The Chiari Clinical Research Consortium was formed 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 information and find answers for struggling families even faster.

BJCSF and the CCRC Executive Committee received interest from clinics around the country and the world. Over 30 sites expressed interest in becoming a part of this multi-center effort and the Consortium continues to grow, now with 17 active sites. The Consortium is in the next steps planning ahead for new research efforts!

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.

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. Dr. Belinda Shao won the most recent award in 2023. We are excited to see the excellent winner this coming December!

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.

Many neurosurgical conditions tend to be complex and chronic, requiring ongoing, multidisciplinary care from childhood through adulthood. The transition from pediatric to adult care is a critical period that significantly impacts patient outcomes. Currently, transitioning patients from pediatric to adult care is clunky at best and it's made even more difficult when you factor in the increased specialization and fractured health care system that we have in this country. BJCSF is actively involved in ongoing research to identify successful transition of care programs with the NAC and AANS/CNS Joint Section on Pediatric Neurosurgery. The end goal is to develop guidelines to simplify the implementation of transition programs at clinics and hospitals around the country, regardless of the varied availability of resources at each site. Addressing issues of transitioning care can lead to improved patient outcomes, more efficient use of healthcare resources, and better overall quality of life for neurosurgical patient populations.

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 2024 meeting took place in Chicago, IL.

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 2024 International Hydrodynamics Symposium took place in Sydney, Australia. The next meeting is being scheduled for 2026.

Each year, the BJCSF 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 2024 meeting is set for Sept 28, 2024 in Houston, Texas. Continuing medical education credits will be offered for the first time, jointly presented by BJCSF and Baylor University.

A retrospective analysis of a single clinic's patients, assessed quality-of-life before and after cranio-cervical fusion surgery for cranio-cervical 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 process has been completed for pediatric patients, under the guidance of SEA Board member Dr. Richard Anderson. We are awaiting The adult patient effort is now underway, guided by another SEA Board member, Dr. Vijay Ravindra.

There had not been any clinical guidelines for the neurosurgical treatment of Chiari malformation available. The Congress of Neurological Surgeons asked BJCSF to participate in an effort to develop guidelines for care in 2021. The surgeons involved performed a systematic review of the medical literature and identified what recommendations could and could not be made. Recommendations and publications can be found here, here and here!

You can watch SEA Board member and Guidelines lead, Dr. David Bauer, describe this process a little bit in a 2021 virtual Ask the Expert video.

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. Unfortunately, the medical literature was lacking and there were very few recommendations that could be made with certainty. This work continues to add to the literature and new guidelines will be published as more research is developed by the Chiari Clinical Research Consortium and others!

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!

The team is also 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 was recently awarded an impressive NIH grant to study Chiari more generally and BJCSF will continue to be a valued patient partner disseminating this great work!

Our international registry of patients and caregivers impacted by Chiari malformation, syringomyelia and related disorders is going through an evolution. Recent work is being prepared for publication. And BJCSF is in the process to develop a 5-Year Plan of research priorities to direct this work in the future. Our goal is 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 was 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 hoped 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!

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 partners 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!