCSF hosts a minimum of (1) monthly virtual Ask the Expert session where clinicians, researchers and other experts present on a topic and answer questions sent in prior to and during the session. All virtual sessions are moderated and patients/caregivers can ask thoughtful questions to real experts in real time. Recorded videos are then made available on the organization's website and YouTube/Vimeo channels.
Since inception, the full Physician Lecture Series have been viewed over 3,000,000 times and includes educational lectures from the US and internationally, providing patients and families with a broader understanding and to keep them educated about the clinical applications of the most up-to-date research regarding these conditions.
Educational sessions are always being added to our Events calendar.
Since its inception, BJCSF has also hosted live, in-person lectures from clinicians, researchers and other experts in various locations around the country and the world. These are held in tandem with local support group meetings at various sites, including our SEA Board partner institutions. While these have slowed since the onset of COVID-19, we remain dedicated to providing this service locally, as well as virtually. In-person lectures are similarly recorded and made available on BJCSF's website and YouTube/Vimeo channels.
In-person lectures have been ongoing at our Charleston, SC Chapter location, thanks to SEAB Member Dr. Sunil Patel and our absolutely incredible volunteer, Nancy Feracco. Thank you, Nancy!
Since its inception, the full Physician Lecture Series have been viewed over 3,000,000 times and includes educational lectures from the US and internationally, providing patients and families with a broader understanding and to keep them educated about the clinical applications of the most up-to-date research regarding these conditions.
Educational sessions are always being added to our Events calendar.
BJCSF has previously hosted seminars and Grand Rounds at various medical institutions around the country.
By providing Continuing Medical Education (CME) credits, we can ensure a large number of engaged medical professionals and students who will come to learn the latest in diagnostics, treatment and patient care in Chiari, syringomyelia and related disorders.
The next Consider Chiari has been planned and will occur at Boston Children's Hospital in early 2023!
Beginning in 2022, and with the help of an outstanding teen, BJCSF was able to support a new awareness podcast "The Chiari Champion"! The podcast is available everywhere you listen to your favorite podcasts.
About the pod: Have you heard The Chiari Champion? This podcast is meant to raise awareness, seek solutions and share stories to grow, heal and bond together for people impacted by Chiari malformation, syringomyelia, Ehlers-Danlos syndrome and other related disorders. The first 12 episodes are up for you to binge right away. Join your host, Noah, and his special guests including experts, innovative thinkers and prominent voices in the field as they share their stories and find some humor and inspiration. Listen everywhere you find your favorite podcasts!
BJCSF hosted an Ask the Expert session with a member of our SEA Board to discuss the items presented at the 2022 AANS/CNS Joint Section on Pediatric Neurosurgery, to which our patients and families were welcome to join virtually.
It is unclear if this will continue in future years, as it will be dependent on funding, time resources, and relationships with clinicians.
Since COVID-19 halted in-person support meetings, these meetings were taken virtual and have since continued on a monthly basis.
Each month, we host a support group meeting for one of 4 different categories: 1) adult patients, 2) caregivers/parents, 3) young adults/teens, and– though sometimes less frequently– 4) children (with parents present). BJCSF staff and volunteers moderate these sessions and most (if not all) have going through some type of training to provide emotional support.
Support meetings are always being added to our Events calendar.
In addition to virtual meetings, BJCSF also hosts in-person support meetings in tandem with the Edcuational Lecture Series sessions that occur in person. Once again, huge thank you to Nancy Feracco who has been handling all the support meetings in Charleston, South Carolina this past year!
Support meetings are always being added to our Events calendar.
For those who do not feel comfortable attending either an in-person or virtual support meeting, or who cannot attend for scheduling/geographical reasons, BJCSF also provides an online support group that functions more like a message board.
Any and all patients, caregivers and family members/friends are welcome to join and add to the conversation!
unite4answers is a collection of fundraiser and awareness events around the country to help fund medical research and education programs that foster better answers. These events bring together people who are living with the devastating effects of Chiari malformation, syringomyelia, Ehlers-Danlos Syndrome and related disorders.
unite4answers supports families in local areas, connecting them to one another. It also supports Bobby Jones CSF financially to continue to provide education, support, and increase awareness, while funding advocacy work and research projects that can potentially find answers to help those who are fighting these disorders!
For the past several years, BJCSF has hosted an annual advocacy event in Washington, DC where patients, families and providers can all come together and make their voices heard on a federal level.
For the past couple of years, we have hosted a half-day of wellness seminars, encouraging and providing the tools for families to improve their quality of life from within.
The following day, we march to The Hill to meet with patients’ and caregivers’ representatives in Congress to share their story and advocate for legislation and research funding that will improve their quality of life from the outside, too!
Patients and caregivers living with Chiari malformation, syringomyelia and related disorders may need help that Bobby Jones CSF can’t provide. These concerns– often referred to as the social determinants of health— are just as important as accessing care. Social and economic issues can even impact symptom presentation or long-term outcomes of treatment.
To try and fill this gap, BJCSF has partnered with our friends at the Child Neurology Foundation and Unite Us to help connect patients and caregivers with services that can help them in the ways that we cannot!
Unite Us has a network of social service programs all around the United States that can help people find local programs that may help with things like health insurance/benefits assistance, clothing and household goods, food or transportation assistance, education or employment services, housing/utilities services, respite care, legal/financial counseling, mental health and other services.
Recently, BJCSF has been getting more and more involved in engaging its population in advocacy to pass certain legislation and provide enough governmental research funding.
In addition to encouraging participants at the unite@thehill and at our unite4answers walks to engage in federal advocacy, in 2023, we have begun piloting more local advocacy efforts in the hopes of extending these advocacy efforts/alerts state-by-state.