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Niemann-Pick disease is described in the packet as a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. Listed synonyms include sphingomyelin lipidosis and lipoid histiocytosis. The packet lists four related entries: acid sphingomyelinase deficiency, chronic neurovisceral acid sphingomyelinase deficiency, Niemann-Pick disease type C and Niemann-Pick disease type E. Gene, onset and prevalence fields are not populated in this packet.
Clinical Presentation
No phenotype annotations are supplied in this packet, so specific symptoms are not described here.
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
The packet's definition describes the condition as inherited and as involving sphingomyelin accumulation in lysosomes. The packet supplies no gene list, no inheritance pattern and no molecular mechanism, so these are unknown in this packet.
Diagnosis
The packet supplies no diagnostic information for this condition.
Treatment
The packet supplies no approved treatment records, orphan drug records or management guidance for this condition, so treatment information is not available in this packet.
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
The packet lists eight active clinical trial records, seven of which have details supplied. NCT00344331, sponsored by the NICHD and recruiting since 2006-08-14, is titled as an evaluation of biochemical markers and clinical investigation of Niemann-Pick disease type C. NCT05588167, also sponsored by the NICHD and recruiting, is titled as establishment of a genomic and phenotypic database for Niemann-Pick disease type C. NCT05163288 is a phase 3 study, sponsored by IntraBio Inc and recruiting, titled as a pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type C, with dates from 2022-06-30 to 2030-12-01. NCT06192576, sponsored by Sanofi and recruiting, is titled as a real-world long-term safety and immunogenicity study of olipudase alfa therapy in pediatric patients under 2 years of age with acid sphingomyelinase deficiency. The remaining records are broader studies: Early Check expanded newborn screening (NCT03655223), retinal hyperspectral imaging in neurodegenerative diseases (NCT07545473) and a longitudinal study of neurodegenerative disorders (NCT03333200). The packet lists the National Niemann-Pick Disease Foundation as a patient organization. Its research digest classifies 223 publications, mostly basic science and preclinical work.
Data assembled from 3 of 12 sources · Last updated Nov 5, 2026, 3:12 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
→Are any of the 11 active clinical trials a good fit for my situation?
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→How can I connect with National Niemann-Pick Disease Foundation (NNPDF) and other patient organizations for support?
FAQ
Frequently Asked Questions
Common questions about Niemann-Pick disease
Niemann-Pick disease is a group of inherited, severe metabolic disorders in which sphingomyelin, a type of fat, accumulates in the lysosomes within cells. Lysosomes are parts of cells that help transport material in and out, and this build-up can interfere with normal cell functions.
People with this disease experience problems because the abnormal build-up disrupts the normal process of breaking down and moving cellular material. This definition emphasizes the metabolic and inherited nature of the condition and helps explain why the cells cannot effectively remove sphingomyelin.
Information about symptoms is currently limited for this condition.
Niemann-Pick disease is known to be inherited, meaning that it is passed from parents to children through genes. The condition occurs because of an enzyme deficiency that leads to the accumulation of sphingomyelin in the cell's lysosomes. However, detailed information about the specific genetic causes or risk factors is currently limited.
With its acquisition of IntraBio, Shionogi will gain ownership over Aqneursa, which could hit peak global sales of $1 billion across its two indications in Niemann-Pick disease type C and ataxia-telangiectasia, according to Jefferies. IntraBio continues to study Aqneursa in other rare diseases, including GM2 gangliosidoses, inherited cerebellar ataxias and CACNA1A-related disorders. The biotech, founded in 2015, is also developing treatments for common disorders like migraine and dementias. Shionogi has moved to acquire commercial-stage IntraBio for $2 billion upfront just weeks after the Texas-based biotech secured an FDA approval in a rare disease for which there are no other treatments. Tristan is BioSpace‘s senior staff writer. Based in Metro Manila, Tristan has more than eight years of experience writing about medicine, biotech and science. Despite a slowdown in Q3, 2026 is still shaping up to be a big year for M&A. Recent standout takeovers include Vertex Pharmaceuticals’ acquisition of Crinetics Pharmaceuticals—a deal originally billed to be worth $10 billion but which has been valued at $8.8 billion by S&P Capital IQ, after taking into account debt and other factors.
With its acquisition of IntraBio, Shionogi will gain ownership over Aqneursa, which could hit peak global sales of $1 billion across its two indications in Niemann-Pick disease type C and ataxia-telangiectasia, according to Jefferies.
Shionogi & Co. agreed to acquire ... approved rare disease drug and a pipeline of neurodegenerative disease programs to its portfolio. Under the terms of the deal, signed Monday, Shionogi's U.S. division — headquartered in New Jersey — will purchase all of IntraBio's shares, absorbing the biotech as a wholly owned subsidiary. The transaction is expected to close between November and December, the company said. Through the acquisition, Shionogi ... Shionogi & Co. agreed to acquire Austin, Texas-based IntraBio for $2 billion, adding an approved rare disease drug and a pipeline of neurodegenerative disease programs to its portfolio. Under the terms of the deal, signed Monday, Shionogi's U.S. division — headquartered in New Jersey — will purchase all of IntraBio's shares, absorbing the biotech as a wholly owned subsidiary. The transaction is expected to close between November and December, the company said. Through the acquisition, Shionogi will take ownership of worldwide rights to Aqneursa (levacetylleucine), encompassing both intellectual property and commercialization rights. The deal extends a rare disease push that Shionogi began when it brought the ALS therapy Radicava into its portfolio in April 2026 by securing worldwide rights to edaravone from Tanabe Pharma. "Bringing Aqneursa to Shionogi after our acquisition of Radicava will deepen our commitment to rare disease communities, expand our capabilities and strengthen our portfolio as we advance future innovation for patients with significant unmet needs," CEO Isao Teshirogi said in a statement. The drug is approved in the U.S. for the treatment of neurological manifestations of Niemann-Pick disease type C, a rare inherited disorder that impairs the movement of cholesterol and other lipids within cells. The U.S. Food and Drug Administration approved Aqneursa for that condition in September 2024 and the European Medicines Agency followed in January 2026. The FDA granted Aqneursa a second approval on September 18, 2026, for the treatment of ataxia in patients with Ataxia-Telangiectasia, a rare progressive neurodegenerative disease that typically begins in early childhood. Shionogi said IntraBio's rare disease capabilities would also support its broader pipeline, which includes clinical programs in Pompe disease, Fragile X $TWTR syndrome, and Jordan's syndrome.
Japanese firm builds its global rare disease portfolio and pipeline with acquisition of US-based IntraBio and lead drug Aqneursa for Niemann-Pick disease Type C.
