A charitable program can help people with lysosomal storage disorders, such as Fabry disease, who live in underserved communities worldwide gain access to essential treatments, a study reports.
The study, “A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide,” was published in the Orphanet Journal of Rare Diseases.
Lysosomal storage disorders are a group of conditions caused by problems with lysosomes due to missing enzymes. As lysosomes are important for breaking down cellular waste, these disorders are characterized by the toxic buildup of different molecules in cells.
For Fabry and other lysosomal storage disorders, treatments like enzyme-replacement therapy (ERT) — which aims to replace the missing lysosomal enzymes — can substantially improve health. However, access to such therapies can be limited in many parts of the world.
A charitable access program for people with these disorders was started by Shire, now owned by Takeda, in 2012. (Shire developed Replagal, an ERT for Fabry; it is approved in many countries though not the U.S.)
Researchers with Shire and at institutions in countries that include Brazil, Switzerland, the U.K., and the U.S. outlined the charitable access program’s goals, and reported data on outcomes for patients being treated through it. Their study was funded by Takeda.
“Working collaboratively with several dedicated stakeholders, the Takeda LSD [lysosomal storage disorder] charitable access program has provided a holistic approach to patient care, in part by providing stable and continuous access to ERT for patients in underserved communities,” the researchers wrote.
Broadly, the program’s aim is to provide treatments like ERTs, as well as other healthcare-oriented support, to people with lysosomal storage disorders living in places with limited access to such treatments. Takeda donates ERTs to nonprofit organizations, which in turn distribute them to those in need. The program also offers education for treating physicians.
A total of 236 patients have enrolled in the program since its inception; of them, 199 were active as of August 2019. Common reasons for discontinuing the program included switching to other ERT products that became locally available, and poor compliance (not using a treatment as prescribed).
These 199 patients live in 13 countries: Paraguay, Egypt, Tunisia, Morocco, Albania, Bosnia, Belarus, Jordan, Sudan, the Palestinian Territories, Tanzania, India, and Pakistan.
Of them, 16 have Fabry disease, 142 have Gaucher disease, and 41 have Hunter syndrome.
Most (78.9%) patients have been in the program for more than a year, and 88 (44.2%) have been enrolled for three years or more.
“A considerable proportion [of patients] have been enrolled for [at least] 3 years, demonstrating the long-term local sustainability of the program,” the researchers wrote.
Researchers noted the comparatively few individuals with Fabry disease in the program relative to the other conditions. They speculated that this could be due to difficulties in getting a correct diagnosis for this disorder.
“Increased FD [Fabry disease] awareness and accurate diagnosis are urgently needed to support undiagnosed and misdiagnosed patients, and educational awareness programs to aid diagnosis are a core part of the [charitable access] program,” the researchers wrote.
“This could be achieved through continued efforts to raise disease awareness, diagnostic support, infrastructure development, local public health prioritization, and access to treatment,” they added.
Follow-up data were available for 155 of 165 (93.9%) people expected to have this data. For most, 147 patients, the treating physician reported improvements in their health over the previous year. This included 12 of 14 Fabry patients with available data.
“Our follow-up data indicate improvements in patients’ clinical condition for a large majority of patients,” the researchers wrote.
“Our early experience with this LSD charitable access program suggests that such programs can make a positive impact, allowing clinicians to help patients who previously would have had few or no options available,” they concluded. “Although significantly more work is needed, this program marks one small step of many needed to accomplish the goal of ‘leave no one [with rare diseases] behind.'”
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