Overview
Gaucher disease type 1 (also called non-neuronopathic Gaucher disease or adult Gaucher disease) is the most common form of Gaucher disease, a rare inherited condition where the body cannot properly break down a fatty substance called glucocerebroside. This happens because an enzyme called glucocerebrosidase does not work correctly. As a result, this fatty material builds up inside cells, especially in the liver, spleen, and bone marrow. The most noticeable effects include a very enlarged spleen and liver, low blood counts (which can cause anemia, easy bruising, and frequent infections), and bone problems such as pain, fractures, and a condition called avascular necrosis where bone tissue dies from lack of blood supply. Unlike types 2 and 3 of Gaucher disease, type 1 does not directly affect the brain or nervous system. The good news is that type 1 Gaucher disease has effective treatments available. Enzyme replacement therapy (ERT) — given as regular infusions — is the main treatment and can dramatically reduce symptoms and prevent complications. A pill-based option called substrate reduction therapy is also available for some patients. With proper treatment and monitoring, many people with Gaucher disease type 1 live full, active lives.
Also known as:
Key symptoms:
Enlarged spleen (splenomegaly), which can cause abdominal fullness or discomfortEnlarged liver (hepatomegaly)Anemia — low red blood cells causing tiredness and weaknessLow platelet count leading to easy bruising and prolonged bleedingFrequent infections due to low white blood cell countsBone pain, especially in the legs and hipsBone fractures that happen more easily than expectedAvascular necrosis — bone tissue death from poor blood supply, often in the hipFatigue and low energyDelayed growth or puberty in childrenLung problems in some patients (less common)Increased risk of a type of blood cancer called multiple myeloma or other blood disorders over time
Clinical phenotype terms (49)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsLingyi Biotech Co., Ltd. — PHASE1
Genzyme, a Sanofi Company — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Gaucher disease type 1.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Gaucher disease type 1.
Community
No community posts yet. Be the first to share your experience with Gaucher disease type 1.
Start the conversation →Latest news about Gaucher disease type 1
Disease timeline:
New trial: Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglusta
Phase PHASE2 trial recruiting. venglustat (GZ402671)
New trial: A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher
Phase PHASE1 trial recruiting. LY-M001
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which treatment option is best for me or my child, and why — enzyme replacement therapy or substrate reduction therapy?,How often will I need infusions or medication, and what does that schedule look like long-term?,What monitoring tests will I need regularly, and how often should I see a specialist?,Are my family members at risk, and should they be tested for the GBA1 gene mutation?,What bone complications should I watch for, and are there activities I should avoid?,Is there an increased risk of Parkinson's disease or cancer, and how will that be monitored?,Are there any clinical trials or new treatments I should know about?
Common questions about Gaucher disease type 1
What is Gaucher disease type 1?
Gaucher disease type 1 (also called non-neuronopathic Gaucher disease or adult Gaucher disease) is the most common form of Gaucher disease, a rare inherited condition where the body cannot properly break down a fatty substance called glucocerebroside. This happens because an enzyme called glucocerebrosidase does not work correctly. As a result, this fatty material builds up inside cells, especially in the liver, spleen, and bone marrow. The most noticeable effects include a very enlarged spleen and liver, low blood counts (which can cause anemia, easy bruising, and frequent infections), and b
How is Gaucher disease type 1 inherited?
Gaucher disease type 1 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Gaucher disease type 1?
Yes — 2 recruiting clinical trials are currently listed for Gaucher disease type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Gaucher disease type 1?
10 specialists and care centers treating Gaucher disease type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.