Updated January 17th, 2024

New Hope For Devastating Rare Disease Sufferers like Celine Dion— Government Issues New Guidelines To Speed Development

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Dealing With Rare Disease & Speeding Up Drug Development

The US Food and Drug Administration (FDA) recently issued a finalized guidance on drug development programs for rare diseases. Now rare disease sufferers like singer Celine Dion, who is battling a rare neurological disorder called stiff-person syndrome (SPS), have another reason to be hopeful.
Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers.
More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
The SurvivorNet Clinical Trial Finder and websites called Clinicaltrials.gov and PubMed are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease.
Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.

Rare disease sufferers like “Queen of Power Ballads” Celine Dion, who is battling a rare neurological disorder called stiff-person syndrome (SPS), have another reason to be hopeful for as the the US Food and Drug Administration (FDA) recently issued a finalized guidance on drug development programs for rare diseases.

The final guidance was issued on Dec. 26, 2023 and works to help orphan drug sponsors. Regulatory Focus explains the guidance entails information on “nonclinical pharmacology and toxicology, trial design and endpoint selection, the evidence standard for establishing safety and effectiveness, and drug manufacturing issues.”

Agency officials explained in the final guidance, “The purpose of this guidance is to assist sponsors of drugs for the treatment of rare diseases in conducting efficient and successful drug development programs. The statutory requirements for marketing approval for drugs to treat rare and common diseases are the same and issues discussed in this guidance are encountered in other drug development programs.

“These issues are frequently more difficult to address in the context of a rare disease for which there is often limited medical and scientific knowledge, poorly understood natural history data, sample size constraints, and lack of drug development experience.”

The officials continued, “Many rare diseases are serious conditions with no approved treatments, leaving substantial unmet medical need for patients. FDA recognizes that rare diseases are highly diverse with varying prevalence, rates of progression, and degrees of heterogeneity that can affect both clinical manifestations and disease courses even within a condition.

“Further complexity is added depending on what is known about a disease’s natural history and pathophysiology. As such, no one program can be designed exactly like another. FDA is committed to helping sponsors create successful drug development programs that address the particular challenges posed by each disease and encourages sponsors to engage early with the Agency to discuss their drug development program.”

Regulatory Focus also points out how the guidance offers information on severely debilitating or life-threatening rare diseases (SDLTs) and nonclinical flexibilities, external controls and prevalence estimates, and patient input and pediatric considerations.

As for SDLTs and nonclinical flexibilities the FDA officials state, “For products being developed for SDLT rare disease indications, clinical investigations can often proceed with modifications to the typical nonclinical development programs described in guidance.

“The degree of flexibility afforded to such programs may depend on a variety of factors, such as the adequacy of current treatment options, the mechanism of the drug, the safety findings from the available data, and the expected rate of progression to mortality or irreversible morbidity.”

As for external controls and prevalence estimates, the FDA writes in the guidance, “The suitability of an externally controlled clinical investigation design warrants a case-by-case assessment, and early discussion with the relevant review division is recommended.”

With regard to patient input and pediatric considerations hopes to motivate orphan drug sponsors to include patients, advocates, and caregivers in the drug development process.

The guidance states, “Patient input can provide important information about patients’ experiences, perspectives, needs, and priorities that can be incorporated throughout the drug development process.

“This engagement can take many forms, such as providing solicited consultation on scientific issues (e.g., clinically meaningful treatment effects), working with industry sponsors as they design and conduct clinical investigations, and contributing to patient-focused drug development initiatives.”

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The final guidance ultimately replaces a 2019 graft guidance, with some changes, like in its section natural history.

With regard to additional considerations related to clinical development for rare disease, officials write that the FDA welcomes sponsors of drugs to “discuss their overall plans for maximizing the quantity and quality of safety and efficacy data in early drug development meetings with FDA,” which may include the following approaches:

Decentralized clinical investigations
Natural history
Clinical investigation eligibility
Dose selection
Comparator arm
Clinical investigation conduct and data quality
Auxiliary cohorts

Have a Rare Disease? Here are Some Resources

All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.

Academic Centers and Comprehensive Care Centers

For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.

In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a “comprehensive cancer center” from other treatment providers.

Seeking Care at a Comprehensive Cancer Center

“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services, and also wonderful pathology and radiology.”

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Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.

“We call it a tumor board, a group to go through all the details of your case so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”

Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder

Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment )or trying to find specialists) is clinicaltrials.gov, a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.

Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.

Clinical Trials Can be Life-Saving for Some

Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.

By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.

And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.

To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.

“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”

PubMed

Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals, and online books.

If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.

Newly-Developed Drugs

For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases.

The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.

Compassionate Use and Off-Label Use

Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.

Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.