Aqneursa: Uses, Dosage & Side Effects
The first FDA-approved treatment for neurological manifestations of Niemann-Pick disease type C (NPC) in adults and children weighing 15 kg or more
Aqneursa (levacetylleucine) is a prescription medication and the first treatment approved by the U.S. Food and Drug Administration (FDA) specifically for the neurological manifestations of Niemann-Pick disease type C (NPC). NPC is a rare, progressive, and often fatal genetic disorder in which the body cannot properly transport cholesterol and other lipids within cells, leading to their toxic accumulation in the brain, liver, spleen, and other organs. Aqneursa is approved for use in adults and children weighing at least 15 kg. It is taken orally as granules dissolved in liquid, typically three times daily, with the dose determined by body weight. Clinical trials demonstrated that Aqneursa significantly slowed the progression of key neurological symptoms including ataxia, dysphagia, dysarthria, and fine motor skill deterioration.
Quick Facts: Aqneursa
Key Takeaways
- Aqneursa (levacetylleucine) is the first and only FDA-approved medication specifically indicated for treating the neurological manifestations of Niemann-Pick disease type C (NPC), a rare and progressive lysosomal storage disorder.
- The medication is approved for adults and children weighing 15 kg or more, with weight-based dosing: patients 15–35 kg take 1 g three times daily, patients 35–45 kg take 1 g morning/midday and 2 g evening, and patients over 45 kg take 2 g three times daily.
- Clinical trials demonstrated significant improvement in neurological function, particularly in domains of ambulation (walking), fine motor skills, swallowing, and speech, as measured by validated NPC clinical severity scales.
- The most common side effects include upper abdominal pain, difficulty swallowing, upper respiratory tract infections, vomiting, and decreased appetite; the overall safety profile is generally favorable.
- Aqneursa comes as granules in dose sachets that are dissolved in water, milk, or juice before drinking, making it suitable for patients who may have difficulty swallowing tablets, including children with NPC-related dysphagia.
What Is Aqneursa and What Is It Used For?
Aqneursa contains the active substance levacetylleucine, which is the acetylated form of the naturally occurring branched-chain amino acid L-leucine. It represents a first-in-class therapeutic approach for the treatment of NPC, a condition that until its approval in September 2024 had no FDA-approved disease-specific therapy available. Aqneursa was granted Breakthrough Therapy designation, Priority Review, Rare Pediatric Disease designation, and Orphan Drug designation by the FDA, reflecting the critical unmet medical need in the NPC patient population and the significant therapeutic advance this medication represents.
Niemann-Pick disease type C is a rare autosomal recessive lysosomal storage disorder caused by mutations in either the NPC1 gene (approximately 95% of cases) or the NPC2 gene (approximately 5% of cases). These genes encode proteins that are essential for the intracellular transport of cholesterol and other lipids out of late endosomes and lysosomes. When these proteins are absent or dysfunctional, unesterified cholesterol, glycosphingolipids (particularly glucosylceramide and lactosylceramide), sphingomyelin, and other lipids accumulate within cells throughout the body. This lipid accumulation is particularly devastating in the central nervous system, where it leads to progressive neuronal damage and cell death. The estimated incidence of NPC is approximately 1 in 120,000 to 1 in 150,000 live births, though this figure may underestimate the true prevalence due to diagnostic challenges.
The neurological manifestations of NPC are the primary cause of disability and mortality in affected individuals. These symptoms typically begin in childhood, although the age of onset is highly variable and can range from the neonatal period to adulthood. The hallmark neurological features include cerebellar ataxia (progressive difficulty with balance, coordination, and walking), vertical supranuclear gaze palsy (inability to move the eyes vertically), dysarthria (increasingly slurred and difficult-to-understand speech), dysphagia (progressive difficulty swallowing, which can lead to aspiration pneumonia and malnutrition), cognitive decline (progressive impairment of learning, memory, and executive function), dystonia and other movement disorders, and seizures. Without effective treatment, NPC follows a relentlessly progressive course, with most patients with childhood-onset disease dying in their second or third decade of life.
