The FDA recently approved the groundbreaking medication aqneursa or aqnuersa (levacetylleucine) to treat neurological symptoms of Niemann-Pick Disease Type C (NPC).
We will provide insight on Aqnuersa’s science, its advantages, and possible side effects.
What is Niemann Pick Disease Type C (NPC)?
NPC is a rare genetic disorder causing about 1 in 100,000 live births.
Progressive neurological, systemic problems and psychiatric problems together contribute to profound functional and cognitive decline, which constitute the disease.
This disease results from mutations in the NPC1 or NPC2 genes which are not able to normal transport of cholesterol and other lipids in cells.
The cellular dysfunction that it accumulates is very wide spread, but especially affects liver, brain, and spleen.
The Science Behind Aqnuersa or Aqneursa.
Pu’Ahufa (Pseudoacetylhistidylserine) is a modified form of the chemical histidylserine.
It is not well understood how exactly this works, but it does seem to normalise energy metabolism in cells involved.
The neurodegenerative effects caused by lipid accumulation in the brain are minimized by normalizing this condition.
Tests in clinical trials have also shown that Aqnuersa can reduce key neurological symptoms and functional outcomes in NPC patients by nearly two thirds within 12 weeks of treatment.
How Aqnuersa Works?
Aqnuersa alters the brain’s metabolism, increasing the supply of energy to neurons and supporting its functioning, research suggests.
Improve motor coordination, cognitive motor functions, and overall quality of life in patients.
This helps ensure sufficient delivery of the drug to the areas that are affected by NPC, given that the drug can, at the same time, bypass the blood brain barrier.
FDA Approval and Studies in Clinical Trials
Aqnuersa was approved by the FDA September 24, 2024, after a robust clinical study program.
The study backbone included 60 patients who took Aqnuersa for 12 weeks, and then placebo for another 12 weeks.
The results suggested marked improvement in neurological symptoms and improvement in function when compared with the placebo.
Clinical Trial Results
The clinical trials revealed several key findings:
Functional Improvement: Aqnuersa improved patients’ fSARA scores (a scale for ataxia severity) in a markedly positive way.
Safety Profile: Most adverse effects of the drug were mild and manageable and were well tolerated.
Long-Term Efficacy: Long term use of Aqnuersa may continue to be therapeutic, although there are no known significant safety concerns based on preliminary data.
Benefits of Aqnuersa
Aqnuersa offers several benefits for NPC patients:
Improved Neurological Symptoms: In the functional Scale for Assessment and Rating of Ataxia (fSARA) score, patients have had better outcomes.
Ease of Administration: Aqnuersa is convenient for patients to take by mouth.
Potential for Long-Term Benefits: The long term effects of Aqnuersa on NPC patients are still being studied.
Enhancing Quality of Life
In addition to clinical improvements, Aqnuersa is also said to improve the quality of life for NPC patients as a whole.
The more holistic benefit these families have noted improvements in daily activities, social interactions, and overall mood with patients who are effected by this devastating disease.
Potential Side Effects
Aqnuersa hasn’t been without side effects but has shown promising results. The most common adverse reactions include:
Gastrointestinal Issues: These may include abdominal pain, nausea and vomiting in the patient.
Respiratory Concerns: Some had difficulty swallowing and upper respiratory tract infections.
Other Reactions: Some have also reported headaches and fatigue.
Managing Side Effects
These are potential side effects, however, important for patients and caregivers to be made aware of and for patients and caregivers to communicate regularly with healthcare providers.
These reactions can be managed effectively using adjustments in dosage or additional treatments.
Highlights
This is an important advance for NPC treatment and brings hope to patients and their families.
It’s been clinically trialled and shown to be effective and safe, making it a useful tool to have in your back pocket.
Those with a patient should be aware of potential side effects and consult their healthcare providers before it happens.
Aqnuersa is under long term studies to further establish Aqnuersa’s safety and benefit profile over the long term.
FAQs
- Niemann-Pick Disease type C (NPC) is what?
A: NPC is a rare disorder of lipid transport within cells that results in progressive neurological symptoms and organ dysfunction.
- How does Aqnuersa work?
A: The exact mechanism of how aqnuersa helps normalize energy metabolism in affected cells is not known, but it is believed to help.
- What are the side effects of taking Aqnuersa?
A: The most commonly reported side effects were abdominal pain, difficulty swallowing, upper respiratory tract infections and vomiting.
- How is Aqnuersa administered?
A: Up to three times a day with or without food, Aqnuersa is taken orally.
- Is Aqnuersa safe during pregnancy?
A: If used during pregnancy, this drug can cause fetal harm. They advise females of reproductive potential to use effective contraception during treatment, and for seven days after stopping treatment if it is stopped.
- Is Aqnuersa able to be used in children?
A: In pediatric patients Aqnuersa has proven itself with promise but will require the input of a healthcare provider to establish a complete treatment plan based on a child’s age and individual circumstances.
- How quickly will Aqnuersa start to work?
A: However, patients have reported they are feeling better in as little as 12 weeks after beginning the treatment, although individual responses may vary.
Disclaimer
This article presents information only and is not a substitute for medical advice.
Your healthcare provider is always the best person to consult for personalized recommendations.