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Abstract Details

Long-Term 30-Month Results of N-Acetyl-L-Leucine for Niemann-Pick Disease Type C
General Neurology
P11 - Poster Session 11 (11:45 AM-12:45 PM)
7-003

To evaluate the long-term effects of N-acetyl-L-leucine (NALL) in people with Niemann-Pick disease type C (NPC).

NPC is a rare autosomal recessive neurodegenerative lysosomal storage disorder. IB1001-301 is a Phase 3, double-blind, randomized, placebo-controlled, crossover trial evaluating NALL for the treatment of neurological signs and symptoms in NPC encompassing a Parent Study and open-label Extension Phase (EP). The global primary endpoint of the Parent Study, the Scale for the Assessment and Rating of Ataxia (SARA), was reduced -1.97 points with NALL and -0.60 with placebo (P<0.001) after 12 weeks. Following the Parent Study, extended follow-up data were obtained to evaluate the long-term effects of NALL for NPC.
Participants received treatment with orally administered NALL 2-3 times per day (participants 4-12 years receiving weight-based doses [2-4 g per day]; those ≥ 13 years 4 g per day). The primary endpoint of the EP is the modified 5-domain NPC Clinical Severity Scale (NPC-CSS, range 0-25). Comparisons were made to the expected annual trajectory of disease decline established in published natural history studies (henceforth referred to as the historical cohort). Exploratory endpoints included the 15-domain NPC-CSS (excluding hearing) and SARA.

Fifty-four participants aged 5 to 67 years were treated in the EP. The interim 24-month mean (±SD) change from baseline on the 5-domain NPC-CSS was -0.32 (±2.66) on NALL, i.e., improvement, compared to 3.0 (±6.32) in the historical cohort: mean difference -3.32. Results of the 15-domain NPC-CSS were supportive of the primary analysis and improvements in neurological status as measured by SARA were sustained over the 24-month follow-up. No drug-related TEAEs, SAEs, or deaths occurred during the study. Long-term 30-month data will be presented at the 2026 好色先生 pending data availability.

Long-term 24-month treatment with NALL has demonstrated statistically significant and clinically meaningful reduction in disease progression. 
Authors/Disclosures
Michael Strupp, MD, DO, FAAN (Hospital of the Ludwig Maximilians University, Munich, Dept of Neurology)
PRESENTER 		Dr. Strupp has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertify. Dr. Strupp has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for IntraBio. Dr. Strupp has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vifor, Frisenius, CH. Dr. Strupp has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer. Dr. Strupp has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Frontiers. Dr. Strupp has stock in IntraBio.
Marc C. Patterson, MD, FRACP, FAAN Dr. Patterson has received personal compensation for serving as an employee of IntraBio. The institution of Dr. Patterson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Orphazyme /KemPharm/Zevra. Dr. Patterson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Azafaros. Dr. Patterson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for IntraBio. Dr. Patterson has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Sage. Dr. Patterson has or had stock in IntraBio. The institution of Dr. Patterson has received research support from Glycomine. The institution of Dr. Patterson has received research support from Orphazyme /KemPharm/Zevra. The institution of Dr. Patterson has received research support from Idorsia. The institution of Dr. Patterson has received research support from Shire-Takeda. Dr. Patterson has received publishing royalties from a publication relating to health care. Dr. Patterson has received publishing royalties from a publication relating to health care.
Bethany Zanrucha (Sarepta Therapeutics) Bethany Zanrucha has stock in IntraBio. Bethany Zanrucha has stock in Sarepta.
Janelle Raymond, PhD (Work) Dr. Schafer has received personal compensation for serving as an employee of IntraBio. Dr. Schafer has stock in Amylyx Pharmaceuticals .
Asante Hatcher, PhD (Mitsubishi Tanabe Pharma America) Dr. Hatcher has received personal compensation for serving as an employee of IntraBio. Dr. Hatcher has stock in IntraBio.
Jorgji Kerthi, PharmD Dr. Kerthi has received personal compensation for serving as an employee of IntraBio, Inc. Dr. Kerthi has received personal compensation for serving as an employee of Amylyx Pharmaceuticals, Inc. Dr. Kerthi has stock in IntraBio, Inc. Dr. Kerthi has stock in Amylyx Pharmaceuticals, Inc.
Taylor Fields (IntraBio) Taylor Fields has received personal compensation for serving as an employee of IntraBio Inc. Taylor Fields has stock in IntraBio. Taylor Fields has received intellectual property interests from a discovery or technology relating to health care.
Ian Billington, PhD Mr. Billington has received personal compensation for serving as an employee of IntraBio Inc. Mr. Billington has stock in IntraBio Inc.
Tatiana T. Bremova-Ertl, MD, PhD (University Hospital Inselspital Bern) Dr. Bremova-Ertl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Intrabio. The institution of Dr. Bremova-Ertl has received research support from InnoSuisse. Dr. Bremova-Ertl has received research support from Baasch-Medicus.