PolicyRSS5 days ago
Doctors are now recommending that all ALS patients get genetic testing to understand if their disease is inherited. A genetic counselor is a specialist who helps explain what these test results mean and how they might affect family members. Understanding your genetic information can help you and your doctor make better decisions about your care and family planning.
WHY IT MATTERSIf you have ALS, genetic testing and counseling can reveal whether your condition is hereditary, which affects whether your relatives should be screened and what treatment options might work best for you.
AdvocacyRSS5 days ago
Three organizations that work with facioscapulohumeral muscular dystrophy (FSHD) patients are joining together to make clinical trials better. FSHD is a rare muscle disease that causes weakness in the face, shoulders, and upper arms. This partnership wants to improve how these trials are designed so they can test new treatments more effectively.
WHY IT MATTERSBetter-designed clinical trials mean faster progress toward treatments for FSHD, and patient input through the FSHD Society ensures trials are structured in ways that actually work for people living with the disease.
AdvocacyRSS5 days ago
A patient-led nonprofit called The Speak Foundation has created a network of specialized clinics called LGMD Centers of Excellence to help people with limb-girdle muscular dystrophy (LGMD), a rare muscle disease. This new network aims to solve a major problem: patients with LGMD have had trouble getting consistent care and doctors have struggled to develop new treatments because the patient population is very small and spread out.
WHY IT MATTERSThis coordinated clinic network could help LGMD patients access specialized care in one place and speed up the development of new treatments by making it easier for researchers to find and study patients.
AdvocacyRSS5 days ago
Delphine Andrews, a life coach and disability advocate from North Carolina who lives with SMA (spinal muscular atrophy), shared her personal story in a podcast interview. She discussed how she learned to accept herself, help others with disabilities, and build a career as a life coach. The episode also covered important topics like managing caregivers and understanding how different parts of someone's identity intersect.
WHY IT MATTERSHearing from someone living with SMA about practical strategies for self-acceptance, caregiver management, and career transition can help newly diagnosed patients and families navigate similar challenges in their own lives.
PolicyRSSApr 20
The FDA announced it has completed its first year of goals to reduce the use of animals in drug testing. The agency launched several new programs to replace animal testing with alternative methods that are often faster and more accurate. This shift means new medicines can be developed and tested in ways that don't require testing on animals.
WHY IT MATTERSFaster, more reliable drug testing methods could accelerate the development and approval of treatments for rare diseases, potentially bringing new therapies to patients years sooner than traditional animal testing timelines allow.
PolicyRSSApr 16
The FDA is inviting companies that make testosterone replacement therapy drugs to apply for approval of a new use: treating low sex drive in men with a specific condition called idiopathic hypogonadism (when the body doesn't make enough testosterone for unknown reasons). This is an early step that could lead to new treatment options for men with this condition.
WHY IT MATTERSMen with idiopathic hypogonadism who experience low libido may soon have an FDA-approved treatment option specifically designed for this symptom, rather than relying on off-label use of existing testosterone therapies.
PolicyRSSApr 14
The FDA released new guidelines to help companies develop gene therapy treatments that use genome editing—a technology that can fix or change faulty genes. These guidelines explain what safety information and testing companies need to provide before the FDA will approve their treatments. This is meant to make it clearer and faster for companies to develop new gene therapies for patients with genetic diseases.
WHY IT MATTERSThis guidance establishes the regulatory pathway that will determine which genome editing therapies can reach patients, potentially accelerating approval timelines for rare genetic diseases currently lacking treatment options.
PolicyRSSApr 13
The FDA sent reminders to over 2,200 companies and research groups telling them they must share their clinical trial results on a public website called ClinicalTrials.gov. This is a requirement, not optional. The FDA is making sure that information about how medical treatments work—whether they help patients or cause problems—gets shared publicly so everyone can see the results.
WHY IT MATTERSWhen companies hide negative trial results, patients may not know the full picture about whether a treatment actually works, which could affect decisions about whether to participate in a trial or use a medication.
PolicyBIORXIVApr 10
Researchers created a standard naming and classification system for rare diseases to help doctors and scientists share information more easily across different countries. Right now, rare diseases aren't well organized in medical databases, which makes it hard to collect data and help patients. This new system aims to fix that problem so patients can be recognized and tracked better worldwide.
WHY IT MATTERSStandardized rare disease terminology means your diagnosis is more likely to be recognized consistently across different hospitals and countries, improving your chances of being included in research studies and getting accurate care.
PolicyRSSApr 3
The FDA announced new steps to make it easier and faster for companies to develop biosimilar medicines. Biosimilars are drugs that work like existing biologic medicines but are made differently and cost less. These changes could help more affordable versions of expensive biologic drugs reach patients sooner.
WHY IT MATTERSPatients with rare diseases who depend on expensive biologic treatments may gain access to more affordable biosimilar options, potentially reducing out-of-pocket costs and improving treatment accessibility.
