Overview
Gaucher disease type 3 (also called chronic neuronopathic Gaucher disease or type 3 Gaucher disease) is 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, bone marrow, and brain. Gaucher disease has three main types, and type 3 is unique because it affects both the body and the nervous system, though more slowly than type 2. People with Gaucher disease type 3 often have an enlarged liver and spleen, bone pain, anemia, and low platelet counts that can cause easy bruising or bleeding. The nervous system problems — which set type 3 apart — can include abnormal eye movements, seizures, difficulty with coordination, and in some cases, gradual decline in thinking and learning abilities. Symptoms usually begin in childhood but can vary widely from person to person. Treatment has improved greatly over the past few decades. Enzyme replacement therapy (ERT) — using medicines like imiglucerase, velaglucerase alfa, or taliglucerase alfa — can effectively treat the body-related symptoms. Substrate reduction therapy (SRT) with eliglustat or miglustat is another option for some patients. However, these treatments do not fully reach the brain, so the neurological symptoms remain harder to treat. Research into better therapies for the brain-related aspects of this disease is ongoing.
Also known as:
Key symptoms:
Enlarged spleen (splenomegaly) causing abdominal fullness or discomfortEnlarged liver (hepatomegaly)Anemia causing tiredness and pale skinLow platelet counts leading to easy bruising or bleedingBone pain and increased risk of fracturesAbnormal horizontal eye movements (oculomotor apraxia)SeizuresProblems with coordination and balance (ataxia)Muscle stiffness or spasticitySlowed thinking or learning difficultiesDelayed growth and development in childrenDifficulty swallowing in some casesFatigue and low energy
Clinical phenotype terms (40)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
6 eventsAgyany Pharma LTD — NA
Noha Osman — NA
He Huang — NA
University of Minnesota — NA
Sanofi — PHASE3
Cambridge University Hospitals NHS Foundation Trust — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Gaucher disease type 3.
6 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
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Treatment Centers
8 centersUniversity of Minnesota
📍 Minneapolis, Minnesota
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 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
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Gaucher disease type 3.
Community
No community posts yet. Be the first to share your experience with Gaucher disease type 3.
Start the conversation →Latest news about Gaucher disease type 3
Disease timeline:
New trial: MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
Phase NA trial recruiting. No intervention
New trial: Gaucherite - A Study to Stratify Gaucher Disease
Phase NA trial recruiting. Stratified response to Enzyme Therapy
New trial: Effect of Enzyme Replacement Therapy on Cardiac Function in Children With Gaucher Disease Type 3
Phase NA trial recruiting. echo
New trial: High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
Phase NA trial recruiting. Ambroxol
New trial: Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher
Phase PHASE3 trial recruiting. Venglustat
New trial: A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patien
Phase NA trial recruiting. LY-M001 Injection
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 specific GBA1 mutations does my child or I have, and what does that mean for how the disease will progress?,Which enzyme replacement therapy is recommended for us, and how often will infusions be needed?,How will you monitor the neurological symptoms over time, and what signs should prompt us to contact you urgently?,Are there any clinical trials for treatments that target the brain symptoms of Gaucher type 3 that we could join?,What support services — such as physiotherapy, educational support, or psychological counseling — should we be accessing?,Should other family members be tested for the GBA1 gene mutation?,What is the long-term plan for managing this condition as my child grows into adulthood?
Common questions about Gaucher disease type 3
What is Gaucher disease type 3?
Gaucher disease type 3 (also called chronic neuronopathic Gaucher disease or type 3 Gaucher disease) is 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, bone marrow, and brain. Gaucher disease has three main types, and type 3 is unique because it affects both the body and the nervous system, though more slowly than type 2. People with Gaucher disease type 3 ofte
How is Gaucher disease type 3 inherited?
Gaucher disease type 3 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Gaucher disease type 3 typically begin?
Typical onset of Gaucher disease type 3 is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Gaucher disease type 3?
Yes — 6 recruiting clinical trials are currently listed for Gaucher disease type 3 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 3?
14 specialists and care centers treating Gaucher disease type 3 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.