The exact mechanism by which levacetylleucine exerts its therapeutic effects in NPC is not fully elucidated, but multiple complementary mechanisms have been proposed based on preclinical and clinical research. Levacetylleucine is believed to interact with acidic phospholipids, particularly phosphatidylglycerol, in lysosomal membranes. This interaction may help to modulate lysosomal function and improve the trafficking of cholesterol and glycosphingolipids that are pathologically accumulated in NPC cells. Additionally, levacetylleucine appears to modulate calcium signaling within cells, which is known to be disrupted in NPC, and may influence autophagy pathways that are impaired in the disease. In preclinical models of NPC, levacetylleucine has been shown to reduce lipid storage, improve lysosomal function, and protect neurons from degeneration.
The pivotal clinical evidence supporting the approval of Aqneursa came from a randomized, double-blind, placebo-controlled, two-period crossover clinical trial that enrolled 60 patients aged 4 years and older with NPC. In this trial, patients received either levacetylleucine or placebo for 12 weeks, followed by a washout period, and then crossed over to the other treatment. The primary efficacy endpoint was the change from baseline in a functional disability score that assessed key neurological domains including ambulation, manipulation (fine motor skills), speech, and swallowing. The results demonstrated a statistically significant and clinically meaningful improvement in overall neurological function in patients treated with Aqneursa compared with placebo. Patients showed improvements in their ability to walk, use their hands for daily tasks, speak clearly, and swallow safely.
In addition to the pivotal trial, long-term open-label extension data have demonstrated sustained benefit with continued Aqneursa treatment. Patients who continued on levacetylleucine maintained their improvements in neurological function over extended periods, while those who had been on placebo and then switched to active treatment also showed improvement. These findings are particularly meaningful in the context of NPC, where the natural history is one of relentless neurological decline, and stabilization alone would represent a significant therapeutic achievement.
NPC is sometimes called "childhood Alzheimer's" because of the progressive cognitive decline it causes, although it is a distinct genetic disorder. It affects approximately 1 in 120,000 live births worldwide. NPC can present at any age, from infancy to adulthood, with the most common presentations occurring in late infancy or childhood. The disease affects multiple organ systems, but the progressive neurological deterioration is the primary driver of morbidity and mortality. Prior to Aqneursa, the only approved treatment for any aspect of NPC was miglustat (Zavesca), which was approved in the EU (but not the US) for the visceral manifestations of the disease, and was used off-label for neurological symptoms with limited evidence.
What Should You Know Before Taking Aqneursa?
Contraindications
The primary contraindication to Aqneursa use is known hypersensitivity (allergy) to levacetylleucine or to any of the inactive ingredients in the formulation. The granules contain the active ingredient levacetylleucine along with inactive ingredients including sorbitol, hypromellose, citric acid anhydrous, sodium citrate dihydrate, and sucralose. Patients with known allergies to any of these components should not take Aqneursa.
Patients with hereditary fructose intolerance should exercise caution, as Aqneursa contains sorbitol. Sorbitol is a source of fructose, and ingestion of sorbitol by individuals with hereditary fructose intolerance can cause serious adverse reactions including hypoglycemia, liver dysfunction, and metabolic acidosis. If you have been diagnosed with hereditary fructose intolerance, inform your doctor before starting Aqneursa, as an alternative formulation or treatment approach may need to be considered.
Warnings and Precautions
Tell your healthcare provider about all of your medical conditions before starting Aqneursa, including if you have hereditary fructose intolerance, liver problems, kidney problems, or if you are pregnant, plan to become pregnant, are breastfeeding, or plan to breastfeed. Report any new or worsening symptoms to your doctor promptly.
Before starting Aqneursa, discuss the following considerations with your healthcare provider:
- Swallowing difficulties: Many patients with NPC have dysphagia (difficulty swallowing) as part of their disease. While Aqneursa is formulated as granules that dissolve in liquid specifically to accommodate patients with swallowing problems, patients with severe dysphagia should be carefully monitored during administration to minimize the risk of aspiration. The dissolved solution should be consumed slowly, and caregivers should be trained in proper administration techniques.
- Hepatic impairment: NPC commonly affects liver function, and many patients have some degree of hepatosplenomegaly (enlarged liver and spleen) or hepatic dysfunction. Aqneursa has not been extensively studied in patients with severe hepatic impairment. Your doctor may wish to monitor liver function tests during treatment and adjust management accordingly.
- Renal impairment: Levacetylleucine is metabolized primarily through deacetylation to L-leucine and acetic acid, which are incorporated into normal metabolic pathways. While significant renal excretion of unchanged drug is not a major pathway, patients with severe kidney impairment should be monitored appropriately during treatment.
