Rare diseases present compelling but incredibly challenging opportunities for Life Sciences companies. On the one hand, government funding through the Orphan Drug Act — which incentivizes pharmaceutical companies to develop treatments for rare diseases — and significant advances in gene therapies and other technological innovations have made it possible to treat formerly untreatable conditions. On the other hand, it can be next to impossible to find eligible patients for clinical trials, conduct accurate health economic and outcomes research, and engage with providers who may see only a handful of these conditions over the course of their careers.

Rare Disease Snapshot: Hunter Syndrome
Take, for example, mucopolysaccharidosis type II, better known as Hunter syndrome, a progressive and life-threatening genetic disorder that primarily affects young males. The syndrome causes undigested sugar molecules to build up in the body, leading to organ damage and breathing problems. It occurs in about 1 in 100,000 to 170,000 births annually and shows no signs or symptoms at birth. At about two years old, however, a wide spectrum of symptoms develop, including corneal clouding, frequent upper respiratory problems, and changes in facial features. Those with untreated Hunter syndrome are expected to live just 10 to 20 years.

Due to the often complex progression of symptoms, the average amount of time between the appearance of symptoms and the final diagnosis is 4.8 years. During this time, patients are typically examined by 4.7 different specialists and undergo multiple procedures to address underlying symptoms. 

Consider that scenario from the perspective of a Life Sciences team working on a therapy to treat Hunter syndrome. The window of opportunity for a drug to make a meaningful difference is tiny. View it through the eyes of that child’s parents, however, and it’s clear why this type of rare-disease drug development work is so critical.

A New Approach to Provider Engagement
This was the scenario for Steve Davenport, Senior Director of Commercial Data Strategy and Management, and his team at Takeda. Charged with engaging providers on a new therapy they had developed to treat Hunter syndrome, Davenport and his team turned to data science. Working with Komodo, commercial partners, and Takeda’s data science team, the group was able to model the pattern of symptoms and diagnoses consistent with a Hunter diagnosis in real-world data. From there, the group was able to identify individual patients who would be eligible for additional testing to confirm a diagnosis.

“The results came back far earlier than they would have if a patient had gone through the long diagnostic process that typically accompanies this disease,” Davenport shared at Komodo’s One Day Summit last year. “It just moved everybody in the organization. It’s this kind of thing that really keeps me going. Discussions about the commercial side of the business are typically focused on incentives and compensation. This example introduces a different way of thinking about the potential of tying commercial strategy to real-world results and really improving outcomes for people who really need it.”

Examples like this are playing out every day across the rare disease landscape as the use of real-world evidence and sophisticated data-modeling software make it possible to dissect patient journey patterns that are consistent with the footprints of rare diseases. Whether that data is used to identify eligible patients for a clinical trial, inform outreach to treating physicians, or analyze potential market impacts, it is changing the way Life Sciences teams think about rare diseases and get treatments into the hands of patients faster. 

Get more information about how Komodo is helping to address the needs of rare disease patients.

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