Active Projects Led by the Neuro-Oncology Group at CHUM
In-house Study
Among French-speaking young adults aged 18 to 40 who were diagnosed with neurofibromatosis type 1 (NF1) before the age of 18, identifying their medical, psychosocial, material, and educational needs related to family planning—as well as improving the experience of genetic counseling in adult care settings—could help optimize services and resources in adult healthcare. This would better address their needs and reduce anxiety associated with genetic and reproductive uncertainty related to NF1.
Principal Investigator (at CER Éval): Antoine Duquette
Project Number(s): 2019-8057, 18.250 - ID
Young adults with neurofibromatosis type 1 (NF1) face specific needs following their transition to adult care, particularly concerning family planning. A lack of information about heredity and reproductive options can be an additional source of anxiety, highlighting the need for improved support. This study aims to identify the medical, material, psychosocial, and educational needs of these patients in order to optimize genetic counseling and access to information. It will also gather their perspectives and suggestions to enhance support in adult care settings.
In the short term, the goal is to develop tailored tools such as informational guides and digital platforms, and to implement a structured protocol within specialized clinics.
In the longer term, these measures are expected to help reduce patient stress, improve care, and raise awareness among healthcare professionals about the specific challenges faced by this vulnerable population.
Project Number(s): 2019-8057, 18.250 - ID
Principal Investigator: Antoine Duquette, M.D., M.Sc., FRCPC, Neurologist¹
Co-Investigator: Anne Marie Laberge, M.D., Ph.D., FRCPC, Medical Geneticist²
Collaborators: Danny Tremblay, B.Sc. ;Graduate Student in Genetic Counseling Université de Montréal¹; Maria Daniela D’Agostino, M.D., M.Sc., FRCPC, Medical Geneticist³; Nicolas Dupré, M.D., M.Sc., FRCPC, Neurologist⁴; Sébastien Perreault, M.D., M.Sc., FRCPC, Pediatric Neurologist²; Sarah Lapointe, M.D., FRCPC, Neurologist⁵
1 Centre de recherche du Centre hospitalier de l’Université de Montréal (CRCHUM)
2 Centre hospitalier universitaire Ste-Justine (CHUSJ)
3 Centre de santé de l’Université McGill (CUSM)
4 Centre hospitalier universitaire de Québec (CHUQ) - Université Laval
5 Princess Margaret Cancer Center, Toronto, ON
Neurofibromatosis type 1 (NF1) is a common hereditary condition, affecting approximately 3,000 to 4,000 individuals in Quebec. It carries a 50% risk of transmission with each pregnancy and predisposes individuals to the development of various tumors, including pheochromocytomas, which are often diagnosed late in these patients. Currently, screening for these tumors is only recommended in hypertensive patients. However, recent studies suggest that systematic screening may lead to better detection and help prevent serious cardiovascular complications.
The objective of this study is to retrospectively evaluate the prevalence of pheochromocytomas and secreting paragangliomas in patients followed at the interdisciplinary NF1 clinic at the CHUM, by analyzing their biochemical and radiological records. All data will be treated confidentially and coded to ensure the protection of patient privacy. The findings will help assess the relevance of a more systematic screening approach and could lead to adapted recommendations to improve the management of patients with NF1.
Project Number (NAGANO): 2022-10349
Project linked to the Clinical Data Bank for Research Purposes on Neurofibromatosis Type I, Neurofibromatosis Type II, and Schwannomatosis.
Data Bank Manager and Lead: Dr. Sarah Lapointe
Principal Investigators: Dr. Sarah Lapointe and Dr. Isabelle Bourdeau
Co-Investigators: Dr. Zaki El Haffaf, Dr. Moujahed Labidi, Dr. François Guilbert, Dr. Kim-Nhien Vu
Collaborator: Dr. Aurélie Mourot, Internal Medicine Resident
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that leads to the development of nervous system tumors, particularly vestibular schwannomas (VS), which cause progressive hearing loss. Treatment options such as surgery and radiosurgery have limitations, while bevacizumab, an anti-VEGF monoclonal antibody, has shown beneficial effects on tumor size and hearing performance. However, it remains costly, is not reimbursed, and is associated with notable side effects. This retrospective cohort study aims to analyze the radiological and auditory response of NF2 patients treated off-protocol with bevacizumab at the CHUM since 2009. It also seeks to evaluate the treatment’s impact on other tumors and its adverse effects. Based on clinical and paraclinical data from electronic medical records and the SARDO database, the analysis will compare tumor progression and audiological outcomes before, during, and after treatment. All data will be anonymized and securely stored. Results may be published in scientific journals following approval by a research ethics board.
