Patient advocate calls for retraction of mystery brain disease report from U.S. medical journal

An advocate for New Brunswick patients suffering from unusual neurological symptoms is calling for the retraction of a recent scientific report that found no evidence of a mystery brain disease in the province.

Katherine Lanteigne, the former executive director of BloodWatch, is alleging research bias and privacy breaches in the study published last month in the Journal of the American Medical Association, or JAMA Neurology.

Lanteigne said she has written to the University Health Network's research ethics board in Toronto and to the Horizon Health Network and its MIND Clinic in Moncton. She intends to file formal complaints of research misconduct as well.

She has asked the University Health Network, or UHN, to issue a formal apology for allegedly "flagrantly violating the privacy and dignity of patients."

"This study strips patients of their dignity, it runs roughshod over their protected privacy rights and is another example as to how and why patients are retraumatized by the medical establishment that they should be able to trust," Lanteigne wrote in her May 14 letter, provided to CBC News.

It's the latest development in a debate over whether there is a mystery new illness, as Moncton neurologist Alier Marrero and three other physicians flagged as possible nearly five years ago, and the quest for answers about what's making people sick.

The study, led by neurologist Anthony Lang, a senior scientist at UHN's Krembil Brain Institute, reassessed 25 of 222 patients diagnosed by Marrero as having a "neurological syndrome of unknown cause." Their symptoms ranged from painful muscle spasms and hallucinations to memory loss and behavioural changes.

The researchers concluded all 25 patients, including 11 who have died, had well-known conditions, such as Alzheimer's and Parkinson's, functional neurological disorder, traumatic brain injury, and metastatic cancer.

Despite the small sample size, "the chances of any of those other individuals having a mystery disease was less than one in a million," Lang has said, describing the numbers as "very convincing."

The province continues to conduct its own investigation to "further understand concerns" Marrero raised about elevated levels of certain environmental substances — such as heavy metals and the herbicide glyphosate — in some patients, who he says now number more than 500 across seven provinces. Fifty of them have died.

In her letter to the University Health Network, Lanteigne contends five of the 13 authors failed to publicly disclose they had prior involvement with the New Brunswick cluster of patients, which she describes as "deeply problematic as it demonstrates a research bias."

WATCH | Woman says her stepdaughter's data was used in JAMA study without consent:

An advocate for patients suffering from unusual neurological symptoms is calling for a Journal of the American Medical Association report, which found no evidence of a mystery brain disease in the province, to be retracted.

Lanteigne does not have any scientific or medical training but said she understands public policy and people's rights through her previous advocacy work.

She said has read nearly 30,000 pages of documents obtained through information requests about the cases.

According to Langeigne, Sylvia Gautreau of the MIND Clinic, where Marrero used to treat patients, did not reveal she served as researcher for the province's oversight committee during an investigation into the original cluster of 48 patients in 2021.

Much like the JAMA report, that investigation concluded the patients did not have a common illness and offered "potential alternative diagnoses" for 41 of them.

Similarly, Lanteigne said, the documents show neurologist Sarmad Al-Shamaa and geriatricians Annette Thebeau and M. Jason MacDonald did not reveal they co-signed a letter with Marrero in September 2020, alerting the province's chief medical officer of health about "an unexpected increased number of cases of atypical rapidly progressive dementia" over the previous two years.

This non-disclosure, according to Lanteigne, perpetuates a falsehood it was Marrero alone who had raised the alarm.

Meanwhile, she said, neuropathologist Gerard Jansen did not disclose he contributed to the case definition of the "progressive neurological syndrome of unknown etiology" that Public Health sent to doctors, nurses and other health-care professionals in early 2021, advising them to be on the lookout.

"They have to disclose," Lanteigne contends, "because they argue that they're independent."

Researchers in Canada are expected to disclose any potential or perceived conflicts of interest when they undertake a study.

Lanteigne also takes issue with consent being waived for a patient who had declined.

Stacie Quigley Cormier of Dalhousie Junction said her stepdaughter Gabrielle Cormier is the patient included against her wishes.

Gabrielle, 23, one of Marrero's youngest patients, began exhibiting symptoms in 2019, and now suffers from extreme fatigue, struggles with concentration and memory, and depends on a cane or wheelchair.

According to Quigley Cormier, UHN called Gabrielle about using her data and she said no. UHN then sent an email, which Gabrielle did not respond to.

Although Gabrielle is not named in the report, Quigley Cormier said they "could clearly see" it was her, which UHN has confirmed in an email, shared with CBC News.

They "broke her trust and her privacy," said Quigley Cormier, who has also requested a retraction and apology.