- Phenylketonuria (PKU): Aqneursa does not contain phenylalanine. However, as with all amino acid-derived compounds, patients with disorders of amino acid metabolism should inform their doctor before starting treatment.
Pregnancy and Breastfeeding
There are limited data on the use of Aqneursa in pregnant women. Animal reproduction studies have not been conducted with levacetylleucine. It is not known whether levacetylleucine can cause fetal harm when administered to a pregnant woman or can affect reproductive capacity. As NPC is a condition that primarily affects children and young adults, pregnancy considerations are relevant for a subset of the patient population, particularly those with adult-onset or milder forms of the disease.
If you are pregnant or planning to become pregnant, discuss the potential risks and benefits of Aqneursa treatment with your doctor. The decision to continue, start, or stop Aqneursa during pregnancy should be made on an individual basis, considering the severity of the patient's NPC and the potential consequences of untreated disease progression during pregnancy. Aqneursa should be used during pregnancy only if the potential benefit justifies the potential risk to the fetus.
It is not known whether levacetylleucine or its metabolites are excreted in human breast milk. Given that the primary metabolite is L-leucine, a naturally occurring amino acid that is present in breast milk, the risk to a nursing infant is considered to be low. However, a formal risk assessment has not been completed, and the decision to breastfeed during Aqneursa treatment should be made in consultation with your healthcare provider.
Children and Adolescents
Aqneursa is approved for use in pediatric patients weighing 15 kg (approximately 33 pounds) or more. This is particularly important because NPC frequently presents in childhood, and many patients are diagnosed during their pediatric years. The weight-based dosing regimen ensures appropriate drug exposure across different age groups and body sizes. Safety and efficacy have not been established in patients weighing less than 15 kg, and Aqneursa is not recommended for this population.
In the pivotal clinical trial, pediatric patients (aged 4 years and older) were included and showed comparable efficacy and safety outcomes to adult patients. The granule formulation was specifically developed to facilitate administration in children, who may have difficulty swallowing tablets or capsules, particularly given that dysphagia is a common feature of NPC. Caregivers should be instructed on the proper preparation and administration of Aqneursa to ensure the child receives the correct dose.
Driving and Operating Machinery
Aqneursa is not expected to impair the ability to drive or operate machinery based on its pharmacological properties and known side effect profile. However, NPC itself can cause neurological impairment that may affect the ability to drive or operate machinery. Patients should follow the guidance of their healthcare provider regarding activities that require motor coordination and alertness.
How Does Aqneursa Interact with Other Drugs?
One of the favorable characteristics of Aqneursa is its relatively low potential for pharmacokinetic drug-drug interactions. Unlike many small-molecule pharmaceuticals that are metabolized by cytochrome P450 (CYP) enzymes in the liver, levacetylleucine undergoes deacetylation to produce L-leucine (a naturally occurring essential amino acid) and acetic acid. These metabolites are then incorporated into the body's normal protein synthesis and metabolic pathways. This metabolic route bypasses the CYP enzyme system and reduces the likelihood of interactions with drugs that are either substrates, inhibitors, or inducers of CYP enzymes.
No formal drug interaction studies have been conducted with Aqneursa. However, in the clinical trial program, patients were permitted to continue their existing medications, and no clinically significant interactions were observed. Many NPC patients take multiple medications to manage various aspects of their disease. The following table summarizes the categories of medications commonly used by NPC patients alongside Aqneursa:
| Drug Category | Examples | Interaction Status |
|---|---|---|
| Miglustat | Zavesca (substrate reduction therapy for NPC) | No interaction identified; commonly co-administered |
| Antiepileptic drugs | Valproate, levetiracetam, carbamazepine, lamotrigine | No interaction identified |
| Antidepressants | SSRIs, SNRIs, tricyclics | No interaction identified |
| Antispasticity agents | Baclofen, tizanidine, botulinum toxin | No interaction identified |
| Proton pump inhibitors | Omeprazole, esomeprazole, pantoprazole | No interaction identified |
| Vitamins and supplements | Vitamin D, calcium, multivitamins | No interaction identified |
Although no formal interactions have been identified, it is important to inform your healthcare provider and pharmacist about all prescription medications, over-the-counter drugs, herbal supplements, and nutritional products you are currently taking before starting Aqneursa. This is a standard precaution for any new medication and helps ensure comprehensive monitoring of your treatment.
