Submitting Organization

The National Gaucher Foundation of Canada is a voluntary group of individuals, families, health professionals and affiliated organizations with the purpose of providing support and information to those afflicted with Gaucher Disease, and their families and caregivers.

Conflict of Interest Declarations

a)

We have the following declaration(s) of conflict of interest in respect of corporate members and joint working, sponsorship, or funding arrangements: In 2015 & 2016 The National Gaucher Foundation of Canada received unrestricted educational grants, to help fund our patient support efforts, from: Shire Canada, Actelion Pharmaceuticals Ltd, Genzyme Canada, and Pfizer Canada.

b)

We have NO declaration(s) of conflict of interest in respect of those compiling this submission.

Information Gathering

To assess the challenges patients and caregivers face as a result of the disease, and to gain insight into their experiences with therapies used to treat Gaucher disease, The National Gaucher Foundation conducted an online survey of patients and caregivers from February 15 to March 21, 2016. Portions of the survey had a focus on Cerdelga (eliglustat). Additionally, the Foundation reached out to 2 treating clinicians to get their views on issues regarding existing treatments and unmet needs in treating Gaucher disease. This report reflects the results of the survey as well as the input from expert clinicians. A total of 37 individuals responded to the patient/caregiver survey. Respondents identified as “patient” n=32 (86.5%), “caregiver” n=4 (11%) or “other” n=1 (2.5%). The “other” respondent reported as second, non-prime caregiver spouse.

Respondents-by-Country: Canada n=31 (84%), Denmark n=1, Spain n=1, Slovenia n=1, Mexico n=1, Croatia n=1, Germany n=1. 22 of 31 Canadian Respondents identified their province of residence with their province of residence as follows:

BC: 2

AB: 4

MB: 1

ON: 13

QC: 1

PE: 1

We asked: What type of Gaucher patient are you? Total Respondents: 36. Thirty-three (33) respondents reported having Type 1 Gaucher disease, 1 reported having Type 2, and 1 reported having Type 3. 1 respondent was unsure. 7 survey participants (6 patients and 1 caregiver) had experience with Cerdelga (4 from Canada, 1 from Germany, 1 from Croatia and 1 from Denmark).

Additional background information about Gaucher disease was sourced from The National Gaucher Foundation of Canada website (www.gauchercanada.ca).

Impact of Condition on Patients

People with Gaucher disease, along with their families, must endure a wide range of emotional, social and physical challenges. Some individuals with Gaucher disease develop life-threatening conditions during childhood, while others do not experience symptoms until they are elderly. Nonetheless, Gaucher disease is progressive and, if left untreated, will usually become worse over time.

When Gaucher disease is diagnosed, frequently after a long diagnostic odyssey, there is often a feeling of uncertainty about the future because symptoms can vary so widely among patients, and can manifest at any time. For Gaucher patients who suffer from pronounced spleen and/or liver enlargement, body image can be a difficult challenge. Children (and adults) may be derided for appearing overweight, pregnant, or peculiar. For children, who can be very conscious of their appearance, the emotional and psychological toll can be significant.

Some Gaucher patients experience tremendous fatigue – resulting from anemia and an enlarged liver or spleen. Severely anemic patients may feel tired even after a full night’s sleep, and regular activities may be very difficult and exhausting. Additionally, Type 1 Gaucher patients frequently experience severe bone pain which can often limit normal activities, make slight movements painful, make sleeping difficult, and may require hospitalization. For children, bone pain, and other physical manifestations of the disease, serve to limit their ability to participate in many activities and isolate them from their peers.

We asked patients in the survey: What symptoms of Gaucher disease have had the most impact on you, or on the person under your care? (Select all that apply).

We asked: How has Gaucher disease had an impact on your life (or on the life of the person under your care)? Pick all that apply.

Patients’ Experiences With Current Therapy

Gaucher disease-specific treatments have the goal of reducing the amount of glucocerebroside in cells and to minimize the effects of the disease/slow down the worsening of symptoms. There are two main types of disease-specific therapies: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). ERT addresses the enzyme malfunction by replacing and/or providing additional enzyme (glucocerebrosidase) that a person with Gaucher disease needs, while SRT reduces the production and build-up of glucocerebroside by blocking the absorption of materials (certain carbohydrates) that are used by cells to make glucocerebroside. Drugs approved in Canada for the treatment of Gaucher disease are Cerezyme/imiglucerase (IV) and VPRIV/velaglucerase alfa (IV), both ERTS, and Zavesca (miglustat) - (oral administration) an SRT. Zavesca has limited use in Canada as CEDAC in 2004 had recommended it “not be listed”. Both ERT therapies (imiglucerase and velaglucerase) require biweekly IV infusions over a lifetime, causing significant interference with school, careers, recreational and domestic activities. Further, current ERT therapies are associated with limited tissue distribution --- which may explain why bone manifestations, despite treatment with ERT, remain among the most painful and debilitating impacts of type I Gaucher.

We asked: If your current treatment is with Enzyme Replacement Therapy (ERT), do you have residual bone disease or skeletal complications despite treatment? Including: bone pain, osteopenia (reduced bone mass), osteoporosis (bones become brittle/fragile), osteonecrosis (bones begin to break down) or joint collapse. Total Respondents: 30. 50% of patients report residual bone diseases.

Impact on Caregivers

We asked caregivers: What is your caregiver experience with Gaucher disease? (a) How has Gaucher disease affected your daily routine or lifestyle? (b) What challenges have you had to deal with related to symptoms of Gaucher disease in the person under you care?

• Travelling to visit family abroad poses some difficulties due to getting the medication and supplies approved for transport. Other than that our daily routine or lifestyle is not affected. B) The patient could not walk for a period of time due to bone crisis during her childhood which was taxing on me emotionally and physically. I have had to deal with other symptoms early on in the diagnosis but not as much now.
• I am always fearful for my son. He feels like he sticks out in a crowd because he cannot participate in most things. We plan our schedule around his appointments, which take us out of province, hotel stay, bridge fees, car rental fees, food, etc...all out of pocket 2-3 times a year. This is not covered by government. Home infusions are handled by a visiting nurse who is afraid of our dogs, so an adult needs to be present with the dogs foe the few hours she is here biweekly.
• We have to live with knowing the outcome of our sons life, as he has type 3, We spend a lot of time researching new drugs and therapies. Our other children feel slighted sometimes, by the attention that is needed to care for the brother. Our son has neurological issues, which can lead to Behaviour issues. It’s hard to watch your child in pain or going through tests that he doesn’t understand, and not being able to do anything for them.
• My mother has Gaucher Disease. As she aged, she s able to do less. Therefore, I try to be available to help her physically.

Information Gathering

The National Gaucher Foundation conducted an online survey of patients and caregivers from February 15 to March 21, 2016. Portions of the survey had a focus on Cerdelga (eliglustat).

What Are the Expectations for the New Drug or What Experiences Have Patients Had With the New Drug?

a)

Based on no experience using the drug, we Asked: With 1 being “not important” and 5 being “very important” - If your current or previous treatment for Gaucher disease was administered by IV infusion in a hospital or clinic setting, how important would it be for you to have a treatment option, to discuss with your doctor, that was a capsule/pill that you could take at home? Total Respondents: 31. Weighted Average was 4.68. 84% (n=26) answered “5”.

b)

Based on patients’ experiences with the new drug, we asked: What side effects (if any) have you experienced using Cerdelga? Pick all that apply.

We asked: With 1 being “no improvement” and 5 being “significant improvement” please indicate how you feel Cerdelga has improved the management of your Gaucher disease. 6 patients with Cerdelga experience answered the question. Weighted Average = 4.33