Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.
Drug development for any condition is a complex, expensive and slow process. And as many in the rare disease community know, these existing challenges can be even more complex for conditions that are rare or ultra rare. AllStripes is seeking to meet those challenges head on.
Let’s start with the obvious. Although the definition of a rare disease in the U.S. is a condition that affects fewer than 200,000 people, most rare diseases affect far fewer people.
Why is having a small number of patients a disadvantage when it comes to clinical trials? In the world of clinical studies, the gold standard is randomized clinical trials. In a randomized clinical trial, participants are randomly assigned to either an experimental or a control group to eliminate any population bias. It is considered the most effective way to find out if there is a cause-and-effect relationship between a drug intervention and an outcome.
Studies for rare diseases have smaller patient populations to recruit from and randomized trials are not always an option. Researchers may have to find the next best alternative for clinical trial design, however this is also an opportunity for creative approaches and collaboration.
For example, at AllStripes we are working toward a future where quality natural history studies may be able to take the place of a control group. Reducing the need for placebo control would mean that more patients could access the trial drug, something we know is important to many people in the rare community.
The challenges of having a limited number of patients extend to researchers’ existing knowledge of a condition. In some cases, even the top experts in the world with knowledge of a given rare disease may not know enough about the natural progression to make fully informed recommendations on what to track in a trial or how a trial should be designed.
The few clinical experts who know each rare condition deeply, combined with the limited knowledge available on the condition makes it difficult to jumpstart research in a given condition, even if patients and communities are driven and well organized. This again points to the need for efforts like AllStripes’ to recruit, organize and structure as much available data on a given rare disease as possible, to help fill in those gaps of knowledge.
Even when patients are able to participate in a rare disease trial, there is the challenge of disease heterogeneity, meaning differences in the disease in terms of how it affects different patients. This range of differences can be seen in symptoms, severity, progression or exposure to prior treatment.
About 80% of rare diseases are genetic disorders and many have a wide range of disease heterogeneity. These many “versions” of a disease present a challenge in deciding how to measure the outcome of a drug trial.
About 50% of rare diseases affect pediatric populations (birth to 16 years of age). Research in pediatric populations is unique because children are under the care of parents or guardians and cannot give consent by themselves.
Researchers also need to take on additional ethical considerations and restrictions for pediatric populations. For example the use of certain procedures may be okay for research with adults but not for children.
Protections for children involved in research are unquestionably critical, but add another layer of consideration when a team is designing a treatment trial.
Standardization of data is a challenge faced by all clinical trials, not just in trials that involve rare diseases.
However, due to the limited number of patients in rare disease clinical trials, it is even more crucial to standardize the collection and handling of data in such studies. AllStripes’ work to with de-identified medical data from rare disease patient records could be a big step forward for researchers facing this challenge, and we take on maintaining the data as well by keeping it up to date each year.
There is some good news, we promise! In recent years, we’ve seen a growing effort to address some of the challenges in developing drugs for rare diseases. Below are some of the highlights.
The Orphan Drug Act (ODA) was created in 1983 to encourage the development of drugs for rare diseases by making sponsors eligible for certain financial incentives. Before the ODA, less than one drug a year was approved for rare diseases in the U.S. Decades later, in 2018 there were 35 novel drugs and biologics approved in 2018 with orphan drug designation.
The ODA provides certain financial benefits to incentivize more companies in the space of rare disease drug research. Incentives associated with orphan drug designation include the following:
Due to the need for more research in the area of rare diseases, the U.S. Food and Drug Administration (FDA) provides some flexibility in applying regulatory standards to this group. Take for instance the kind and quality of data. The FDA uses scientific judgment to determine if the data provided by a rare disease study is sufficient.
Since many rare diseases are life-threatening with unmet medical needs, the FDA has made it possible for sponsors to apply for certain expedited programs if they qualify. Such programs include fast-track designation, breakthrough therapy designation, priority review designation and accelerated approval.
In addition to making rare diseases more appealing for drug companies to work on, there have been new efforts to collaborate across the rare-disease space and share knowledge. We will continue to highlight efforts that are working to address these challenges and celebrate all who endeavor to collaborate more actively for rare disease patients.
As more and more patients join AllStripes, we are excited to grow a truly robust source of real-world evidence for rare conditions that can be accessed freely by academic researchers and is never exclusive to any one company. To learn more visit allstripes.com.
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List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.
It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.
It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.
The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.
There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.
The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.
We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.
It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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