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Pave a path of hope for Gaucher disease

bone pain and bone crisis
Getting involved in clinical research and the medication approval process

Research and patient accounts of their experiences suggest that bone complications—including bone pain and bone crisis—remain a significant challenge for people with Gaucher disease, even with available treatments like enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).1,2,3

ERT has been life saving for people all over the world but it still requires infusions every other week for the rest of a patient’s life, which can mean port complications as well as interruptions at work or when engaging in activities with family, regardless of whether the infusions are done in an infusion center or at home.4,5,6,7 While ERT does improve some symptoms of Gaucher disease, bone issues remain an often-overlooked complication.8 SRT, taken as a pill every day4, generally helps with bone complications more than ERT, but is not suitable for all patients with Gaucher disease and still does not fully address all bone issues.

Therefore, a clear need exists for new treatment options that not only better address bone complications, but also address pain, fatigue, and neurologic symptoms, slow or halt disease progression, reduce the burden of bi-weekly treatments, and minimise adverse impact on quality of life. 

Clinical trials are the lifeblood of new treatments and new discoveries for all diseases, and the success of clinical trials relies on the participation of patients and caregivers. Volunteering in a clinical trial means becoming a partner in scientific research and can help accelerate medical breakthroughs in treatments for Gaucher disease and other diseases across the world.

bone pain and bone crisis
Clinical trials: Uncovering the facts

Clinical trials are research studies that evaluate therapies or medical devices. They are the primary way researchers and regulators find out if a new treatment is:​

  • safe and effective in people
  • more effective and/or has less harmful side effects than current available treatments (called superiority), or
  • not unacceptably less effective or less safe than current available treatments (called non-inferiority)9

Clinical trials can also test ways to find a disease early, prevent or delay a health problem, or look at how to make life better for people. Sometimes, clinical trials will study the role of caregivers and support groups, too.10

In the United States, these trials are usually conducted by academic institutions or pharmaceutical or biotech companies that develop the therapies and are overseen by the U.S. Food and Drug Administration (FDA). In Europe, clinical trials are overseen by regulatory authorities in individual countries. Regulatory agencies such as the FDA and European Medicines Agency (EMA) rely on data from clinical trials to understand the benefits and risks of an investigational therapy, and whether a therapy should be approved for use. In addition to data from clinical trials, regulatory agencies also want and value patient input to inform their decisions. Below, you’ll find a few ways to engage with regulatory agencies in the medication approvals process. 

bone pain and bone crisis
Hope for the community

Clinical trials and the promise of new treatments provide hope to the rare disease community. Taking part in a clinical trial is an incredibly personal decision. For some people, the treatments they’ve tried so far may not have worked as effectively as they desired and being a part of a clinical trial may allow them to find out about new treatments before they are available.

For others, joining a clinical trial may be a way to take a more active role in their own care, to help researchers learn more about a condition, or to help family members or future generations.10

If you are interested in taking part in a clinical trial, learn as much as you can. Your doctor is an excellent resource that can help determine if a trial is a good option for you. Before you take part in a trial, make sure you understand the potential risks and benefits and share all your questions and concerns with your doctor and the researchers involved in the study. Patient advocacy organisations are also a great resource to learn about clinical trials. 

Happening now! Clinical trials in Gaucher 

There are many different types of clinical trials underway for Gaucher disease, including those that:11

  • investigate new types of treatments such as gene therapy and pharmacological chaperone therapy
  • assess how effective new or existing therapies are at reducing certain symptoms
  • evaluate how well a specific research tool or lab test works in individuals with conditions like Gaucher disease
  • are natural history studies, which follow people over time to monitor symptoms and outcomes, without any change to their usual care or treatment

For the most up-to-date information on clinical trials available in Gaucher disease, visit and search the term “Gaucher disease”.

How can you pave a new path?

Taking part in clinical trials means contributing to scientific research that makes future treatments possible for the community. 
​Learn more about what is involved in participating in clinical trials here.

In addition to participating in clinical trials, engaging with regulatory agencies such as the FDA or EMA in the regulatory approval process (the process by which new medications and therapies are reviewed and authorized for use) or advocacy organisations can also help to make meaningful changes for individuals affected by rare conditions such as Gaucher disease:

  • Weigh in on FDA regulatory approval processes – Submit written comments to the FDA about the rules and processes it uses to regulate drugs and therapies. Find out where to submit here
  • Participate in an FDA Patient Listening Session – Share your experience living with your disease or condition and help the FDA learn what’s important to the community. Learn how here

Join a committee – Get involved with the EMA by sharing your experience, providing advice on protocols and procedures, and joining scientific committees. Learn more here  

Work with a patient advocacy group near you – Patient advocacy groups (PAGs) can be found around the world and provide patient- and caregiver-oriented education, advocacy, and support services. 

Clinical trial volunteers are essential to advancing scientific research but engaging with regulatory agencies and patient advocacy groups to share your perspective is equally important in guiding clinical research activities. 

1. Pastores GM, Hughes, D. Gaucher Disease. GeneReviews (online). Accessed April 15, 2021. 
2. Deegan P, Khan A, Camelo JS Jr, et al. The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients. Orphanet J Rare Dis. 2021;16(1):92. 
3. Limgala RP, Goker-Alpan O. Effect of substrate reduction therapy in comparison to enzyme replacement therapy on immune aspects and bone involvement in Gaucher disease. Biomolecules. 2020;10:1-12.
4. Van Rossum A, Holsopple M. Enzyme replacement or substrate reduction? A review of Gaucher disease treatment options. Hosp Pharm. 2016;51:553-563.
5. Wraith JE. J Inherit Metab Dis. 2006;29:442-447.
6. Smid BE, et al. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Orphanet J Rare Dis. 2016;11:28.
7. Copeland FD, Correia LA, White ML. Uncovering the burden of gaucher disease type 1: patient perspectives on unaddressed symptoms, impact of disease, and the future of treatment. Poster presented at: 17th Annual WORLDSymosium 2021; February 8-12, 2021.
8. National Gaucher Foundation. Bone disease: an often-overlooked complication of Gaucher disease. Accessed: March 31, 2021.
9. Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease. Accessed April 15, 2021.
10. US Department of Health and Human Services National Institutes of Health. What are Clinical Trials and Studies? Accessed March 31, 2021. 
11. US National Library of Medicine National Institutes of Health. Accessed March 31, 2021.

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