FDA Approves Drug for a Rare Disease Due Resulting from Phase I/II Clinical Trial

The drug, Ceriliponase alfa from BioMarin, helped in a condition that has led inexorably to disability and death: Batten Disease – specifically CLN2.

Families of kids facing this prognosis are willing to tolerate more risk. Families and advocacy organizations helped provide the natural history data that served as the control group for this study.

Julie Beitz MD of the FDA stated: “The FDA is committed to approving new an innovative therapies for patients with rare diseases, particularly where there are no approved treatment options.“

This is the third in a series of new FDA approvals for conditions, which up until now, had no treatment at all: Nusinersen, for Spinal Muscular Atrophy (Biogen) and Eteplirsen for Duchene Muscular Dystrophy (Sarepta).

Batten Disease is one of many neurodegenerative diseases. Many of them involve the abnormal accumulation of protein’s that are not being broken down, affecting the very vulnerable neurons of the brain. We see this not only in rare disease, but in much more common diseases such as Alzheimer Disease, familial Parkinson’s, Lewy Body dementia, as well as in some lysosomal storage diseases. Often an enzyme is lacking or not functioning properly, so research on rare diseases helps with all of these conditions.

Who helped make this happen? Batten Disease takes several forms and two family organizations who specifically supported CLN2 are Noah’s Hope and Hope 4 Bridget.

In addition, the Batten Disease Foundation Support and Research Organization, who supports all forms of Batten, was instrumental in support and research initiatives. Check them out at BDSRA.org. They will have a national conference which welcomes all families July 6-9 in Pittsburgh. Can’t afford to travel? Travel stipends are available, too.

There is also the Charlotte and Gwenyth Gray Foundation, who also supported research efforts. Their two daughters have CKN6 and they have been instrumental in pioneering gene therapy for another form of Batten. Read about their progress at www.curebatten.org.

Lastly, we have the Beyond Batten Disease Foundation who works on yet another type of Batten: CLN3. Watch their video “Beyond the Valley of Death” at www.beyondbatten.org/research.

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