Skip to content
How It Works
Explore
Ask a Question Resources Pricing
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Sign Up
PubMed This is a summary of 22 peer-reviewed journal articles Updated
Neurology · Amyotrophic Lateral Sclerosis

Standard of Care and Treatment Strategy for ALS

At a Glance

For NEK1-linked ALS, no gene-specific therapy is approved yet. Care focuses on standard ALS medicines such as riluzole and, for eligible people, edaravone, plus breathing and nutrition support, symptom control, and coordinated multidisciplinary care.

While there is currently no “cure” for ALS, the medical community has a clear, evidence-based strategy for managing the disease. This “Standard of Care” focuses on three pillars: slowing the biological progression of the disease, supporting your breathing and nutrition, and managing symptoms to maximize your quality of life. Even though your diagnosis is linked to the NEK1 gene (ALS24), your treatment will follow these same proven paths [1][2].

Biological Treatments: Slowing the Progress

Currently, two primary medications are approved in many countries (though availability varies by jurisdiction) to help slow the progression of ALS.

  • Riluzole: This is the longest-standing treatment for ALS. It works by reducing the levels of glutamate, a chemical messenger that can become toxic to motor neurons when it builds up [1]. Clinical trials and long-term studies show that Riluzole typically extends survival by about 2 to 3 months, with a 9% higher chance of surviving an additional year [2][3]. These survival estimates are population averages and require regular blood tests to monitor liver function. Approvals and formulations vary by country, but it is often available as a tablet, an oral liquid, or a thin film that dissolves on the tongue [4][5].
  • Edaravone (Radicava): This drug acts as an antioxidant to reduce “oxidative stress” in the nerves [6]. Its strongest evidence comes from a specific, highly selected group of patients in the early stages of the disease (diagnosed within 2 years, with strong lung function) [6]. In these patients, Edaravone was shown to slow the decline of physical function by about 33% over six months [6]. This does not guarantee an individual benefit and the drug can carry risks of hypersensitivity or sulfite-related reactions. It is available as an intravenous (IV) infusion or as an oral liquid [4].

Important Update on Relyvrio (AMX0035): You may see older information about a drug called Relyvrio. Following a large Phase 3 trial (PHOENIX) that showed the drug did not meet its goals for slowing the disease, the manufacturer voluntarily withdrew it from the US and Canadian markets in early 2024 [7][8]. It is no longer a standard part of ALS care.

Gene-Targeted Therapies

You may have heard of Tofersen (Qalsody), a groundbreaking therapy that targets a specific genetic mutation. It is important to note that Tofersen is only for people with a SOD1 gene mutation; it does not work for NEK1 (ALS24) [9][10]. While there are currently no approved gene-specific therapies for NEK1, researchers are actively studying how to “fix” the DNA repair and cellular highway issues caused by the NEK1 variant [11].

The Role of Respiratory and Nutritional Support

While medications are important, the most significant impacts on survival and quality of life often come from “interventional” supports.

  1. Non-Invasive Ventilation (NIV): This involves wearing a mask at night (or during the day) that provides pressurized air to help your breathing muscles rest [12]. NIV has been shown to prolong survival and, more importantly, significantly improve sleep quality and daytime energy levels [12][13]. While doctors often recommend starting NIV when you notice morning headaches or shortness of breath while lying flat [14][15], waiting for these symptoms can be too late for some; decisions are individualized using objective respiratory and nocturnal measures.
  2. Gastrostomy (PEG Tube): A PEG tube is a small feeding tube placed directly into the stomach. It is not “giving up” on eating; rather, it is a tool to ensure you get enough calories and hydration without the exhaustion or choking risks that can come with late-stage ALS [16][17]. Most experts recommend placing a PEG tube before you lose significant weight or before your lung function drops too low, as this makes the procedure much safer [18][19]. It is important to note that a PEG tube does not eliminate the risk of aspirating your own saliva.

Comprehensive Symptom Management & Palliative Care

Standard of care also includes managing daily symptoms (cramps, spasticity, pseudobulbar affect, and secretions) and engaging with palliative care for advance care planning, ensuring your goals and comfort are always prioritized.

Multidisciplinary Care

The most critical part of your treatment strategy is not any single drug, but your Multidisciplinary Care Team. Research consistently shows that patients who are seen regularly by a team of specialists (neurologists, respiratory therapists, speech pathologists, and nutritionists) live longer and have fewer complications than those who see a single doctor [20][21]. This team ensures that as your needs change, your equipment and medications are adjusted in real-time [22].

