Category: Rare Diseases

FDA, Pharmaceuticals, Rare Diseases

FDA Extends Review for Livmarli’s Expanded Approval, Impacting Mirum Pharmaceuticals

The Food and Drug Administration (FDA) recently made a significant announcement regarding the Supplemental New Drug Application (sNDA) for Mirum Pharmaceuticals’ innovative product, Livmarli (maralixibat). Livmarli is intended for the treatment of patients suffering from cholestatic pruritus associated with progressive familial intrahepatic cholestasis (PFIC). In a strategic move, the FDA has opted to extend the Prescription Drug User Fee Act (PDUFA) date to allow for a thorough review of a submission that was in response to a major FDA information request. This extension has pushed the decision date from December 13 to March 13, 2024, indicating a rigorous evaluation process. Continue reading FDA Extends Review for Livmarli’s Expanded Approval, Impacting Mirum Pharmaceuticals

Ann Poorboy
FDA, Rare Diseases

The FDA’s Regulatory Calendar in Full Swing, Featuring High-Stakes Decisions

In the world of pharmaceuticals and biotechnology, the FDA’s schedule is accelerating rapidly, with a series of pivotal action dates slated for the next two weeks. These critical decisions encompass groundbreaking cancer treatments, sought-after therapies for rare pediatric disorders, and more. Here’s an overview of the notable developments on the horizon. Continue reading The FDA’s Regulatory Calendar in Full Swing, Featuring High-Stakes Decisions

Ann Poorboy
Rare Diseases

Unlocking Hope: Advancements in Huntington’s Disease Research and Treatment

The Huntington Study Group (HSG), a nonprofit of dedicated researchers and clinicians specializing in HD, conducts crucial clinical trials. They are implementing virtual tools to reduce the participation burden and expand study outreach. Despite the approval of chorea management drugs, a disease-modifying therapy remains elusive, casting a shadow on the HD community’s hope. However, gene therapy initiatives offer optimism. Continue reading Unlocking Hope: Advancements in Huntington’s Disease Research and Treatment

Ann Poorboy
Pharmacy, Rare Diseases

Optimizing Treatment Strategies: Polypharmacy and Maintenance Therapy in AAV Clinical Remission

It’s essential for clinicians to remain responsive to evolving evidence, especially considering the likelihood that our current methods for inducing and maintaining remission will become outdated as newer therapeutics emerge. The decision to discontinue maintenance therapy in AAV should be based on a careful evaluation of individual patient factors and the best available scientific evidence.
Continue reading Optimizing Treatment Strategies: Polypharmacy and Maintenance Therapy in AAV Clinical Remission

Ann Poorboy
Hospital, Rare Diseases, Unmet Medical Need

Dying from a Broken Heart: Understanding Broken Heart Syndrome

Despite progress in understanding the relationship between emotions and heart health, there remains an unmet medical need in effectively preventing and treating broken heart syndrome. As a rare and complex condition, further research is needed to identify high-risk individuals and develop targeted interventions. Bridging the gap between emotional well-being and cardiovascular health remains a crucial challenge, and addressing this unmet need could significantly improve the quality of life for those affected by this condition. Continue reading Dying from a Broken Heart: Understanding Broken Heart Syndrome

Ann Poorboy
FDA, Rare Diseases

FDA Announces Pilot Program For the Development of Rare Disease Therapies

The application period for the START program will run from January 2, 2024, to March 1, 2024. Selection of participants will be based on the readiness of their applications and their ability to advance their development programs toward a marketing application. The FDA plans to select up to three participants for each center. After evaluating this pilot and gathering feedback from selected sponsors, the agency may consider a second iteration, with announcements in the Federal Register. Continue reading FDA Announces Pilot Program For the Development of Rare Disease Therapies

Ann Poorboy
Rare Diseases, Research

A Breakthrough in Treating Complex Neurological Disorders: The Promise of Granulocyte Colony-Stimulating Factor (G-CSF)

As we delve deeper into the intricate mechanisms of the immune system and neurological disorders, cases like this provide a glimmer of hope for patients facing daunting medical challenges. The potential of G-CSF as an immunomodulatory therapy offers new possibilities for those living with complex conditions that were once considered difficult to treat. Continue reading A Breakthrough in Treating Complex Neurological Disorders: The Promise of Granulocyte Colony-Stimulating Factor (G-CSF)

Ann Poorboy
Rare Diseases, Research

Breakthrough Study Shows Promising Alternative for Sickle Cell Disease Treatment

Study offers a ray of hope for SCD patients, highlighting the potential for alternative treatment options in the absence of a matched donor. The remarkable success of the reduced toxicity protocols employed in this study may pave the way for improved transplant strategies, ultimately enhancing the quality of life for those suffering from this debilitating disease. Continue reading Breakthrough Study Shows Promising Alternative for Sickle Cell Disease Treatment

Ann Poorboy