Treatment and research

The Association de la neurofibromatosis du Québec’s goal is a world without NF. To achieve this, we constantly encourage research to find effective treatment(s) for everyone affected by the disease. We’re working hard to expand knowledge and advance care for the NF community. We believe in a life without NF!

Treatments

Treatments can act on the complications of the disease and the tumours it can cause. For example, neurofibromas that cause discomfort and pain, interfere with function or are cancerous can be removed by surgery. The important thing to remember is that not all neurofibromas need to be removed. Surgery may also be beneficial for severe scoliosis, but physiotherapy or a corset may suffice for less pronounced scoliosis.

In some cases, we can give vitamin D, treat high blood pressure, give anti-epileptic drugs, and so on.

In addition, certain drugs (chemotherapy) or radiotherapy can be used for certain types of cancer.

Koselugo (selumetinib) is the first and only pediatric therapy approved by Health Canada for treating NF1 with plexiform neurofibroma (PN). It is now available in Québec. For patients with NF1 with PN, this good news fills an important need, as there were no options for patients with inoperable NF1 with PN. According to a Canadian study, 82% of patients confirmed a long-term response, i.e. a halt in disease progression, 66% of patients experienced shrinkage (20% tumour reduction), which is clinically a significant improvement in pain intensity and better functionality.

To find out more about Koselugo, please visit this page: https://koselugo.com/

For NF2-related schwannomatosis, there is no official cure, but promising advances in research are underway. People with schwannomatosis are best served in an NF clinic, where multidisciplinary specialists experienced in schwannomatosis can manage the various tumours and pain management.

Search

Research into neurofibromatosis has made great strides in recent years. Several studies on neurofibromatosis are underway in Québec and elsewhere in the world.

CURRENT RESEARCH IN QUÉBEC

Retrospective study on the prevalence and clinical, biochemical and genetic characteristics of pheochromocytomas in patients with neurofibromatosis type 1

Main objective : The objective of the project is to retrospectively determine the prevalence of pheochromocytomas and secretory paragangliomas in patients managed at the interdisciplinary NF1 clinic at the CHUM who underwent biochemical and radiological screening for pheochromocytomas and biochemical screening for paragangliomas.
Study leader: Dr. Sarah Lapointe/Co-researchers and collaborators: Isabelle Bourdeau, Zaki El Haffaf, Moujahed Labidi, François Gulbert, Kim Vu, Aurélie Mourot and Tzvetlena Hristova
Where: CHUM
Summary : Issue: Neurofibromatosis type 1 (NF1) is one of the most common hereditary diseases, affecting nearly one person in 3,000, or around 3,000-4,000 people in Québec. It is also a tumour-prone syndrome, with a significantly increased risk of benign and malignant tumours of the central and peripheral nervous system, breast cancer, gastrointestinal stromal tumours (GISTs), and pheochromocytomas, among others. Recent data suggest a benefit to systematic screening for pheochromocytomas in NF1 patients, even if they are normotensive and asymptomatic.
Résults : To come

Retrospective cohort study on the use of bevacizumab for the treatment of NF2-associated vestibular schwannomas at the CHUM

Main objective: The main objective is to characterize the radiological and auditory response rate in patients with NF2 and secondary VSs treated at the CHUM with off-protocol bevacizumab since 2009.
Study leader: Dr. Sarah Lapointe/Co-researchers and collaborators: Zaki El Haffaf, Moujahed Labidi, Marie Florescu, Issam Saliba, Marie-Hélène Gosselin, Julien Rousseau and Adrea Dahoud
Where: CHUM
Abstract: Neurofibromatosis type 2 (NF2) is an autosomal dominant neurocutaneous syndrome characterized by the development of tumours of the nervous system. The most frequent include vestibular schwannomas (VS), typically bilateral, meningiomas and ependymomas.
Results: To come

Prospective cohort study with historical control group on the use of bevacizumab for the treatment of NF2-associated vestibular schwannomas at the CHUM

Main objectives: 1. To measure radiological and audiological response in patients with NF2 treated for VS at the CHUM since the prospective protocol was introduced and to compare this response with that measured in the historical control group. 2. Evaluate the impact of treatment on subjective hearing function and quality of life in prospectively followed patients.
Study leader: Dr. Sarah Lapointe/Co-researchers and collaborators: Zaki El Haffaf, Moujahed Labidi, Marie Florescu, Issam Saliba, Marie-Hélène Gosselin, Julien Rousseau and Adrea Dahoud
Where: CHUM
Background: Neurofibromatosis type 2 (NF2) is an autosomal dominant neurocutaneous syndrome characterized by the development of tumours of the nervous system. The most frequent include vestibular schwannomas (VS), typically bilateral, meningiomas and ependymomas.
Results: To come