Our genes dictate our health in many ways. When working properly, genes encode for the production of various proteins and enzymes throughout the body. So when genes become mutated, health issues can suddenly arise. For example, the FXN gene helps the body to create frataxin, a protein that plays a role in mitochondrial function. FXN gene mutations, which cause Friedreich’s ataxia (FA), mean that the body lacks frataxin; this leads to the disease’s characteristic symptoms.
According to Clinical Trials Arena, a biotechnology company called Larimar Therapeutics (“Larimar”) developed CTI-1601, a recombinant fusion protein to deliver human frataxin to mitochondria. The company believes that once CTI-1601 is processed by the body, it becomes mature frataxin and begins influencing mitochondrial function. They are exploring this idea in a Phase 2 dose escalation clinical trial, for which preliminary top-line results are now available.
13 participants enrolled in this portion of the trial; an additional 24 were treated in other studies for the CTI-1601 development program. Over a month-long period, this patient cohort was split into two groups. Four participants (30%) received a placebo. The remaining nine participants (70%) received 25mg of subcutaneously administered CTI-1601 each day. Treatment was safe and well-tolerated; it also improved frataxin levels in the body. Moving forward, Larimar hopes to further evaluate 50mg CTI-1601.
About Friedreich’s Ataxia (FA)
FA is a rare genetic disease that affects an estimated 1 in every 50,000 people across the country. This inherited ataxia causes progressive movement issues, as well as nervous system damage, beginning in childhood or adolescence. Symptoms typically appear between ages 5-15, though it can happen at older ages (these are considered “late-onset” cases). In the past, treatment was symptomatic and supportive. But Skyclarys was recently approved in 2023 as the first disease-specific treatment.
Symptoms of FA may include:
- Ataxia (impaired muscle coordination)
- Difficulty walking
- Hearing and/or vision loss
- Fatigue
- Loss of reflexes
- Shortness of breath
- Dysphagia (difficulty swallowing)
- Poor balance and coordination
- Chest pain
- Slurred or slow speech
- A loss of sensation in the legs that may spread to the arms or trunk
- Scoliosis
- Heart palpitations
