Clinical trials lead to better treatments for rare diseases

People living with rare diseases often find themselves with more questions than answers when it comes to diagnosis and treatment. Symptoms can be unclear, making misdiagnoses common. This is often the case for people living with WHIM syndrome—a rare and difficult-to-diagnose disorder in which the body’s immune system does not function properly. Most people with WHIM syndrome are initially misdiagnosed, and if you don’t have the right diagnosis, you can’t find the right treatment.

As researchers and scientists make strides in discovering new genetic mutations behind certain diseases, diagnoses are getting more accurate and treatments more personalized. A personalized treatment means that doctors can move away from giving the same medicine to everyone and instead provide the right medicine at the right dose at the right time to each individual patient. But according to the National Institutes of Health, the fact remains that more than 90 percent of the approximately 7,000 rare diseases still do not have approved treatments.

Genetic testing and clinical trials (research studies) help researchers and scientists drive progress forward. For some people, a genetic test may simply be a matter of curiosity, the results of which will not alter their life. For people living with a rare disease, genetic testing can provide answers that shift the course of their treatment and help determine what clinical trials may be available for them.

Clinical trials help researchers find new treatments and get them approved. Researchers are looking into potential new treatments through clinical trials, including the 4WHIM clinical trial, which is now enrolling people living with WHIM syndrome.

The 4WHIM trial will help researchers:

  • Learn more about the effectiveness of an investigational medication called mavorixafor for people with WHIM syndrome.
  • Find out if mavorixafor can treat neutropenia, a condition caused by low levels of certain white blood cells. Neutropenia is common in people living with WHIM syndrome, making it hard for them to fight off infection.
  • Gather information needed to get a potential new treatment approved by the FDA.

Who Is Eligible to Join the 4WHIM Clinical Trial?

Individuals who:

  • Are over 12 years old
  • Have a diagnosis of WHIM syndrome
  • Have a low neutrophil count, and
  • Meet other requirements, which your doctor can explain

“If you are living with severe neutropenia, make sure to talk to your physician about getting genetic testing to see if the 4WHIM Clinical Trial is an option for you,” says Frank Firkin, MD, PhD, University of Melbourne Department of Medicine, St Vincent’s Hospital, Melbourne, Australia.

There is no cost to join the 4WHIM clinical study. The 4WHIM Trial is being conducted at multiple medical centers around the world. You do not need to live near a study site to participate in the 4WHIM Trial. For some study participants, visits can occur at home through video calls and home visits. If you need to travel to a study site, the study sponsor, X4 Pharmaceuticals, will pay for travel and lodging. To learn more, visit the study website at

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