When a disease impacts the life of less than 1 in 2000 people, it’s considered a rare disease. According to Rare Disease Day, over 6000 different rare diseases have been identified, with around 70% being genetic and starting in childhood. These factors alone contribute to the wide diversity of challenges faced by individuals impacted by rare diseases. Additional obstacles include a lack of information about rare diseases, limited research opportunities and different barriers to accessing treatment.
These challenges are particularly evident in the clinical trial journey for patients with rare diseases, where issues such as understanding eligibility criteria and managing the complexities of trial logistics can add to the difficulty. For many, clinical trials represent their best chance for access to life-changing treatments, but the path to participating in these trials can often seem overwhelming.
At mdgroup, we are dedicated to supporting rare disease patients at every step of their clinical trial journey, ensuring they have the resources, guidance, and tools they need to make the experience as smooth, informed, and empowering as possible.
The unique challenges of rare disease clinical trials
Rare diseases are conditions that affect a small number of people, which can make finding enough participants for clinical trials a major challenge. These diseases are often diverse in symptoms, progression, and available treatment options, creating a complex landscape for both researchers and patients. The diseases also often consist of common symptoms and that way hide behind more prevalent diseases – resulting in unfortunate misdiagnosis.
Furthermore, due to the rarity of these conditions, many patients live in remote areas, far from specialised research centres, which makes participation in traditional, centralised clinical trials even more difficult. On top of that, since only 3.5-5.9% of the world’s population is living with rare diseases, the likeliness of others with the same disease being based abroad is very high.
The clinical trial process can be overwhelming for patients, especially when navigating studies for conditions that have limited treatment options. The trials themselves can be lengthy, require frequent visits to trial sites and demand strict adherence to protocols -adding to the stress and uncertainty that patients and their families often experience.
How to support people affected by rare diseases
Supporting people affected by rare diseases requires a multifaceted approach – one that addresses the medical, emotional, and logistical challenges they face. First, raising awareness is crucial.
Days like Rare Disease Day play an important role in bringing attention to the plight of those living with rare conditions. Observed annually and globally on the last day of February, Rare Disease Day aims to highlight the challenges patients face and promote awareness about the importance of early diagnosis, research, and better treatment access. By building awareness through community events and raising our voices, we reduce stigma, increase understanding, and help ensure that patients receive the recognition and care they need.
Rare Disease Day is a wonderful opportunity to stand together and support people with rare diseases. By taking part in the Global Chain of Lights and Sharing Your Colours, you can amplify the voices of those living with rare conditions and show your solidarity by lighting up for rare.
How we help amplify voices
At mdgroup, we have also participated in Rare Disease Days to help raise awareness and advocate for rare diseases in many ways. Some of our team members have told their touching personal stories of living with rare diseases and how their careers have been inspired by the impact of a rare disease has had on thee whole family. The team has also described their passionate commitment to go above and beyond to support patients and shared stories from patients we have provided remarkable experiences on every stage of their clinical journeys.
One of the powerful stories we’ve shared is from Jennifer Kinnebrew, a Paralegal at mdgroup, whose son Nathan, has been living with a rare condition. You can read the original story of their family here. We recently reached out to Jennifer to see how Nathan is doing today.
Jennifer, can you share more about the rare disease that affects Nathan?
“Nathan has been affected by multiple rare ocular conditions, including Bilateral Optic Nerve Colobomas, Nystagmus, Retinoschisis, and Foveal Hypoplasia. Most recently, he was also diagnosed with an unnamed pathogenic genetic variant, adding another layer of uncertainty to his medical journey. These conditions impact his vision and require ongoing monitoring and specialized care. Like many rare disease patients, Nathan’s journey has been filled with challenges, but also moments of resilience and hope.”
How is Nathan doing now?
“Despite the obstacles he faces, Nathan continues to navigate his world with incredible strength and determination. With the support of his family, medical specialists, and his own perseverance, he is learning new ways to adapt. Every day presents new challenges, but also victories—big and small—that highlight his resilience. His progress reminds us all of the importance of support networks and specialized care for individuals with rare diseases.”
What would you like to tell others about raising awareness for rare diseases, especially in terms of how it impacts families on a personal level?
“Living with a rare disease affects every aspect of a family’s life. The uncertainty, the constant search for answers, and the emotional and financial burdens can be overwhelming. However, raising awareness is crucial—not only for funding research but also for fostering a community of understanding and support. Rare diseases may be individually uncommon, but collectively, they impact millions worldwide. Awareness leads to better resources, earlier diagnoses, and more inclusive support systems for families like ours.”
What advice would you give to other parents or families who are just beginning their journey with a rare disease diagnosis?
