Research & Development
At Orphalan we identify, develop and provide access to innovative treatments for patients with rare diseases.
Developing new treatments and new formulations
Our research and development team is committed to addressing the unmet needs of patients with rare diseases. Sometimes, this means developing better options to existing treatments.
One of the key challenges facing Wilson disease patients is maintaining adherence to their daily treatment. Several challenging factors have been shown to influence adherence to treatment, including multiple daily dosing regimens, the impact of mealtimes on dosing schedules, pill burden (number & size), portability/convenience, and the occurrence of adverse reactions.
Due to these challenging factors, only about 20% of Wilson disease patients appear to exhibit high levels of adherence, with a third of patients reporting low treatment adherence. The consequences of not receiving adequate treatment can be serious, and evidence indicates that patients with low levels of adherence can experience significant disease progression.
Our ongoing formulation studies are aimed at finding solutions to the challenges patients experience with all current treatment options, including a requirement to administer treatment multiple times daily, along with the significant inconvenience of scheduling meals to avoid interfering with dosing schedules.
Developing a new assay to measure treatment effectiveness
Copper is an essential dietary element, usually bound tightly in blood to a protein called ceruloplasmin. In Wilson Disease, the inability to remove excess copper, arising from dietary copper, leads to ‘free’ copper or non-ceruloplasmin copper (NCC) in the blood. It is this ‘free’ copper that has the potential to be toxic when deposited in different tissues.
Critically, there are no validated tests readily available to measure NCC, making it difficult to guide or assess appropriate treatment effectiveness in patients. As part of the pivotal Phase 3 CHELATE trial, Orphalan was asked by the FDA to develop a new assay for NCC. We are now working to make this reliable and reproducible assay widely available to healthcare professionals.
Learn more about the Wilson's Disease Registry
The Wilson's Disease Registry is a secure centralised database which records health data on consenting people with Wilson's Disease (WD) throughout the world.
The collection of accurate de-identified data will be used for patient benefit through a systematic collection of core data outcomes, assessed to be clinically important for physicians and patients by a dedicated scientific advisory board including a patient representative.
