Synonyms: Acid beta-glucosidase deficiency | Glucocerebrosidase deficiency
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1 2 and 3) a fetal form and a variant with cardiac involvement (Gaucher disease – ophthalmoplegia – cardiovascular calcification or Gaucher-like disease).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version October 2024
Newly diagnosed with
Gaucher disease?
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Advocacy Organizations
Accessia Health
Accessia Health is a national nonprofit 501(c)(3) organization that provides programs and services to individuals of all ages who are living with a rare or chronic health condition. With 80+ disease programs, we offer case management, education, and financial assistance for health insurance premiums, medication copayments, travel, and other medical expenses. We’re focused on addressing unmet needs in healthcare, including paying for important expenses such as diagnostic tests, durable medical equipment, and more. Our holistic, inclusive, outcomes focused approach offers patients comprehensive support throughout their healthcare journey.
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.
Childhood Dementia Initiative
Childhood Dementia Initiative (CDI) is driving world first action in the consideration of the 70+ genetic conditions that cause childhood dementia under the one umbrella.
Emory Lysosomal Storage Disease Center
The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.
Gaucher Community Alliance
The mission of the Gaucher Community Alliance is to help those affected with all types of Gaucher disease live their fullest lives possible. We support patients and their families through peer-to-peer support and education, advocacy, patient and family resources, and networking. We hope to ensure that no families shall face this disease alone.
Help Hope Live
Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.
International Gaucher Alliance
Be the global voice for Gaucher patients & their families; Empower & support its members & the wider Gaucher community to improve patients’ quality of life; Advocate & be a catalyst for change & improvement for patients; Ensure the Gaucher research agenda is focused on unmet needs; Work collectively with the global Gaucher community & other stakeholders to address challenges faced by patients.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
LSD Society Pakistan is a registered Non-Profit organization set up by a group of parents dedicated and committed to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public. The objective of LSD Society is to advocate with the government and other stakeholders to establish a sustainable healthcare system
Lysosomal Storage Disorders Support Society
LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.
MPS Society
The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
National Gaucher Foundation of Canada
To improve the health and wellbeing of Canadian Gaucher patients through education, advocacy, and support of research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.