In mid-April, Kantar Health and the International Gaucher Alliance (IGA) shared the launch of a rare disease registry developed by the partnership. The registry, known as GARDIAN, will explore Gaucher disease types 2 and 3, also known as neuronopathic Gaucher disease (nGD). Overall, the conditions are neuronopathic as they impact the central nervous system (CNS). Although some treatment options exist for patients with Gaucher disease, these treatment options fail to consider the neurological impact of patients with nGD. As a result, the GARDIAN registry will hope to learn about patient experiences; nGD natural history; caregiver experiences; and potential research centered in this field.
The GARDIAN registry was developed to raise awareness for nGD. Beyond understanding the natural history of nGD, the Registry seeks to determine how types 2 and 3 Gaucher disease genuinely affect patients, caregivers, and their family members. Through self-reported information, researchers can build outcome scales that can be used in future research.
Additionally, the Registry will provide important information to assist with the diagnostic process. Through early diagnosis, researchers could help to improve the care and quality of life (QOL) for patients with nGD. Ultimately, the GARDIAN Registry will also provide insight that will guide regulatory processes, clinical trial development, and other opportunities to improve care for this patient population.
Altogether, an estimated 1 in 60,000 people has Gaucher disease, a rare lysosomal storage disorder. GBA gene mutations cause this condition. Through these mutations, the body fails to produce enough (or any) beta-glucocerebrosidase, a type of enzyme which helps break down glucocerebroside into smaller molecules. When glucocerebroside builds up in cells, it can cause a variety of health issues, as well as both organ and tissue damage. Because Gaucher disease is inherited in an autosomal recessive pattern, patients must inherit one defective gene from each parent. Those with Ashkenazi Jewish heritage are more likely to have Gaucher disease.
There are multiple types of Gaucher disease, and each type may present its own symptoms. Type 1 Gaucher disease is the most common form. It is also considered non-neuronopathic, as the central nervous system (CNS) is not affected. Symptoms may range in severity and include:
- Easy bruising and bleeding
- Spleen and liver enlargement
- Anemia (low red blood cell count)
- Thrombocytopenia (low platelet count)
- Chronic fatigue
- Bone pain and fracturing
- Lung disease
nGD Forms Being Explored in the GARDIAN Registry
Both Type 2 and Type 3 Gaucher disease are known as neuronopathic, as they affect the CNS. In patients with type 2 Gaucher disease, symptoms progress rapidly in infancy. Unfortunately, this form of nGD is also often fatal in infancy. For patients with type 3 Gaucher disease, symptom onset often occurs in childhood, and neurological symptoms are slower to progress. Outside of the symptoms associated with type 1, patients with nGD also experience:
- Unusual eye movements
- Poor coordination
- Brain damage
- Poor development
- Muscle spasticity
- Skeletal irregularities
- Aspiration pneumonia
Perinatal Gaucher Disease
Finally, outside of the three subtypes above, there is also a perinatal form of Gaucher disease. This fetal form affects accounts for less than 5% of Gaucher disease diagnoses. Overall, those with perinatal Gaucher disease often do not live through birth or, if they do, past 3 months of life. Symptoms and characteristics include:
- Intracranial hemorrhage (bleeding in the skull)
- Widespread swelling of the skin
- Hydrops fetalis (fluid accumulation in the skin, heart, or lungs)
- Ichtyosis (red, scaly skin)
- Joint contractures
- Spleen and liver enlargement
Learn more about Gaucher disease.