The collaborative journey of rare disease clinical research

The moment you first notice something is off with your child and consult with your family physician, a journey starts. You hope for a simple explanation, but there are more tests and some dead ends ahead. Obtaining an accurate diagnosis can take months or even years for some families. But eventually, the news comes that no one wants to hear: your child has a rare disease. You’ve just gained admission to an exclusive club that no one wants to join. The world of rare diseases carries feelings of uncertainty, isolation and fear – but there is also hope.

Diseases are classified as ‘rare’ in the United States if they affect fewer than 200,000 people nationally. There are nearly 7,000 types of rare diseases, most of which are caused by genetic mutations. Finding specialists and centers of care with the expertise to diagnose, monitor and treat affected patients can be difficult. However, St. Jude has the expertise to provide care for rare diseases, such as some pediatric cancers, hematologic disorders and neurologic diseases. Combined with the long legacy of clinical trials conducted at St. Jude, that expertise helps shift the landscape of patient treatment. To do so, St. Jude needs the participation of eligible patients who can enroll in open clinical trials that are recruiting.  This is an effort grounded in trust and partnership. 

Rare neurological disease expertise comes to St. Jude

Most physicians rarely, if ever, come across such cases in their entire careers. But an encounter with a patient with a rare disease can awaken a physician’s interest in rare disease research and treatment. Richard Finkel, MD, Department of Pediatric Medicine, recalls such an experience well. Finkel, now the Director of the Center for Experimental Neurotherapeutics (CENT) in the Pediatric Translational Neuroscience Initiative at St. Jude, encountered a patient with a rare neurologic disease some 20 years ago while working at the Children’s Hospital of Philadelphia. He was consulted for his expertise in pediatric neurologic disorders. 

“An orthopedic surgeon asked me to take a look at a child who was sent to the surgeon for an orthopedic evaluation because they walked a little funny, but it was not an orthopedic problem.”  Finkel recognized the signs of a movement disorder and combined with the child’s age and features, he suspected a rare condition called Friederich’s ataxia. His suspicions were confirmed by diagnostic and genetic testing. Finkel recalls, “Once you’ve seen one of these patients, it sort of strikes you in the heart, and you never forget it.” 

Friederich’s ataxia (FA) is an inherited neurodegenerative disease that causes progressive loss of muscle coordination, balance problems, weakness, speech issues, heart problems, and often shortened lifespan. FA affects 1 in 50,000 people and is caused by a genetic mutation in the FXN gene. As for any rare disease, it can be challenging to obtain a diagnosis and explore treatment options because it is so uncommon, and knowledge can be limited. Fortunately, Finkel referred the patient to an expert on this condition to address their needs. 

But the encounter stayed with him, sparking a lifelong interest in movement disorders and research. He believed that FA could be treatable at the genetic level. His quest continues today at St. Jude, where he shepherds the development of new therapeutics to treat rare genetic disorders. 

In a collaboration with Friedreich’s Ataxia Research Alliance (FARA), an FA patient advocacy group, Finkel conducted a clinical research study, Friedreich's Ataxia Clinical Outcome Measures (FACOMS) to learn more about the natural history of FA. The study opened at St. Jude and other participating institutions. The work was recently expanded to a global study called UNIFAI: A Natural History Study of Friedreich’s Ataxia. These studies may also provide a new understanding of other movement and motor disorders’ biology, such as Parkinson’s disease and amyotrophic lateral sclerosis. Finkel continues to seek new ways to promote collaboration and develop meaningful clinical trials for rare diseases.

Recruitment for rare disease clinical research requires teamwork

Finkel’s work with FA is emblematic of how St. Jude is dedicated to rare disease research. St. Jude is a leader in developing clinical trials to treat catastrophic childhood diseases, including rare genetic predisposition syndromes. Eligible patients may be able to participate in clinical research studies through open observational trials that study how diseases evolve to enhance our understanding of rare diseases. Patients may be eligible to receive new treatments if it is a good match for their needs and some trials may even be available closer to a patient’s home through the St. Jude Affiliate Program.

After a patient is diagnosed with a rare disease, their local provider needs to be well-integrated into the referral and treatment process because they are the most attuned to their patient’s medical history and needs. Open, transparent communication and collaboration between the patient, their family, local primary care provider and those conducting the clinical trial is essential for building trust and making informed decisions that will benefit the patient throughout their care journey. Patients should feel free to share their questions with those conducting the trial.

Tracy Dodd, Director of Physician & Patient Referral Services at St. Jude, emphasizes the importance of this foundational, trusting relationship. “Patients’ families should understand that their physicians need to be a part of the referral process because clinical information is exchanged in that interaction,” Dodd expressed. “This ensures we can offer something that will potentially benefit the patient.”  St. Jude can also provide consultations. If there are no alternative services or open clinical trials, patients can obtain care at home and may be directed to other institutions and advocacy groups for potential help.  

Even when St. Jude is the right place for a patient’s care, rare disease management and treatment still requires a unique, elevated form of collaboration between the patient, their primary care physician, advocacy groups, and institutions with the capability and experience to diagnose a condition and deliver expert care and guidance. Many major medical institutions, including St. Jude, offer resources such as multidisciplinary tumor boards, patient support groups, patient advocates, social workers and patient education throughout a patient’s care journey. For patients with rare diseases such as FA, well-established specialty patient groups, including FARA and the National Association for Rare Disorders (NORD), can provide support, awareness and advocacy to develop an avenue for new treatments. 

The goal of developing new therapeutics to treat rare diseases can be incredibly complex and challenging. But as patients, physicians, researchers and advocates join forces, they demonstrate the courage, perseverance and commitment to make new treatments for rare diseases a reality.