CHUM Research Ethics Board Number: 22.133 (2023-10944)
Principal Investigator: Dr. Sarah Lapointe
Co-Investigators: Dr. Zaki El Haffaf, Dr. Marie Florescu, Dr. Issam Saliba, Marie-Hélène Gosselin (Audiologist)
Collaborators: Dr. Moujahed Labidi, Dr. Julien Rousseau, Andréa Dahoud
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that leads to tumors in the nervous system, particularly vestibular schwannomas (VS), which are responsible for progressive hearing loss and neurological complications. Current treatments, such as surgery and radiosurgery, are limited and carry significant risks. Bevacizumab, a monoclonal antibody targeting VEGF, has shown potential to reduce VS size and improve hearing function, although its use is costly and not reimbursed in Quebec.
This prospective study aims to evaluate the radiological and audiological response of NF2 patients treated at the CHUM under a standardized protocol, compared to a historical cohort treated off-protocol. The study will also assess the impact of bevacizumab on quality of life, associated complications, and the effectiveness of audiological tests. Data will be collected securely and anonymized, and findings may be published following ethics board approval.
CHUM Research Ethics Board Number: 22.132 (2023-10950)
Project linked to the Clinical Data Bank for Research Purposes on Neurofibromatosis Type I, Neurofibromatosis Type II, and Schwannomatosis
Data Bank Manager: Dr. Sarah Lapointe
Principal Investigator: Dr. Sarah Lapointe
Co-Investigators: Dr. Zaki El Haffaf, Dr. Marie Florescu, Dr. Issam Saliba, Marie-Hélène Gosselin (Audiologist)
Collaborators: Dr. Moujahed Labidi, Dr. Julien Rousseau (Adult Neurology Resident), Andréa Dahoud (Medical Student)
Cerebrovascular abnormalities in patients with NF1 are often underestimated and diagnosed late. This project aims to determine their prevalence using dedicated brain imaging sequences. The goal is to better understand associated risk factors, enable earlier detection of at-risk patients, optimize monitoring, and reduce the risk of stroke through timely intervention.
Project Number (NAGANO): 2026-13198
Principal Investigator (at CER Éval): Dr. Sarah Lapointe
Lead Researcher: Dr. Sarah Lapointe
Co-Investigators: Dr. Émilie Everard, Dr. Julien Paul, Dr. Moujahed Labidi
Collaborators: Dr. Zaki El Haffaf
The transition to adult care is a critical step for young patients with NF1, who may lack knowledge about their disease and face neurodevelopmental or psychological challenges. This project aims to assess the effectiveness of the transition program from CHUSJ to CHUM by evaluating the number of patients transferred, factors contributing to loss of follow-up, transition readiness, quality of life, and patient perceptions.
Project Number(s): MEO-21-2026-12978, MP-21-2026-8873
Principal Investigators (at CER Éval): Dr. Sébastien Perreault and Dr. Sarah Lapointe
Lead Researcher: Dr. Sarah Lapointe
Co-Investigators: Dr. Sébastien Perreault
Collaborators: Dr. Émilie Everard
Multicenter Study
Observation or Radiation Therapy in Treating Patients With Newly Diagnosed Grade II Meningioma That Has Been Completely Removed by Surgery
ClinicalTrials.Gov: # NCT03180268
Principal investigator: Dr. Jean Paul Bahary
This Phase 3 clinical trial aims to compare the efficacy of niraparib versus temozolomide (TMZ) in adults with newly diagnosed, MGMT unmethylated glioblastoma multiforme (GBM). The main objectives are to determine whether niraparib improves progression-free survival (PFS) and overall survival (OS) compared to TMZ. 450 participants will be randomized to receive either niraparib or TMZ alongside standard radiation therapy for 6–7 weeks, followed by adjuvant treatment depending on response.
ClinicalTrials.Gov: #NCT06388733
Chercheur responsable local : Dre. Sarah Lapointe
ClinicalTrials.Gov: # NCT00887146
Principal investigator: Dre Sarah Lapointe
ClinicalTrials.Gov: # NCT04114981
Principal Investigator: Dr David Roberge
ClinicalTrials.Gov: #NCT02831959
Investigateur Principal : Dr David Roberge
ClinicalTrials.Gov: # NCT04471844
Investigateur Principal: Dre Sarah Lapointe
ONC201 for the Treatment of Newly Diagnosed H3 K27M-mutant Diffuse Glioma Following Completion of Radiotherapy: A Randomized, Double-Blind, Placebo-Controlled, Multicenter Study
ClinicalTrials.Gov: # NCT05580562
Investigateur Principal: Dre Sarah Lapointe
ClinicalTrials.Gov: # NCT03550391
Investigateur Principal: Dr David Roberge
Testing the Addition of the Chemotherapy Drug Lomustine (Gleostine®) to the Usual Treatment (Temozolomide and Radiation Therapy) for Newly Diagnosed MGMT Methylated Glioblastoma
ClinicalTrials.Gov: # NCT05095376
Investigateur Principal: Dr Jean Paul Bahary
Comparing the Addition of Radiation Either Before or After Surgery for Patients With Brain Metastases
ClinicalTrials.Gov: # NCT05438212
Investigateur Principal : Dr Moujahed Labidi