“You are not alone. When faced with a rare disease diagnosis, it’s easy to feel isolated, but there are communities and resources available to help you navigate this journey. Seek out support groups, connect with advocacy organizations, and never hesitate to ask questions. Being proactive in your child’s care, educating yourself about the condition, and advocating for their needs can make a significant difference. And most importantly, celebrate every milestone—no matter how small—because every step forward is a victory.”
Is there a particular message you’d like to share this Rare Disease Day 2025 about Nathan’s journey and the importance of rare disease awareness?
“This Rare Disease Day, we want to emphasize the power of awareness and advocacy. Nathan’s journey, like so many others, highlights the importance of continued research, early diagnosis, and strong support systems. Every story shared helps shed light on the struggles and triumphs of those living with rare diseases. By standing together, we can push for better treatments, greater understanding, and a world where no family feels alone in their fight.
Nathan’s strength inspires us every day, and we hope that by sharing his story, we can help build a future where rare diseases receive the attention and resources they deserve.”
While awareness is essential, it’s only the first step. The journey for rare disease patients can often be long and uncertain, particularly when it comes to clinical trials. Participating in clinical trials offers hope for new treatments but can be a complex, overwhelming process. Support systems need to be in place to help patients navigate trial eligibility, logistics, and emotional hurdles.
mdgroup providing remarkable patient experiences
At mdgroup, we believe that happy patients result in efficient trials. We provide comprehensive services that include everything needed to support patients during their clinical trial journeys. By offering personalised resources tailored to rare disease patients and their caregivers, we ensure that they are well-prepared and supported at every step, making the clinical trial process smoother and less daunting.
We are proud to improve inclusivity by breaking down accessibility barriers for people living with rare diseases. Rare disease clinical trials can be long-term commitments, often involving complex logistics that may be difficult for patients to manage, especially if they live far from trial sites.
Whether it’s travel and logistics, payments and reimbursements, decentralised and hybrid trial visits, site analysis and management, healthcare staffing, or equipment distribution, we support trials and patients to success. Our all-around services ensure seamless patient experiences during clinical journeys, where ongoing participation and retention are crucial for success.
Last year for Rare Disease Day, our Senior Global Project Manager, Brittany Haltzman-Cassenti, shared a patient story that highlighted her commitment to going above and beyond. When a young patient with a rare disease faced an urgent transport challenge, Brittany quickly coordinated to ensure the patient’s custom wheelchair was delivered before an approaching snowstorm. Her swift action relieved the family of unnecessary stress and ensured the patient’s mobility needs were met.
At mdgroup, we’re proud to provide exceptional patient care, just like Brittany did for this family – you can read the full story here.
3 examples of how mdgroup has directly supported rare disease patients’ participation in clinical trials and access to treatment:
One-year-old patient’s challenging journey across the globe – overcoming cultural, geographical and financial barriers
A one-year-old patient with the rare disorder Leukocyte Adhesion Deficiency (LAD) travelled from India to California for a life-changing clinical trial. Despite significant challenges – long-distance travel, cultural differences, and financial strain- mdgroup provided essential support to the young patient and their family.
Read the full case study to see how we made this extraordinary journey possible here.
mobilehealth enabling participation in rare disease clinical trial from the comfort of patients’ homes
mdgroup enabled patients with a rare disease, Friedrich’s Ataxia, to participate in a hybrid clinical trial from home by performing complex blood sample procedures remotely. We trained healthcare professionals to isolate PBMCs at participants’ homes, ensuring sample integrity and high-quality data, resulting in zero dropouts and positive patient experiences.
Read the full case study to learn more about this innovative approach here.
Making participation in a global rare disease study as accessible as possible for participants and sites
mdgroup is currently supporting a global ALS study across 15 countries, where mobility challenges mean participants are in remote locations. We’re completing up to 250 mobile health visits a month, using a tailored mobile health service and travel support to ease the burden for patients.
The scale and complexity of this study have required innovative solutions and seamless coordination, leading to over 1000 successful visits so far, low participant dropout rates, and high-quality data.
Read the full case study to learn how we are making it work here.
Advocacy starts with empathy
At mdgroup, we believe advocacy starts with empathy. We are dedicated to supporting rare disease patients at every step of their clinical trial journey, ensuring they feel understood and empowered. By providing personalised resources and simplifying complex logistics, we reduce the barriers patients face, making the clinical trial process smoother and less overwhelming. Our services are designed to facilitate participation, helping patients feel more engaged and supported, which leads to better retention and improved outcomes.
Discover how we can support and ensure success at every stage of the clinical trial.