Common questions in this guide

What medications are used to slow the progression of ALS?
Riluzole is an established ALS medicine that may extend survival by a few months and requires liver-function monitoring. Edaravone may slow functional decline in a selected group of people with early ALS and good lung function, but availability and eligibility vary by country. Relyvrio is no longer a standard treatment in the United States and Canada after its manufacturer withdrew it in 2024.
Can tofersen treat ALS caused by a NEK1 variant?
No. Tofersen is designed for ALS caused by a SOD1 mutation and is not an approved treatment for NEK1-related ALS. Researchers are studying NEK1 biology and possible gene-specific approaches, but no NEK1-targeted therapy is currently approved.
When should I ask about noninvasive ventilation for ALS?
Your ALS team may consider noninvasive ventilation when the breathing muscles weaken, especially if you have morning headaches, shortness of breath when lying down, sleep problems, or daytime fatigue. Decisions should also use breathing tests and overnight monitoring because symptoms may appear after breathing weakness has begun. The timing is individualized.
When is a PEG feeding tube recommended in ALS?
A PEG tube may be safest when considered before substantial weight loss or severe decline in lung function. It can provide calories and fluids when eating is exhausting or swallowing is unsafe, but it does not remove the risk of aspirating saliva. Your team should discuss timing based on nutrition, swallowing, breathing, and your goals.
What does a multidisciplinary ALS care team do?
A multidisciplinary team may include a neurologist, respiratory therapist, speech pathologist, and nutrition specialist, with palliative care support when appropriate. The team monitors breathing, swallowing, nutrition, symptoms, equipment, and medications, adjusting care as needs change. Regular coordinated care can help reduce complications and support quality of life.

Questions For You

Answer a question to get research tailored to you. Your answers are private.

Get notified when new evidence is published on amyotrophic lateral sclerosis, susceptibility to, 24.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Am I a candidate for Riluzole, and which formulation—tablet, liquid, or film—would be best for my current swallowing ability?
  2. 2.Do I meet the specific 'early-disease' criteria (such as FVC over 80% and recent diagnosis) used in the successful clinical trials for Edaravone?
  3. 3.Given my NEK1 variant, are there any upcoming clinical trials specifically investigating DNA repair or microtubule stability that I should watch for?
  4. 4.Can we schedule a baseline respiratory assessment, including MIP and nocturnal oximetry, even if my FVC still looks 'normal'?
  5. 5.At what point in my progression would you recommend we transition from discussing a PEG tube to actually scheduling the procedure?

References

References (22)
  1. 1

    Riluzole: real-world evidence supports significant extension of median survival times in patients with amyotrophic lateral sclerosis.

    Hinchcliffe M, Smith A

    Degenerative neurological and neuromuscular disease 2017; (7()):61-70 doi:10.2147/DNND.S135748.

    PMID: 30050378
  2. 2

    Treatment continuity of amyotrophic lateral sclerosis with available riluzole formulations: state of the art and current challenges in a 'real-world' setting.

    Corcia P, Guy N, Pradat PF, et al.

    Amyotrophic lateral sclerosis & frontotemporal degeneration 2025; (26(1-2)):15-21 doi:10.1080/21678421.2024.2375330.

    PMID: 38973130
  3. 3

    Guideline "Motor neuron diseases" of the German Society of Neurology (Deutsche Gesellschaft für Neurologie).

    Petri S, Grehl T, Grosskreutz J, et al.

    Neurological research and practice 2023; (5(1)):25 doi:10.1186/s42466-023-00251-x.

    PMID: 37316950
  4. 4

    Edaravone Oral Suspension: A Neuroprotective Agent to Treat Amyotrophic Lateral Sclerosis.

    Singh P, Belliveau P, Towle J, et al.

    American journal of therapeutics 2024; (31(3)):e258-e267 doi:10.1097/MJT.0000000000001742.

    PMID: 38691665
  5. 5

    Pharmacokinetics of Edaravone Oral Suspension in Patients With Amyotrophic Lateral Sclerosis.

    Shimizu H, Nishimura Y, Shiide Y, et al.

    Clinical therapeutics 2023; (45(12)):1251-1258 doi:10.1016/j.clinthera.2023.09.025.

    PMID: 37953075
  6. 6

    Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial.

    ,

    The Lancet. Neurology 2017; (16(7)):505-512 doi:10.1016/S1474-4422(17)30115-1.

    PMID: 28522181
  7. 7

    Sodium Phenylbutyrate and Tauroursodeoxycholic Acid: A Story of Hope Turned to Disappointment in Amyotrophic Lateral Sclerosis Treatment.

    Ketabforoush A, Faghihi F, Azedi F, et al.

