Poster: Survival outcomes by baseline disease burden in participants with infantile-onset Niemann-Pick disease type C treated with adrabetadex

Citation: Berry-Kravis E, et al. Survival outcomes by baseline disease burden in participants with infantile-onset Niemann-Pick disease type C treated with adrabetadex. Poster presented at: National Niemann-Pick Disease Foundation (NNPDF) Family and Medical Conference; July 2026.

Plain Language Summary: Results of an analysis looking at how long children with infantile-onset Niemann-Pick Disease Type C (I-NPC) lived after starting intrathecal adrabetadex (formerly VTS-270, cyclodextrin), depending on how advanced their disease was when the investigational treatment began.

What is this study about?

Children with I-NPC lose important abilities over time as the disease progresses. This study looked at whether starting adrabetadex earlier, before the disease becomes more advanced, is associated with longer survival. In NPC, cells cannot move cholesterol properly. As cholesterol builds up inside cells, it damages the brain and other organs, causing children to gradually lose important abilities such as walking, speaking, and swallowing. Every child's experience is different, but the disease always gets worse over time. I-NPC, where neurological symptoms begin before age 6, progresses much more rapidly and leads to more severe decline and shorter survival than later-onset forms of NPC. 

How does adrabetadex work?

Adrabetadex is given by lumbar puncture (injection into the spinal fluid, also known as an intrathecal injection). Adrabetadex helps restore the normal movement of cholesterol inside cells, addressing the underlying biological problem that causes NPC. It is the only investigational treatment specifically studied and shown to improve survival in both the early and late infantile-onset forms of NPC. Adrabetadex is investigational, meaning it is still being studied and has not been approved by the U.S. Food and Drug Administration (FDA).

Who participated? This study included 76 children with I-NPC who were treated with adrabetadex in clinical studies or the Expanded Access Program (EAP), some for nearly as long as 11 years. The EAP allows patients with serious conditions to receive investigational treatments outside of a formal clinical trial. 

What did this study do? 

• They measured how advanced each child’s symptoms were when treatment began, using a 20-point scale that rates four everyday abilities: walking, coordinating hand movements, speech, and swallowing. Children were grouped according to how much difficulty they already had with these abilities when treatment began. 
• They divided the children into three groups based on their score at the start of treatment: those with the least difficulty (low: ≤4), a middle group (medium: 5-9), and those with the most difficulty (high: 10 and above). 
• They then tracked how long children in each group survived after starting adrabetadex treatment.

What the study found:

• Children treated earlier, before their symptoms became more advanced, generally lived longer after starting adrabetadex.
• 100% of children in the low group, 82% in the medium group, and 71% in the high group were still alive after five years on adrabetadex.
• All three groups showed improved survival compared to what would be expected based on published natural history data for untreated children with I-NPC; with five-year survival exceeding 70% across all groups, compared to approximately 42% reported in the untreated historical populations. This suggests adrabetadex is providing meaningful benefit regardless of when treatment begins.

Why does this matter?

For families, every month matters. These findings suggest that starting treatment before the disease becomes more advanced may give children the best chance for longer survival. They also highlight why recognizing NPC early and making a diagnosis as soon as possible is so important.

What this means for patients:

Children who started adrabetadex before their symptoms became more advanced generally had better survival outcomes than those who started later. While children at every stage appeared to benefit compared with previously published untreated populations, these findings reinforce the importance of early diagnosis and prompt treatment whenever possible.

What this means for families:

 Earlier diagnosis gives families more time to understand the disease, consider treatment options, and begin therapy before more neurological abilities are lost.