Xplore RARE-X

Gathering Data to Ensure Patient Perspective is Understood

In the 1980s, researchers completed the first natural history study of classical homocystinuria, when Danae Bartke was born with the condition.

Homocystinuria is not a single condition, but rather a group of inherited metabolic disorders. It causes an elevation of the amino acid homocysteine, a building block of protein. In the absence of being able to properly break down the protein, fragments accumulate in the body and can affect the skeletal, vascular, and central nervous systems, as well as the eyes.

Bartke, executive director and co-founder of HCU Network America, a patient organization focused on homocystinuria and related conditions, said when potential symptoms arise patients may not know whether it is due to their rare disease because the condition is not well understood.

“As a patient community,” said Bartke, “we always wonder, is it the condition or is it something more?”

HCU Network America and the HCU Network Australia are collaborating in the launch of a data collection program on the RARE-X platform to gather patient information about the condition.

Bartke said since her organization’s founding, she hoped to create a registry, but didn’t have the resources or expertise to do so. That changed when she met with RARE-X.

She said while her organization had looked at other data platforms, including ones run by other nonprofit organizations, they required too much manpower and financial backing to create and maintain, particularly for a small patient community like HCU.

“With RARE-X, we love that the data does not exist in silos, that it’s accessible, and also that patients have the power to say who has access to that information,” she said. “It’s important to have platforms that allow patients to make those decisions for themselves, not someone else who doesn’t know that patient directly making those decisions for them.”

She said while there has been ongoing research in the field, what’s been missing is the patient voice in a lot of the research. The data that’s been available, she said, covers a narrow perspective, looking at the disease in distinct areas of its effect, such as studies that explore the ophthalmic, central nervous system, skeletal, and vascular impact of the disease. Bartke said while many patients are aware of these manifestations of the disease, many aspects of the condition and its impact on other organ systems aren’t captured in the literature.

For instance, most patients with classical homocystinuria must rely on restrictive diets that are low in protein and supplemented with unappetizing medical foods because of the condition. It is burdensome to adhere to the regime.

“If that burden could be alleviated even partially, patients would be willing to overlook daily injections with a new therapy, if it means they could eat whatever they wanted to eat,” said Bartke. “Patients in the past have not really had much of a voice in clinical trial outcomes. This is a way for our data to actually reflect those important outcomes and what they need to be looking at.”

HCU Network America and HCU Network Australia have been working with RARE-X to ensure the survey questions being used in the data collection effort reflect the homocystinuria patient community’s needs. They are now reaching out to members of the community to participate in the effort as it launches.

“Better understanding of the homocystinurias could lead to improvements in health outcomes for individuals living with one of the disorders. I urge members of the homocystinuria community to register and participate in the data collection program. Together we can advance research to accelerate the discovery of new treatments and cures for the homocystinurias,” said  Tara Morrison BA LLB, director and chair of HCU Network Australia.

The RARE-X HCU data collection portal is supported by Travere Therapeutics, a biopharmaceutical company dedicated to identifying, developing and delivering life-changing therapies to people living with rare disease. Travere is currently conducting early-stage development of a potential disease-modifying therapy for classical HCU.


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