PolicyRSSApr 3
The FDA released new guidelines to help drug companies test medicines using human-based methods instead of animal testing. These new testing approaches could make it faster and safer to develop drugs by using data that better reflects how humans respond. This is part of the FDA's effort to bring effective treatments to patients more quickly.
WHY IT MATTERSPatients with rare diseases could gain access to new treatments faster if drug developers can use these human-centered testing methods instead of spending years on animal studies.
PolicyRSSApr 3
The FDA is holding a public meeting to get feedback from patients, doctors, and companies about a pilot program called the Commissioner's National Priority Voucher. This program is designed to speed up the development of drugs for diseases that are considered national health priorities. The FDA wants to hear what people think about how the program is working and how it could be improved.
WHY IT MATTERSIf you have a rare disease, this meeting could influence which diseases the FDA prioritizes for faster drug development in the future—your input or your disease community's input could help shape which conditions get expedited attention.
PolicyRSSApr 3
The FDA created a new online tool called the FDA Adverse Event Monitoring System (AEMS) that makes it easier for people to look up safety reports about medicines and medical devices. This tool brings together information from different FDA databases into one place so patients and doctors can see what side effects or problems have been reported. The FDA says this is an important step toward being more transparent and honest about drug and device safety.
WHY IT MATTERSPatients with rare diseases can now directly search for safety reports on their specific medications and medical devices without waiting for their doctor to look it up, helping them make more informed decisions about their treatment.
PolicyRSSApr 3
The FDA met with several states to discuss a program that lets states and Native American tribes buy prescription drugs from Canada at lower prices and bring them into the United States. This program, called section 804 importation, is designed to help Americans afford their medications. The meeting focused on how this program works and how states can participate.
WHY IT MATTERSPatients with rare diseases who take expensive prescription medications may be able to access more affordable versions of their drugs through this importation program, potentially reducing their out-of-pocket costs significantly.
PolicyRSSApr 3
The FDA is asking for public input on new rules for how people should safely throw away unused opioid medications at home. Right now, there aren't clear standards for these disposal products, so the FDA wants to hear from patients, doctors, and companies about what would work best. This could help prevent accidental poisoning and drug misuse.
WHY IT MATTERSPatients taking opioids for chronic pain or rare disease-related conditions need safe ways to dispose of leftover medications to protect their families and communities from accidental overdose.
PolicyPUBMEDApr 1
A European network for rare connective tissue diseases has created a new model where patients are treated as equal partners in research and care decisions. Instead of doctors alone deciding what to study and how to treat patients, this network includes patients in every step—from identifying problems to writing research papers together. This approach helps address long diagnostic delays and gaps in care that patients with these rare diseases often face.
WHY IT MATTERSPatients with rare connective tissue diseases can now directly influence research priorities and treatment approaches through structured partnership roles, rather than having decisions made without their input.
PolicyPUBMEDApr 1
Researchers compared how quickly rare disease drugs become available in China versus the United States between 2001 and 2024. The study looked at a problem called 'drug loss' — when medicines are approved in the US but never reach Chinese patients — and 'drug lag' — when there's a long delay before Chinese approval. The findings help the Chinese government understand what's blocking patients from getting treatments that already exist elsewhere in the world.
WHY IT MATTERSIf you have a rare disease in China, this research directly impacts whether you can access treatments that may already be approved and available in the United States, potentially identifying barriers your doctor or patient advocacy groups can help address.
AdvocacyPRESS RELEASEMar 26
NORD and OpenEvidence announced a partnership to create AI-powered tools that help doctors and patients find reliable information about rare diseases. These tools will use artificial intelligence to organize and review medical information, making it easier for people with rare diseases to access trustworthy resources and get better care.
WHY IT MATTERSThis partnership expands access to expert-reviewed rare disease information through AI technology, potentially helping patients with any rare disease find accurate medical resources and connect with specialists more easily.
AdvocacyPRESS RELEASEMar 26
The National Organization for Rare Disorders (NORD), a major patient advocacy group, announced new leadership positions focused on policy and government relations. These appointments aim to strengthen NORD's efforts to influence laws and policies that affect people with rare diseases. The moves show NORD is expanding its work to advocate for patients at the federal and global levels.
WHY IT MATTERSStronger policy leadership at NORD means patients with rare diseases will have more powerful advocates working directly with Congress and government agencies to push for faster drug approvals, better insurance coverage, and increased research funding.
AdvocacyRSSMar 26
The National Organization for Rare Disorders (NORD), a major patient advocacy group, announced new leadership positions to strengthen its work in rare disease policy. Michael J. Beard was appointed as Vice President of Federal and Global Public Affairs. These leadership changes are designed to help NORD better represent patients' interests in government and international discussions about rare diseases.
WHY IT MATTERSStronger NORD leadership in policy and advocacy can directly influence which rare diseases get research funding, how quickly new treatments are approved, and what insurance coverage looks like for rare disease patients.