    Clinical drug investigation 2024; (44(7)):495-512 doi:10.1007/s40261-024-01371-1.

    PMID: 38909349
  8. 8

    Real-World Clinical Experience With Sodium Phenylbutyrate and Taurursodiol at a Single Amyotrophic Lateral Sclerosis Center in the United States.

    Calcagno N, Scirocco E, Clampffer E, et al.

    European journal of neurology 2025; (32(9)):e70360 doi:10.1111/ene.70360.

    PMID: 40965373
  9. 9

    Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.

    Miller TM, Cudkowicz ME, Genge A, et al.

    The New England journal of medicine 2022; (387(12)):1099-1110 doi:10.1056/NEJMoa2204705.

    PMID: 36129998
  10. 10

    Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.

    Miller T, Cudkowicz M, Shaw PJ, et al.

    The New England journal of medicine 2020; (383(2)):109-119 doi:10.1056/NEJMoa2003715.

    PMID: 32640130
  11. 11

    Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.

    Takahashi H, Kasai T, Miyagawa-Hayashino A, Ohara T

    Frontiers in neuroscience 2025; (19()):1688839 doi:10.3389/fnins.2025.1688839.

    PMID: 41122379
  12. 12

    Mechanical ventilation for amyotrophic lateral sclerosis/motor neuron disease.

    Radunovic A, Annane D, Rafiq MK, et al.

    The Cochrane database of systematic reviews 2017; (10()):CD004427 doi:10.1002/14651858.CD004427.pub4.

    PMID: 28982219
  13. 13

    Effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with amyotrophic lateral sclerosis.

    Boentert M, Brenscheidt I, Glatz C, Young P

    Journal of neurology 2015; (262(9)):2073-82 doi:10.1007/s00415-015-7822-4.

    PMID: 26076745
  14. 14

    Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care.

    Jaspers Focks RJ, Helleman J, van den Berg LH, et al.

    Journal of neuromuscular diseases 2025; (12(3)):372-381 doi:10.1177/22143602251319167.

    PMID: 40091372
  15. 15

    Comparative Performance of Different Respiratory Test Parameters for Detection of Early Respiratory Insufficiency in Patients With ALS.

    Kelly CR, Parra-Cantu C, Thapa P, et al.

    Neurology 2022; (99(7)):e743-e750 doi:10.1212/WNL.0000000000200758.

    PMID: 35584920
  16. 16

    Predictive factors for gastrostomy at time of diagnosis and impact on survival in patients with amyotrophic lateral sclerosis.

    Vergonjeanne M, Fayemendy P, Marin B, et al.

    Clinical nutrition (Edinburgh, Scotland) 2020; (39(10)):3112-3118 doi:10.1016/j.clnu.2020.01.018.

    PMID: 32063408
  17. 17

    Effectiveness of percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis.

    Elbe P, Markus K, Valente R, et al.

    Minerva gastroenterologica e dietologica 2020; (66(3)):219-224 doi:10.23736/S1121-421X.20.02695-1.

    PMID: 32724029
  18. 18

    Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study.

    The Lancet. Neurology 2015; (14(7)):702-9.

    PMID: 26027943
  19. 19

    Percutaneous Endoscopic Gastrostomy Placement under NIV in Amyotrophic Lateral Sclerosis with Severe Ventilatory Dysfunction: A Safe and Effective Procedure.

    Gaspar R, Ramalho R, Coelho R, et al.

    GE Portuguese journal of gastroenterology 2023; (30(1)):61-67 doi:10.1159/000519926.

    PMID: 36743993
  20. 20

    Pathogenesis of amyotrophic lateral sclerosis.

    Morgan S, Orrell RW

    British medical bulletin 2016; (119(1)):87-98 doi:10.1093/bmb/ldw026.

    PMID: 27450455
  21. 21

    Oropharyngeal Dysphagia as the Main Expression of Amyotrophic Lateral Sclerosis.

    Rugaitienė M, Damulevičienė G, Lesauskaitė V, Ulozienė I

    Medicina (Kaunas, Lithuania) 2022; (58(5)) doi:10.3390/medicina58050647.

    PMID: 35630064
  22. 22

    Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases.

    Quinn C, Elman L

    Continuum (Minneapolis, Minn.) 2020; (26(5)):1323-1347 doi:10.1212/CON.0000000000000911.

    PMID: 33003004

This page is for informational purposes only and does not constitute medical advice. Your neurologist and multidisciplinary ALS team can tailor medication, breathing, nutrition, and symptom-support decisions to your NEK1-related ALS and personal goals.