Jefferson University Hospitals

Vickie & Jack Farber Institute for Neuroscience


What Is ALS?

Amyotrophic lateral sclerosis (ALS) is a group of rare neurological diseases that mainly involve the nerve cells (neurons) responsible for controlling voluntary muscle movement. Voluntary muscles produce movements like chewing, walking, and talking. The disease is progressive, meaning the symptoms get worse over time.

Every 90 minutes someone is diagnosed with ALS worldwide. There are about 30,000 people living with ALS in the USA and about 300 are estimated to live within the Philadelphia metro region.

Please reach out to get evaluated: 215-503-4294

Learning Resources

Activities of the Weinberg ALS Center

At Weinberg we treat patients diagnosed with ALS, however this does not mean that all cases of ALS are the same. They can differ both clinically and at the molecular level. Every patient and every case of ALS is unique, this is why we provide a specialized team of 15 care providers including four physicians and a team of  researchers using three separate laboratories. This allows us to deliver highly individualized and personalized treatment to each and every patient.

Current Drugs & Clinical Trials


The First FDA approved drug for treating ALS, slows disease progression by a few months, allowing patients to maintain higher function a bit longer.


The second FDA approved drug for treating ALS, also slows the physical functional decline typical of ALS. Although approved for most patients, Radicava works better in patients in early stages of the disease.

Stages of ALS

Early Stages of ALS

  • Muscle atrophy, weakness, stiffness, or spasticity
  • Fatigue, poor balance, impaired speech or swallowing, stumbling when walking

Middle Stages of ALS

  • Symptoms become less isolated
  • Increased muscle weakness or paralysis
  • Joints stiffened, painful, and/or deformed
  • Difficulty swallowing and breathing
  • Disconnected or Inappropriate emotional responses

Late Stages of ALS

  • Loss of voluntary muscles, limited mobility, and/or personal care required
  • Severely compromised breathing
  • Increased fatigue, unclear thinking, and headaches
  • Inability to speak or consume liquids/foods by mouth

The Science of ALS

Identifying the role of the blood-brain barrier in treating ALS

There are two FDA-approved medications for ALS. They are riluzole, which has been available for many years, and edaravone, which was approved in 2017.

Our brain is protected by a  system called the blood-brain barrier. This system helps protect our brain from toxins. The barrier has two parts: a membrane, or physical barrier, and ABC pumps. If toxins make it past the membrane, the ABC pumps are supposed to identify them, capture them and pump them away from the brain.

Eventually, the nervous system of a person who has ALS realizes there is a problem. In an effort to protect the body, the ABC pumps become more sensitive. Unfortunately, it appears this means the ABC pumps begin to identify riluzole as a toxin. They capture the medication and pump it away from the brain.

Jefferson researchers are working on finding a medication that can slow the ABC blockers. If a medication is found, it may be able to be paired with riluzole.

Communication Within the Body

Our spinal cord is made up of motor neurons. These are special kinds of cells that help control and facilitate communication with our muscles.

A neuromuscular junction is a chemical synapse formed by the contact between a motor neuron and a muscle fiber.

 It is believed that pathological changes at the neuromuscular junction produces the symptoms of ALS. There are certain proteins necessary to facilitate proper function, people suffering from ALS produce fewer and fewer of these key proteins as the disease progresses. It is believed this is a major cause of the weakness often experienced.

Our scientists are investigating what causes this shortage of proteins. This could pave the way for research into a medication to help in their preservation. Preserving these proteins may help preserve quality of life in ALS.

How Astrocytes Damage The Motor Neurons

Astrocytes are the nervous system’s supportive cells. They produce and secrete proteins that help the rest of the nervous system function. In people with ALS, the astrocytes begin to secrete toxic proteins. These toxic proteins seem to quicken the progression of ALS.

Jefferson researchers are trying to find out what causes the astrocytes to secrete these toxic proteins. Once this question is answered, researchers hope to develop a medication to stop the secretion of these toxic proteins. This could either slow or stop the progression of ALS.

The Genes Behind ALS

Everyone has the gene C9Orf72. However, some people have a mutation of that gene that is known to cause ALS. Unfortunately, no one currently knows why that mutation occurs.

Jefferson researchers are investigating a number of angles surrounding the C9orf72 mutation and other ALS-linked genetic mutations, such as FUS and TDP43. One theory is that people with the mutation develop toxic proteins or nucleic acids as a result of these mutation. If this theory is found to be true, a treatment option may involve a medication that reduces production of these toxic entities.

Make An Appointment

Appointments are available every Friday for patients with a confirmed diagnosis of ALS. Diagnostic services are also available. If you have been told you have ALS, or have been asked to see an ALS specialist for a possible diagnosis, we can help. Please call the Jefferson Weinberg ALS Clinical Coordinator, Kate Monahan at 215-503-4294 or 215-955-8800.

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Find out how you can support Thomas Jefferson University and Hospitals to make a difference in the research and treatment of ALS.