A theoretical consideration is the potential for interaction with other amino acid-based therapies or high-protein supplements, as levacetylleucine is an amino acid derivative. Competitive absorption at intestinal amino acid transporters could theoretically affect the bioavailability of levacetylleucine if taken simultaneously with large quantities of branched-chain amino acid supplements. While this has not been demonstrated clinically, it may be prudent to separate the timing of Aqneursa administration from branched-chain amino acid supplements by at least one hour.
Many NPC patients are on complex medication regimens to manage seizures, movement disorders, sleep disturbances, and other symptoms. The favorable drug interaction profile of Aqneursa makes it well-suited for addition to existing treatment plans without requiring dose adjustments of other medications. However, always coordinate any changes to your medication regimen through your treating physician or metabolic disease specialist.
What Is the Correct Dosage of Aqneursa?
Aqneursa should always be used exactly as prescribed by your healthcare provider. The medication is supplied as granules in individual dose sachets, each containing 1 g of levacetylleucine. Before administration, the granules must be dissolved in approximately 40 mL (about 3 tablespoons) of water, milk, infant formula, or juice. The solution should be stirred until the granules are fully dissolved, then consumed immediately. If the patient cannot drink the full amount at once, the solution may be consumed in portions, but should be taken within 30 minutes of preparation.
Weight-Based Dosing
The recommended dosing of Aqneursa is determined by the patient's body weight. Three dosing tiers have been established based on clinical trial data:
| Body Weight | Morning Dose | Midday Dose | Evening Dose | Total Daily Dose |
|---|---|---|---|---|
| 15 kg to <35 kg | 1 g (1 sachet) | 1 g (1 sachet) | 1 g (1 sachet) | 3 g |
| 35 kg to <45 kg | 1 g (1 sachet) | 1 g (1 sachet) | 2 g (2 sachets) | 4 g |
| ≥45 kg | 2 g (2 sachets) | 2 g (2 sachets) | 2 g (2 sachets) | 6 g |
The doses should be taken three times daily, ideally spaced evenly throughout the day (for example, with breakfast, lunch, and dinner). Aqneursa can be taken with or without food. If taking multiple sachets per dose, all sachets for that dose may be dissolved together in the same 40 mL of liquid.
Children
Aqneursa is approved for children weighing 15 kg or more, and the same weight-based dosing schedule applies to both pediatric and adult patients. For young children who may have difficulty drinking the full 40 mL solution, caregivers may use a small cup or oral syringe to administer the dissolved medication. It is essential that the child receives the entire dose. Growth should be monitored regularly in pediatric patients, as changes in body weight may require dose adjustments.
Elderly Patients
NPC is primarily a disease of childhood and young adulthood, and adult-onset NPC is relatively uncommon. Limited data are available on the use of Aqneursa in elderly patients (aged 65 years and older). No specific dose adjustment is recommended based on the available data, and the standard weight-based dosing should be applied.
Missed Dose
If you miss a dose of Aqneursa, take it as soon as you remember. However, if it is nearly time for your next scheduled dose, skip the missed dose and continue with your regular dosing schedule. Do not take a double dose to make up for a missed one. Consistent dosing three times daily is important for maintaining therapeutic drug levels and maximizing the clinical benefit of treatment.
Overdose
There is limited experience with overdose of Aqneursa. Levacetylleucine is metabolized to the naturally occurring amino acid L-leucine and acetic acid, both of which are components of normal human metabolism. In the event of an overdose, contact your healthcare provider or local poison control center immediately. Treatment should be supportive, with monitoring of clinical status. Given the relatively short half-life of approximately 1 hour, symptoms related to overdose would be expected to resolve relatively quickly.
How to Prepare and Take Aqneursa
Proper preparation of Aqneursa is important to ensure you receive the correct dose. Follow these steps for each dose:
- Check the sachet: Verify the correct number of sachets for your prescribed dose. Check the expiration date and ensure the sachets are intact and undamaged.
- Prepare the liquid: Pour approximately 40 mL (about 3 tablespoons) of water, milk, infant formula, or juice into a clean cup. The liquid should be at room temperature or cool; do not use hot liquids.
