A review highlights the potential of AAV9 vectors in gene therapy for inherited CNS diseases, building on the success of Zolgensma for spinal muscular atrophy. The International Society for Stem Cell Research provides a global map of marketed gene and cell therapies.

Recent advancements in gene therapy show promise for treating rare diseases such as inborn errors of immunity, metabolism disorders, haemoglobinopathies, and inherited blindness. However, despite successful clinical results, access to these therapies remains limited.

Researchers at the Children's Hospital of Philadelphia successfully used CRISPR technology to create a personalized gene therapy for an infant with a rare, incurable disease. This breakthrough opens avenues for treating a variety of genetic disorders by correcting specific gene mutations.

Recent insights into gene therapy highlight its potential to address rare genetic disorders caused by single-gene mutations. This approach aims to restore normal cellular function, paving the way for innovative treatments in the field.

Between 2011 and 2020, 410 new molecular entities were approved by the FDA, reflecting a 6.5% growth in the US. Globally, expedited approval programs have been crucial for anticancer drugs, with 9-75% receiving such designations in Europe, and China implementing similar pathways to enhance pharmaceutical development.

The EMA grants orphan drug designation to drugs targeting life-threatening or chronically debilitating conditions affecting no more than 5 in 10,000 people in the EU. This designation supports the development of therapies for rare diseases.

The article reviews the clinical development and marketing application review times for novel orphan-designated drugs, highlighting the role of expedited regulatory programs by the FDA and EMA. It notes that a significant portion of drugs approved by the FDA have received orphan designation, emphasizing the importance of these programs in drug development.

A 2022 Tufts study reveals that Phase II and III clinical trials for rare diseases face significant challenges, including 30% more planned visits and 23% longer start-up timelines. These factors contribute to lower completion rates, highlighting the complexities in rare disease drug development.

The FDA has launched the Support for Clinical Trials Advancing Rare Disease Therapeutics (START) Pilot Program, aimed at facilitating the development of gene and cellular therapies for serious rare diseases. This initiative aligns chemistry, manufacturing, and controls (CMC) development with clinical needs, addressing unmet medical needs in the rare disease space.

New strategies for designing clinical trials for primary mitochondrial diseases (PMDs) aim to streamline drug approval processes by integrating phases II and III into a single study. This approach addresses the unique challenges of rare diseases, potentially accelerating the development of therapies for patients with limited treatment options.

Pfizer has initiated a Phase 3 trial for giroctocogene fitelparvovec (PF-07055480), a gene therapy targeting severe hemophilia A. This advancement reflects Pfizer's commitment to developing transformative treatments for rare diseases.

Despite ongoing research, no disease-modifying therapies exist for neuronal ceroid lipofuscinosis, with 5 completed clinical trials and 19 case reports since 1977. The lack of proven treatments highlights the challenges faced in developing effective therapies for this rare disease.

Rare Disease Day at NIH highlights the collaboration between the Rare Diseases Clinical Research Network and patient advocacy groups. This event aims to raise awareness and support for rare diseases through community engagement.

Rare Disease Day emphasizes the critical role of patient advocacy groups in driving research and treatment development for rare diseases. Celebrated annually on the last day of February, it aims to raise awareness and mobilize resources for conditions that often receive less attention.

Rare Disease Day aims to enhance awareness of rare diseases among the public and decision-makers, emphasizing their impact on patients' lives. The campaign engages various stakeholders, including policymakers, industry representatives, and health professionals.

Angela, Founder and President of Cal Rare, has significantly influenced rare disease advocacy in California, leading to the formation of the California Rare Disease Legislative Caucus, which now includes 25% of the State Legislature. Her recognition includes the Rare Voice Award for State Advocacy and accolades for her social media impact on rare disease awareness.

Cycle Therapeutics acquires Applied Therapeutics for a low price, capitalizing on its financial struggles. Applied Therapeutics reported $11.9 million in cash and cash equivalents, indicating a strategic move for Cycle in the rare disease sector.

BioMarin Pharmaceutical acquires Amicus Therapeutics for $4.8 billion, enhancing its portfolio in rare enzyme disorders. Amicus's products for Fabry disease and Pompe disease are expected to achieve blockbuster status.

Amgen acquires Horizon Therapeutics for $27.3 billion, highlighting significant consolidation in the rare disease sector amid challenging financial conditions. This acquisition underscores the ongoing interest in rare disease therapies despite market difficulties.

Chiesi Farmaceutici acquired Amryt Pharma for up to $1.5 billion, while Ipsen purchased Albireo for up to $1.2 billion, marking a strong start for M&A in the rare disease sector in 2023. Despite these significant deals, overall financing in the sector remains weak.