Compiling data, especially rare disease data, can be extremely helpful for research purposes and for doctors treating patients with that condition. Recently, the International Gaucher Alliance and Cerner Enviza have teamed up to create a registry for Gaucher disease patients. Called the Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease (Guardian) registry, it will collect data from patients and their caregivers.
About the Guardian Registry
This registry will collect both retrospective and prospective clinical and health outcome data from patients with Type 2 and 3 Gaucher disease. When it comes to pediatric patients – alongside a few adult patients – their caregivers will provide insight. They’ll also speak to their own experiences.
Aparito’s mobile and web platform will be utilized to gather data, which gathers eConsent. To explain this a little more, it collects numerous, high-frequency data points from voice, video, wearables, and electronic patient-reported outcomes.
In terms of the partnership itself, the patient community will own the registry, but Cerner Enviza will lead it. Its overall goal is to quicken discovery and development of insights and treatments for Gaucher disease.
Looking Forward
In the end, the goal is to provide a better understanding of Gaucher disease’s natural history in order to quicken the time to diagnosis and intervention. This will stand to improve patients’ quality of life. An additional benefit is the information and insight the registry provides to those designing clinical trials.
About Gaucher Disease
Gaucher disease is a lysosomal storage disorder. The enzyme beta-glucocerebrosidase has extremely low or no activity, and it leads to the accumulation of a lipid called glucocerebroside. This buildup causes damage to the tissue and organs. The GBA gene is mutated in those who have this disease, and it is responsible for the production of beta-glucocerebrosidase. It is passed down in an autosomal recessive pattern, meaning a child must inherit the mutated version of the gene from both parents. The incidence of the general population is one of every 60,000 people, but it is more common within the Ashkenazi Jewish population.
Gaucher disease comes in multiple different types, which vary in symptoms and severity. Type I is characterized by an enlarged liver or spleen, anemia, easy bruising, and various bone issues like pain, fracturing, and arthritis. Lung disease is a less common symptom of this type. Types II and III affect the central nervous system (CNS), and they present all of the symptoms of type I. Along with these effects, those with types II and III may also experience unusual eye movements, seizures, and brain damage. Type II is the most severe of the three, as it progresses rapidly and is fatal. While many symptoms are present in all types, it is important to remember that different individuals present various symptoms with differing severity.
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