- Add the granules: Open the sachet(s) and pour the granules into the liquid. If your dose requires two sachets, both may be added to the same liquid.
- Stir until dissolved: Stir the mixture with a spoon until the granules are completely dissolved (approximately 30 seconds to 1 minute).
- Drink immediately: Consume the entire solution immediately after preparation. If needed, the solution may be consumed in portions within 30 minutes.
- Rinse the cup: Add a small amount of liquid to the cup, swirl, and drink the rinse to ensure you receive the full dose.
What Are the Side Effects of Aqneursa?
Like all medicines, Aqneursa can cause side effects, although not everybody gets them. The safety profile has been evaluated in clinical trials involving patients with NPC, including both adults and children. Overall, the medication was generally well tolerated, with most adverse events being mild to moderate in intensity. It is important to note that distinguishing drug-related side effects from symptoms of the underlying NPC disease can be challenging, as many reported adverse events overlap with the neurological manifestations of NPC itself.
Common
May affect up to 1 in 10 patients
- Upper abdominal pain (stomach pain)
- Dysphagia (difficulty swallowing)
- Upper respiratory tract infection (cold, sore throat)
- Vomiting
- Decreased appetite
- Nausea
- Diarrhea
- Fatigue (tiredness)
Uncommon
May affect up to 1 in 100 patients
- Headache
- Dizziness
- Abdominal distension (bloating)
- Flatulence
- Rash
- Weight changes
- Insomnia (difficulty sleeping)
Rare
May affect up to 1 in 1,000 patients
- Allergic reactions (hypersensitivity)
- Elevated liver enzymes
- Muscle pain (myalgia)
Not Known
Frequency cannot be estimated from available data
- Severe allergic reactions (anaphylaxis)
- Angioedema (swelling of face, lips, tongue, or throat)
The gastrointestinal side effects (abdominal pain, vomiting, nausea, diarrhea, decreased appetite) are among the most frequently reported. These symptoms are generally mild and often improve with continued use. Taking Aqneursa with food may help reduce gastrointestinal discomfort.
Dysphagia (difficulty swallowing) was reported in clinical trials, but this is also a core neurological symptom of NPC. In the pivotal trial, Aqneursa actually improved swallowing function in most patients over the treatment period, suggesting that instances of worsening dysphagia may be related to disease progression rather than a direct drug effect.
Upper respiratory tract infections were reported at a somewhat higher rate in the Aqneursa group compared to placebo. These infections were generally mild and resolved without requiring treatment modification.
Contact your healthcare provider or seek emergency medical care if you experience signs of a serious allergic reaction, including difficulty breathing, swelling of the face, lips, tongue, or throat, severe skin rash or hives, rapid heartbeat, or feeling faint. Also seek medical attention if you experience severe or persistent vomiting, signs of aspiration (choking, coughing during eating or drinking), or any symptoms that concern you.
If you experience any side effects while taking Aqneursa, report them to your healthcare provider. You can also report side effects to the FDA MedWatch program to help gather important safety information about this newly approved medication.
How Should You Store Aqneursa?
Proper storage of Aqneursa is important to ensure the medication remains effective and safe. The dose sachets should be stored at controlled room temperature between 20°C and 25°C (68°F to 77°F). Brief excursions to temperatures between 15°C and 30°C (59°F to 86°F) are permitted. Do not expose to excessive heat, direct sunlight, or high humidity.
Keep the sachets in their original carton until ready for use. Do not transfer the granules to a different container. Do not use Aqneursa after the expiration date printed on the carton and individual sachet. Once the granules have been dissolved in liquid, the solution should be consumed immediately or within 30 minutes. Do not refrigerate or freeze the prepared solution.
Keep Aqneursa out of the sight and reach of children. Do not dispose of medications via wastewater or household waste. Ask your pharmacist how to properly dispose of medications you no longer need.
What Does Aqneursa Contain?
Each dose sachet of Aqneursa contains 1 gram (1,000 mg) of levacetylleucine as the active pharmaceutical ingredient. Levacetylleucine is the N-acetyl derivative of the naturally occurring L-enantiomer of leucine, one of the nine essential amino acids. Its molecular formula is C8H15NO3, and its molecular weight is approximately 173.21 g/mol. The compound is a white to off-white crystalline powder that is soluble in water.
