ICYMI: FDA Approves Expanded Access Application of Experimental Niemann-Pick Type C Drug

According to a press release from CTD Holdings, the American Food and Drug Administration (FDA) recently approved an Expanded Access application from a physician to treat a pediatric Niemann-Pick disease type C patient with a still-experimental therapy.

Trappsol Cyclo is an experimental formulation of hydroxypropyl beta cyclodextrin, which researchers believe might slow the regressive neurological effects characteristic of the condition.

About Niemann-Pick Disease Type C

Niemann-Pick is an inherited condition generally characterized by the body’s inability to effectively transport lipids out of cells. The result is the progressive buildup of the fatty molecules in cells throughout the body, including in vital organs and important tissues.

Niemann-Pick is categorized into several subtypes differentiated in their genetic origins and their typical expressions. Types A and B are caused by a deficiency in functional sphingomyelinase — an enzyme that plays an important role in the metabolization of sphingomyelin that enters cells. Type C, on the other hand, is caused by a different genetic mutation that instead results in the buildup of cellular cholesterol (and sometimes other fats).

Despite being genetically linked, as a progressive condition, patients affected by Niemann-Pick type C may not present symptoms for some time after birth. Cases are highly variable in their aggression and expression — some patients may experience their first symptoms in early childhood, others may not develop noticeable symptoms until adulthood.

The particular symptoms experienced by type C patients can be highly variable as well. Cholesterol and other lipids can build up in the liver, spleen, lungs, and eventually brain; the diversity of potentially affected sites alone poses a significant challenge to healthcare providers. Accordingly, some cases are fatal — particularly severe forms that affect children. Other cases are comparatively mild.

As fats accumulate in important organs and tissues, their ability to function is progressively impaired. When the brain is involved, sensory, motor, and other neurological functions can worsen over time.

Expanded Access Application Approved

The Investigational New Drug (IND) application is an early step on the clinical research path for drug developers. Legally, without first receiving a New Drug Application marketing approval from the FDA, manufacturers are not permitted to transport a product outside the borders of the state in which the product is produced. The IND, however, offers exceptions to this policy for researchers who would hope to conduct trials of investigational agents at research sites outside their home state. Trappsol Cyclo received its IND approval back in 2016.

The still-investigational drug will be made available to some non-trial patients on an Expanded Access basis. One pediatric patient has already been approved for such Expanded Access, which can speed the clinical research of still investigational drugs while (hopefully) limiting disease activity in patients.


Currently, there is no approved drug therapy for Niemann-Pick Type C in the United States. What do you think of this development? Do you think it’s important for researchers to conduct trials at diverse sites? Share your thoughts with Patient Worthy!

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