6 Treatments for Friedreich Ataxia: Medication, Therapies, and Clinical Trials

The treatment of Friedreich ataxia (sometimes abbreviated FA or FRDA) often includes a combination of approaches to manage symptoms. Doctors may prescribe medications that improve coordination issues caused by the neurodegenerative disease. Physical, occupational, and speech therapy can help people keep their independence. The overall goal of treatment is to improve quality of life and preserve function as much as possible.

This article will cover six treatments for Friedreich ataxia. To learn more about treatment options that may work for you or a loved one, talk to your doctor.

1. Omaveloxolone

Omaveloxolone (Skyclarys) is the first medication approved for treating Friedreich ataxia in adults and adolescents ages 16 and older. The U.S. Food and Drug Administration (FDA) approved omaveloxolone in 2023. This drug acts like an antioxidant, helping to control inflammation. Omaveloxolone can improve symptoms and may help slow the disease, but it’s not yet clear how much it changes outcomes over the long term.

Researchers studied omaveloxolone in a clinical trial of 103 people with Friedreich ataxia. People were given either the drug or a placebo (a fake drug that’s inactive). The study specifically looked at improvement in the modified Friedreich Ataxia Rating Scale (mFARS). The lower a person’s score, the better their neurological function. Functions examined included their swallowing, speech, and coordination.

After 48 weeks of treatment, the researchers compared the two treatment groups. People who took omaveloxolone improved their scores by 1.55 points. On the other hand, those taking the placebo ended the study with scores that worsened by 0.85 points. Overall, people who took omaveloxolone had better outcomes than those who didn’t.

The most common side effects of omaveloxolone seen during the clinical trial included:

• Nausea
• Abdominal pain and diarrhea
• Headache
• Fatigue
• Muscle pain
• Signs of liver damage

It’s important to note that this study was small and didn’t last very long. Researchers aren’t sure yet about how effective omaveloxolone is over time. Friedreich ataxia progresses slowly, and reseachers think this medication may help over a person’s lifetime. Another trial — called an open-label extension — is currently studying the long-term safety and efficacy of omaveloxolone.

2. Physical Therapy

Physical therapy helps people gain and maintain mobility. Friedreich ataxia is a neurological disorder that damages the nervous system. It specifically affects the cerebellum — the part of the brain that controls movement and balance. Friedreich ataxia also thins the nerves in the spinal cord, arms, and legs. All of these changes affect mobility and independence.

People with Friedreich ataxia have problems with coordinating muscle movements. This leads to symptoms like:

• Unsteady gait (walking) that gets worse over time
• Difficulty balancing
• Trouble feeling sensations in the arms and legs
• Fatigue
• Scoliosis (an abnormal curve in the spine)

Physical therapy is a key part of managing Friedreich ataxia symptoms. Physical therapists specialize in assessing and treating mobility problems. They look at how you move at your baseline and create exercises to help. For example, you may need gait training to improve how you walk. Balance exercises help prevent falls and improve your walking ability as well.

A physical therapist may also suggest mobility aids to keep you independent. Specialized orthotic shoes, a cane, or a walker can all help you move around on your own. Ankle-foot orthotics may be useful for preventing foot deformities and aligning the joints for safe mobility.

3. Speech-Language Therapy

Friedreich ataxia affects the muscles used to speak and swallow. Many people with this condition have slow or slurred speech. They also have trouble swallowing. Speech-language therapy addresses these problems.

Speech-language pathologists are therapists trained to help manage issues with speech and swallowing. People with Friedreich ataxia have altered speech that can be hard to understand. This is due to muscle weakness and problems with breath support. Speech therapists teach ways to support the trunk and breathing muscles when speaking.

In some cases, augmentative and alternative communication (AAC) devices may be appropriate. These devices might include iPads, computers, and even picture boards that help people communicate. Some people with Friedreich ataxia may benefit from using an AAC device. Speech therapists offer training and education on AAC. They can help you find the best communication method and learn how to use it effectively.

4. Occupational Therapy

Friedreich ataxia makes many day-to-day tasks difficult. People can struggle with their activities of daily living (ADLs). Occupational therapists step in to help with ADLs like:

• Showering or bathing
• Brushing your teeth
• Dressing
• Using the toilet
• Eating

Occupational therapy focuses on making these tasks easier. Specially trained therapists also teach people how to use adaptive equipment safely. For example, you may need grab bars in your shower or a tool to help you get dressed. Occupational therapists can help adapt tasks and tools to your needs. They’ll help you maintain your independence with ADLs in the safest way possible.

5. Clinical Trials

Drugs can’t get FDA approval without clinical trials (carefully planned studies to test whether a new medicine or treatment is safe and effective). The trials for Friedreich ataxia focus on better ways to treat this disease. Examples include gene therapy and medications targeting mitochondria.

People with Friedreich ataxia have changes or mutations in the frataxin (FXN) gene. This gene gives instructions for making the frataxin protein. This protein is found in the skeletal muscles, which we use for movement, as well as in the brain and spinal cord. Mitochondria (specialized structures inside cells) help produce energy for cells. Frataxin proteins are found in the mitochondria.

In Friedreich ataxia, FXN mutations reduce the amount of frataxin proteins. Cells need these proteins to protect against damaging molecules and for energy production within mitochondria. When frataxin levels are too low, cells become damaged. Additionally, the mitochondria in these cells can’t make enough energy. This combination leads to problems in the muscles, brain, and spinal cord.

Gene Therapy for Friedreich Ataxia

Some clinical trials are studying gene therapy to treat Friedreich ataxia. This condition develops from a single mutation in the frataxin gene. Scientists are working on ways to deliver a healthy version of FXN to replace the mutated version. Cells use this healthy version to make enough frataxin proteins. In theory, gene therapy may fix the frataxin deficiency.

Gene therapy clinical trials are just getting started. Some companies have drugs in phase 1 and phase 2 studies. These early trials look at drug safety in humans. If the trials prove these drugs are safe and effective in treating Friedreich ataxia, they may receive FDA approval.

Vatiquinone

Vatiquinone is another drug under study for Friedreich ataxia. It’s a drug that helps cells and their mitochondria function better. Researchers think inflammation and oxidative stress damage mitochondria and cause cells to die. By blocking these processes, vatiquinone may treat Friedreich ataxia symptoms.

One clinical trial studied vatiquinone versus a placebo in 143 people. The study authors found that people taking vatiquinone improved their mFARS scores more than those taking placebo. However, the benefit was modest and it’s not clear if it was real or just happened by chance. Even though the results were encouraging, the FDA hasn’t approved this drug yet. More studies are needed to figure out whether vatiquinone can help manage Friedreich ataxia symptoms safely.

6. Orthopedic Surgery

Muscle issues in Friedreich ataxia can lead to other skeletal problems, such as scoliosis, a condition where the spine curves sideways instead of running straight down the back, making movement much more difficult.

Treatment for scoliosis usually involves bracing or spine surgery. Studies show that surgery is more effective for managing spine curves in Friedreich’s ataxia, although bracing can play an important role and delay the need for surgery. Surgeons use metal rods and screws to fuse the spine together and correct the abnormal curve.

Foot deformities also cause mobility issues with Friedreich ataxia. In some cases, surgery may be recommended. However, there isn’t much research backing this up as an effective treatment. You may choose to have orthopedic surgery to improve your independence and mobility.

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