The inactive ingredients (excipients) in Aqneursa serve specific roles in the formulation:
- Sorbitol: Acts as a sweetener and aids in the dissolution of the granules. Patients with hereditary fructose intolerance should use Aqneursa with caution.
- Hypromellose (hydroxypropyl methylcellulose): Serves as a binding agent that helps form the granules and controls their dissolution rate.
- Citric acid anhydrous: Provides a slightly acidic environment that enhances dissolution and stability and contributes to taste.
- Sodium citrate dihydrate: Acts as a buffering agent to maintain an appropriate pH range.
- Sucralose: A non-caloric sweetener added to improve palatability, particularly important for pediatric patients.
The granules are white to off-white in appearance. When dissolved in water, the resulting solution is clear to slightly opalescent. The formulation was specifically designed as oral granules rather than tablets or capsules to accommodate the swallowing difficulties (dysphagia) common in NPC patients.
Aqneursa does not contain gluten, lactose, artificial colors, or phenylalanine. The formulation is free from common allergens including milk proteins, soy, peanuts, tree nuts, fish, shellfish, wheat, and eggs.
Frequently Asked Questions About Aqneursa
Aqneursa (levacetylleucine) is the first FDA-approved treatment specifically for the neurological manifestations of Niemann-Pick disease type C (NPC) in adults and children weighing 15 kg or more. NPC is a rare genetic disorder that causes progressive neurological deterioration including problems with walking, swallowing, speech, and fine motor control. Aqneursa helps slow the progression of these neurological symptoms and may improve some aspects of neurological function.
Aqneursa contains levacetylleucine, an acetylated form of the amino acid L-leucine. While the exact mechanism is still being studied, levacetylleucine is believed to modulate lysosomal function and improve cellular lipid trafficking that is disrupted in NPC. It interacts with phospholipids in lysosomal membranes to help restore normal transport of cholesterol and other lipids within cells, reducing the toxic accumulation that damages neurons.
Yes, based on available clinical data, Aqneursa can be used alongside miglustat (Zavesca). In clinical trials, many patients continued to take miglustat while receiving Aqneursa, and no clinically significant drug interactions were identified. The two medications work through different mechanisms and may be prescribed together as part of a comprehensive treatment strategy for NPC.
In the pivotal clinical trial, improvements in neurological function were observed over the 12-week treatment period. Some patients may notice improvements within the first few weeks, while for others benefits may develop more gradually. Long-term data suggest that continued treatment provides sustained benefit. Your healthcare provider will typically evaluate effectiveness over several months using standardized clinical assessments.
As of its initial approval in September 2024, Aqneursa was approved by the U.S. FDA. Regulatory submissions in other countries are ongoing or being planned. Patients outside the US should consult their physician about available options, which may include compassionate use programs or clinical trials. Organizations such as the National Niemann-Pick Disease Foundation can provide up-to-date information on global availability.
If you stop taking Aqneursa, the neurological benefits may diminish over time as the underlying NPC disease continues to progress. In the clinical trial, patients who stopped levacetylleucine showed a return toward their baseline neurological status. NPC is a progressive disorder, and without treatment, neurological deterioration typically continues. Do not stop taking Aqneursa without first consulting your healthcare provider.
References
- U.S. Food and Drug Administration (FDA). Aqneursa (levacetylleucine) Prescribing Information. September 2024.
- Patterson MC, Garber M, Goulding RP, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurology Clinical Practice. 2023;13(3):e200142.
- Bremova-Ertl T, Claassen J, Grill E, et al. Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. Journal of Neurology. 2024.
- Vanier MT. Niemann-Pick disease type C. Orphanet Journal of Rare Diseases. 2010;5:16.
- Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases. 2018;13:50.
- World Health Organization (WHO). Model List of Essential Medicines for Children. 2023 Update.
- Strupp M, Bayer O, Feil K, et al. Prophylactic treatment of migraine with and without aura with acetyl-DL-leucine: A case series. Journal of Neurology. 2019;266(S1):S44-S49.
- American College of Medical Genetics and Genomics (ACMG). Practice guideline: Diagnosis and management of Niemann-Pick disease type C. 2023.
- National Institute for Health and Care Excellence (NICE). Rare diseases: Assessment and management. NG125. Updated 2023.
- European Medicines Agency (EMA). Orphan designation: Levacetylleucine for Niemann-Pick disease type C. EU/3/20/2357.
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