Marrero, in an emailed statement, said he has "many questions" about the study's consent process and access to patients' files.

"Numerous" patients or their families have expressed privacy concerns to him, he said. Some of the published information could lead to patients' identification because it's such a small group of cases, he said, calling it "troubling."

In addition, Marrero said he was not informed by the Public Health Agency of Canada's Creutzfeldt-Jakob Disease Surveillance System that any of his patients' autopsy results were going to be published, or even that a study including them was being conducted.

He also questioned whether some patients not part of the New Brunswick cluster were included, as some of the published pathology information does not correspond to any patient he reported to the Creutzfeldt-Jakob Disease Surveillance System

"These disturbing facts create further confusion and mistrust."

Lanteigne is calling on the Public Health Agency of Canada to launch an investigation into the release of patient data from the surveillance system for the study.

In a separate letter to the federal agency, she contends the Creutzfeldt-Jakob Dsease Surveillance System unit is the "custodian" of autopsy results, aside from the referring neurologist and a patient's power of attorney, yet seven patients whose families did not consent were included in the report.

She also wants the health agency to notify the seven families and report what it's doing to ensure it doesn't happen again.

CBC News requested interviews with the University Health Network and Lang. Both declined through the manager of external communications, Ana Fernandes.

"It is not our practice to comment on unsubstantiated allegations or speculative claims," she said in an emailed statement.

Asked whether the health network will ask JAMA to retract the report, Fernandes wrote: "UHN does not determine whether a scientific article is published or retracted."

But Fernandes stressed UHN is "committed to the highest standards of scientific integrity, transparency, and ethical research." All of its clinical research studies undergo "rigorous" oversight and approval by its research ethics board, which operates under federally regulated guidelines, she said.

"The study published in JAMA Neurology followed the established scientific process, including third-party peer review by an internationally respected medical journal," Fernandes wrote.

It "contributes new evidence intended for consideration and interpretation by the broader scientific community."

Anyone with concerns should contact UHN's research integrity office, she added.

JAMA officials did not respond to a request for comment.

Co-authors Gautreau, Thebeau and MacDonald all declined interviews through Horizon Health Network. Al-Shamaa was unavailable for comment.

Jansen, of Ottawa, declined an interview but in an email said he previously had his legal team issue Lanteigne a cease-and-desist letter over alleged "smear letter campaigns" against him since 2022.

He did not respond directly to Lanteigne's latest allegation regarding a lack of disclosure but said he assisted "very reluctantly" with developing the "cluster criteria" in late-2020 as "no common symptoms and causes had become apparent" in his review of the patients' files.

Jansen, while working for the Public Health Agency of Canada, had concluded eight people thought to have a mystery neurological illness did not die from something new and unknown, and published the autopsy findings online without the federal agency's knowledge or approval.

In his email, Jansen denied any bias. "My work as [a] physician specializing in these type of classifications require[s] me to make an independent assessment of many patients, before drawing any conclusions," he wrote.

For the study, pathology information was "shared as appropriate" with the University Health Network, Horizon and the Moncton Hospital at their request, given approval by their research ethics boards, Jansen said.

It's normal for institutions to have correspondence copies on patients they care for, he said. Contact with the Public Health Agency of Canada "would have been unwanted as the study was to be a fully independent study, avoiding undue influence from PHAC."

"The same is true for the neurologist who saw these patients and who was also at the cradle of this cluster: his consent or collaboration was not sought, not necessary, nor wanted for an independent investigation," Jansen said, referring to Marrero.

By accusing us as authors, and sowing unjustified doubt on a scientifically very strong and courageous study, Ms. Lanteigne interferes with the patients' potential to get a real diagnosis and potential treatment.- Gerard Jansen, neuropathologist

Informed consent was obtained "where possible," Jansen said. Otherwise, consent was waived by UHN and Horizon/the Moncton Hospital, according to national standards, he said.

All identifying information was removed, "making the accusation that privacy was violated utter nonsense," he said.

"By accusing us as authors, and sowing unjustified doubt on a scientifically very strong and courageous study, Ms. Lanteigne interferes with the patients' potential to get a real diagnosis and potential treatment," Jansen alleged.

The Public Health Agency of Canada is aware that some people have expressed concern regarding the use of case information in the study published in JAMA Neurology, said spokesperson Anna Maddison.

"PHAC takes concerns raised by patients and families seriously," she said in an emailed statement.

"There is no indication that PHAC's privacy policies were breached in connection with this publication, based on available information at this time."

PHAC was not involved in the planning, funding, or conduct of the study, Maddison added.