Just after her second birthday, additional testing, including an MRI of her brain and spine followed by a genetic analysis, revealed that our daughter had metachromatic leukodystrophy. This lysosomal storage disorder is an autosomal recessive genetic disease that interferes with the body’s production of a single enzyme, arylsulfatase A.
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Shire Pharmaceuticals has developed a therapy for the disease and has even found a way to deliver it across the blood-brain barrier, which is no mean feat. The company has even completed a multicenter Phase 1/2 trial of the drug, called SHP-611.
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It meant that Radha should qualify for what the Food and Drug Administration calls its expanded access program, also known as compassionate use. It governs the use of an investigational medicine that has not been approved by the FDA outside of a clinical trial.
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Radha’s physicians followed Shire’s protocol for applying for compassionate use exactly as directed on the company’s website. Within a day or two, their request was denied, without any legitimate medical reason given.
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Many [companies] refuse to grant access to investigational drugs outside of clinical trials, and efforts to lobby them to release the medication as part of compassionate use are often rebuffed.
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From Radha’s perspective, they are nothing more than a cruel joke, dangling a potential lifesaving therapy just out of her reach.
Read full, original post: The ‘cruel joke’ of compassionate use and right to try: Pharma companies don’t have to comply
