Rare Disease Clinical Trials Are Essential to Help Uncover Potential Patient Solutions: Spotlight on Classic Congenital Adrenal Hyperplasia (CAH)

Acknowledgment: This story is sponsored by Neurocrine Biosciences and is promoted through the Patient Worthy Collaborative Content program. We only publish content that embodies our mission of providing relevant, vetted, and valuable information to the rare disease community.

Classic congenital adrenal hyperplasia (CAH) occurs in about one of every 15,000 births, according to the National Organization for Rare Disorders (NORD), and can lead to significant illness in infants and problems with normal growth and development during childhood due to both the disease as well as treatments used for the condition. Patients, both children and adults, are being called upon to consider participating in clinical research trials. Without patient volunteers, groundbreaking research and potential solutions can’t move forward. Trial participants are the key to a better tomorrow for both themselves and for others living with these conditions.

By engaging both pediatric and adult patients with classic CAH due to 21-hydroxylase deficiency, which is responsible for approximately 95% of CAH cases (via NORD), researchers can learn more about the disease and develop potential treatment options for patients with CAH. Neurocrine Biosciences is conducting trials in pediatric and adult CAH patients (trials for CAH) to better understand whether a novel therapy could become a potential treatment option for individuals with CAH. These trials could potentially help support regulatory filings to seek FDA approval for broad use by patients with CAH if the therapy is demonstrated to be safe and effective. To learn more, visit TrialsforCAH.com.

As an industry, we’ve come a long way in acknowledging the importance of rare disease research and identifying its urgency. Looking back to the 1960s and 1970s, rare diseases were referred to as “orphan diseases” mainly due to a myriad of challenges in studying and developing treatments for conditions that affected a smaller number of individuals. It wasn’t until the Orphan Drug Act of 1983 that a framework was established to facilitate the development of drugs for these indications (via National Institutes of Health).

Today research is in full force, with the biopharmaceutical industry working to address rare diseases. However, study sizes for these types of clinical trials are a fraction of those for more well-known trials, like ones that are researching widespread illness such as the flu or COVID-19, or trials for conditions that affect many individuals. Since those illnesses ultimately impact the entire world, the size of the patient pool is obviously greater. Yet, rare disease clinical trials are still essential, and patients are needed every day to advance clinical research and bring attention to these conditions. In fact, together, more than 25 million Americans have a rare disease, and more than 90% of rare diseases have no FDA-approved treatment (via NORD).

With that said, for all diseases, each clinical trial is unique with varying guidelines, and it’s up to the patient and/or their caregiver to decide if it’s suitable. Clinical trials need to fit a patient’s lifestyle, and there are several factors to consider, including time commitments and convenient access to a research site. Patients also must review study requirements and determine whether they can take part. Oftentimes, an online assessment form can be found on the study’s website to help with this process.

Patients’ willingness to participate in clinical trials is the driving force for life-changing research and treatment options. Before pursuing next steps, it’s important to consult with your doctor to determine if a particular opportunity is the right fit, while considering any and all information that is available.


PW Collaborator

PW Collaborator

Our mission is to amplify the rare condition voice. One of the ways we achieve that is through collaborations across the community, from patients and caregivers to industry leaders in treatment research and development. To learn more, click here.

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