Rare Disease Highlight: Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic disease which affects the part of the nervous system controlling voluntary muscle movement.1 SMA is the most common cause of mortality in infants associated with a genetic mutation. It affects approximately 1 in 6,000 to 10,000 people.2 Patients with SMA develop progressive muscle weakness caused by the loss of specialized nerve cells called motor neurons in the spinal cord and the brain stem. The symptoms of SMA cover a broad spectrum of severity based on the age at disease onset and motor ability.3 The most common form of SMA (accounting for 95% of all cases) is associated with mutations in the survival motor neuron 1 (SMN1) gene which lead to SMN1 protein deficiency and eventual loss of motor neurons.4 Currently there is no cure for this serious and life-threatening disease. While there are treatments to help manage the condition, the development of new SMA therapies are necessary to address longstanding unmet needs.5

References used
  1. Faravelli, I., Nizzardo, M., Comi, G., & Corti, S. (2015). Spinal muscular atrophy—recent therapeutic advances for an old challenge. Nature Reviews Neurology, 11(6), 351-359. doi: 10.1038/nrneurol.2015.77
  2. Pearn, J. (1978). Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. Journal Of Medical Genetics, 15(6), 409-413. doi: 10.1136/jmg.15.6.409
  3. Russman, B. (2007). Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. Journal Of Child Neurology, 22(8), 946-951. doi: 10.1177/0883073807305673
  4. Kolb, S. (2011). Spinal Muscular Atrophy. Archives Of Neurology, 68(8), 979. doi: 10.1001/archneurol.2011.74
  5. Spinal Muscular Atrophy Treatment – SMA News Today. (2019). Retrieved from https://smanewstoday.com/spinal-muscular-atrophy-treatment

BioPharma Global is a mission-driven corporation, operating like a not-for-profit, dedicated to using our FDA and EMA regulatory expertise and knowledge of various therapeutics areas to help drug developers advance treatments for the disease communities with a high unmet medical need. If you are a drug developer seeking regulatory support for Orphan Drug designation, Fast Track designation, Breakthrough Therapy designation, other FDA/EMA expedited programs, type A, B (pre-IND, EOPs), or C meeting assistance, or IND filings, the BioPharma Global team can help. Contact us today to arrange a 30-minute introductory call.

Rare Disease Highlight: Hepatocellular Carcinoma (Liver Cancer)

Hepatocellular Carcinoma is a form of liver cancer associated with various stages of malignant growth in the liver. It is the sixth most common cancer worldwide, but is rare in the United States, only affecting around 60,000 patients.1,2 Hepatocellular carcinoma is considered a deadly cancer, with a survival rate of only 12.2% for five years, and the third major leading cause of cancer-related deaths worldwide.3,4 While most liver cancers are preventable, the incidence of hepatocellular has been increasing in the United States. This is possibly due to the frequency of common risk factors such as chronic liver disease, viral liver infections such as hepatitis, and liver cirrhosis.3,5 Hepatocellular carcinoma can be treated with standard of care therapies. Unfortunately, many patients with the disease have a high risk of developing resistance creating an unmet need for new treatment options of this serious and life-threatening disease.6

References used
  1. SEER Cancer Stat Facts: Liver and Intrahepatic Bile Duct Cancer. NCI; 2018. https://seer.cancer.gov/statfacts/html/livibd.html. Accessed 03/15/2018.
  2. Zhu RX, Seto WK, Lai CL, Yuen MF. Epidemiology of Hepatocellular Carcinoma in the Asia-Pacific Region. Gut Liver. 2016;10(3):332-339.
  3. Momin BR, Pinheiro PS, Carreira H, Li C, Weir HK. Liver cancer survival in the United States by race and stage (2001-2009): Findings from the CONCORD-2 study. Cancer. 2017;123 Suppl 24:5059-5078.
  4. Zhu YJ, Zheng B, Wang HY, Chen L. New knowledge of the mechanisms of sorafenib resistance in liver cancer. Acta Pharmacol Sin. 2017;38(5):614-622.
  5. Kamarajah SK. Fibrosis score impacts survival following resection for hepatocellular carcinoma (HCC): A Surveillance, End Results and Epidemiology (SEER) database analysis. Asian Journal of Surgery. 2018;1(1)
  6. Pan S, Li Z, He Z, Qiu J, Zhou S. Molecular Mechanisms for Tumor Resistance to Chemotherapy. Clinical and Experimental Pharmacology and Physiology. 2016;2016(43):723-73

BioPharma Global is a not for profit-operating regulatory affairs firm specializing in FDA and EMA expedited designations for companies working to treat rare diseases. If you are a rare disease drug developer seeking Orphan Drug designation, Fast Track designation, Breakthrough Therapy designation, or other FDA/EMA designations, or if you are seeking pre-IND meeting assistance (type A, B, or C), the BioPharma Global regulatory team can help. Contact us today to arrange a 30-minute introductory call.

BioPharma Global is Proud to Reaffirm our Commitment to Asia

BioPharma Global, America’s premier regulatory specialists for FDA and EMA orphan drug designations and regulatory strategy, is honored to announce the enhancement of its Global Business Initiative and East Asian outreach with the addition of Yalin Zhang, who brings strong regulatory expertise and a unique understanding of the Asian market place. Yalin is a graduate of Georgetown University where she received a Master’s in Biotechnology. In addition to her other skills Yalin is Bilingual in English and Mandarin Chinese. With Ms. Zhang at our side we proudly extend our greetings and our services to the Chinese and other East Asian biopharmaceutical industries. We at BioPharma Global eagerly look to a future of connecting Asia’s brightest researchers with both the American  and EU markets by providing regulatory services specializing in FDA/EMA Orphan Drug, Breakthrough, and Fast Track Designations, among others. 

BioPharma Global荣幸的重申我们对亚洲的承诺

BioPharmaGlobal是美国FDAEMA孤儿药资格认定首要的专业药政咨询公司,我们荣幸的宣布扩大我们全球商业及亚洲业务拓展战略,并热烈欢迎新成员张雅林的加入。她拥有强大的药政专业知识和对亚洲市场的深入理解,毕业于Georgetown University并获得生物技术硕士学位,除此之外双语也是亮点之一。我们很荣幸的向中国和其他亚洲生物制药公司致以我们诚挚的问候。BioPharmaGlobal希望通过提供专业的FDA/EMA孤儿药资格认定,突破性疗法资格认定和快速审评等其他药政咨询,将亚洲最先进的药物研发项目与美国市场相对接。