Vigil Presents Poster on Impacts of Misdiagnosis and Genetic Testing on Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Patient Journey at ACTRIMS 2024


Poster highlights clinical overlap of ALSP and multiple sclerosis (MS) and details patients’ barriers to genetic testing

WATERTOWN, Mass., Feb. 29, 2024 (GLOBE NEWSWIRE) —  Vigil Neuroscience, Inc. (Nasdaq: VIGL), a clinical-stage biotechnology company committed to harnessing the power of microglia for the treatment of neurodegenerative diseases, today presented a poster detailing the impact of misdiagnosis and the importance of genetic testing at the 2024 ACTRIMS Forum being held in West Palm Beach, Florida, from February 29 – March 2.

The poster outlines a systematic literature review of ALSP clinical features, results from a survey circulated to the ALSP community, and data gathered from a structured patient journey workshop which included perspectives on barriers to genetic testing and the impact of misdiagnosis.


“We continue to hear from members of the ALSP community that the path to an accurate diagnosis can be difficult, indirect, and time consuming. As with many rare diseases, the misdiagnosis of ALSP can be a significant and persistent challenge to overcome. Genetic testing allows those affected to not only understand their symptoms and disease, but to make informed decisions for themselves and their loved ones,” said Ivana Magovčević-Liebisch, Ph.D., J.D., President and Chief Executive Officer of Vigil. “Our ongoing collaboration with the ALSP community has allowed us to make incredible strides in both our reach and research – leading to our no-cost genetic testing and counseling program ALSPAware and our clinical progress with iluzanebart. By understanding and documenting the unique aspects of the ALSP patient journey, we hope to provide answers, resources, and support to those impacted by ALSP.”

This retrospective analysis revealed that only 24.7 percent of these patients received an accurate initial diagnosis of ALSP, and multiple sclerosis (MS) was one of the most common misdiagnoses. ALSP and MS are both neurodegenerative diseases that may initially present with similar motor and neuropsychiatric symptoms. However, the combination of white matter abnormalities, rapidly progressive behavioral, cognitive, or motor dysfunction symptoms, and/or family history of a neurodegenerative disease support the utility of genetic testing for ALSP.

Vigil’s research revealed that the most prominent barriers to genetic testing include uncertainties around how to pursue testing, fear of results, potential financial impact, and challenges with managing care. It also showed that when considering genetic testing, access to approved treatments may be a motivator for patients, family members, and clinicians.


  • A systematic literature review of ALSP clinical features was conducted with published case studies from 1980–2022.
  • A structured patient journey workshop was hosted as a means of better understanding life with ALSP, including the impact of misdiagnosis and barriers to genetic testing.
  • To further understand behaviors and attitudes towards genetic testing for ALSP, an online survey was circulated to the ALSP community, which yielded responses from healthcare providers and individuals with CSF1R mutations and/or family members of those with CSF1R mutations.

Poster Details:

Title: Clinical Overlap of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) and Multiple Sclerosis (MS) – Impact of Misdiagnosis and Genetic Testing on the ALSP Patient Journey

Date and Time: Thursday, February 29 at 6:00 pm ET

Poster Session: Poster Session 1

Poster Number: P126

The poster can be accessed on the Publications page on the Company’s website.

About Vigil Neuroscience

Vigil Neuroscience is a clinical-stage biotechnology company focused on developing treatments for both rare and common neurodegenerative diseases by restoring the vigilance of microglia, the sentinel immune cells of the brain. Vigil is utilizing the tools of modern neuroscience drug development across multiple therapeutic modalities in its efforts to develop precision-based therapies to improve the lives of patients and their families. Iluzanebart, Vigil’s lead clinical candidate, is a fully human monoclonal antibody agonist targeting human triggering receptor expressed on myeloid cells 2 (TREM2) in people with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare and fatal neurodegenerative disease. Vigil is also developing VG-3927, a novel small molecule TREM2 agonist, to treat common neurodegenerative diseases associated with microglial dysfunction, with an initial focus on Alzheimer’s disease (AD) in genetically defined subpopulations.

Forward-Looking Statements

This press release includes certain disclosures that contain “forward-looking statements” of Vigil Neuroscience (“Vigil” or the “Company”) that are made pursuant to the safe harbor provisions of the federal securities laws, including, without limitation, express or implied statements regarding: the extent to which patient engagement, genetic testing and ALSPAware contribute to our ability to develop answers, resources and otherwise support those impacted by ALSP and the extent which such information will help advance our product candidates, including VGL101. Forward-looking statements are based on Vigil’s current expectations and are subject to inherent uncertainties, risks and assumptions that are difficult to predict. Factors that could cause actual results to differ include, but are not limited to, risks and uncertainties related to uncertainties inherent in the identification and development of product candidates, including the conduct of research activities and the conduct of clinical trials; uncertainties as to the availability and timing of results and data from clinical trials; whether results from preclinical studies and clinical trials will be predictive of the results of later preclinical studies and clinical trials; as well as the risks and uncertainties identified in the Company’s filings with the Securities and Exchange Commission (SEC), including Vigil’s Quarterly Report on Form 10-Q for the quarter ended September 30, 2023 and in any subsequent filings Vigil makes with the SEC. Forward-looking statements contained in this announcement are made as of this date, and Vigil undertakes no duty to update such information except as required under applicable law. Readers should not rely upon the information on this page as current or accurate after its publication date.

Internet Posting of Information

Vigil Neuroscience routinely posts information that may be important to investors in the ‘Investors’ section of its website at The company encourages investors and potential investors to consult our website regularly for important information about Vigil Neuroscience.

Investor Contact:

Leah Gibson
Vice President, Investor Relations & Corporate Communications
Vigil Neuroscience, Inc.
[email protected]

Media Contact:
Megan McGrath
MacDougall Advisors
[email protected]


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