02082021

FDA Grants Orphan Drug Status to M6P Gene Therapy
by Drug Discovery NewsRare Disease NewsRegulatory News

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to two gene therapies that M6P Therapeutics is developing — one intended for Gaucher disease, the other aiming to treat the inherited metabolic disorder mucolipidosis.

The regulatory agency also awarded six rare pediatric disease designations to various investigational therapies that M6P Therapeutics is developing to treat lysosomal storage disorders, which include Gaucher and mucolipidosis.

“We are grateful to the FDA for these multiple orphan and rare pediatric disease designations that highlight the need for new and improved therapies to address unmet needs,” Pawel Krysiak, president and CEO of M6P Therapeutics, said in a press release.

Lysosomal storage disorders are conditions in which the function of the lysosome — necessary for cell maintenance — is impaired due to missing or defective enzymes. These conditions usually result from mutations in the genes that code for those enzymes. Often described as the cellular “garbage disposal” or “recycling machinery,” lysosomes are responsible for breaking down certain cellular products.

In these disorders, lysosomes do not work properly, causing cellular components to build up to toxic levels. For example, in Gaucher disease, a lack of the lysosomal enzyme beta-glucocerebrosidase leads to a buildup of the cellular component glucocerebroside.

Mannose 6-phosphate, or M6P, is a small sugar molecule that can be attached to lysosomal enzymes. The company’s approach of increasing the mannose 6-phosphate content of gene therapies or enzyme replacement therapies is meant to improve treatment delivery into lysosomes by binding to specific receptors.

To Read the Complete Article at Gaucher Disease News, Click Here

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

Stock image by @everythingposs from Depositphotos

Sickle Cell Disease

Rare Disease Highlight: Sickle Cell Disease
by Rare Disease Highlight

By Rita Ejiofor

Sickle cell Disease (SCD) is the most common severe monogenic disorder that is characterized by misshapen red blood cells (RBC) that affects approximately 100,000 Americans 1. SCD arises due to a mutation in the hemoglobin S gene (HbS), a protein molecule in RBC that is responsible for transporting oxygen throughout the body 2. The mutation arises from a mismatch in the amino acids of the HbS protein causing the RBC to clump together and form a sickled shape.  SCD is an autosomal recessive disorder where patients inherit either two copies of the mutated HbS gene, known as sickle cell anemia or where only 1 copy of the HbS gene is inherited, known as sickle cell carriers. Patients who are carriers of the disease are known to have a genetic advantage over their anemic counterparts as they are protected by malaria 3. Signs and symptoms of SCD can vary, however common side effects include bone pain, chest pain, shortness of breath, delayed growth and development, and cardiac issues 4. Currently only Haemopoietic Stem Cell Transplantation (HSCT) is the only approved cure for SCD. This therapy works by removing stem cells from a healthy patient’s bone marrow and transferring it to SCD patients. However, finding a matching transplant donor can be very difficult. Other treatment options include Hydroxyurea (HU) however, it is associated with many side effects including nausea, skin toxicity, rashes etc 4. SCD is still a major public health disease worldwide and despite current practices more innovative treatment is needed in order to expand the life of patients with the disease.

References

  1. Data & Statistics on Sickle Cell Disease. (2019, October 21). Retrieved August 28, 2020, from https://www.cdc.gov/ncbddd/sicklecell/data.html
  2. Rees, D. C., Williams, T. N., & Gladwin, M. T. (2010). Sickle-cell disease. The Lancet. https://doi.org/10.1016/S0140-6736(10)61029-X
  3. Ashley-Koch, A., Yang, Q., & Olney, R. S. (2000). Sickle hemoglobin (Hb S) allele and sickle cell disease: A HuGE review. In American Journal of Epidemiology. https://doi.org/10.1093/oxfordjournals.aje.a010288
  4. AS, A. (2014). Management of Sickle Cell Disease: A Review for Physician Education in Nigeria (Sub-Saharan Africa). Anemia.

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

02042021

Veralox Therapeutics Announces FDA Orphan Drug Designation for VLX-1005
by Drug Discovery NewsRare Disease NewsRegulatory News

Veralox Therapeutics, a biotechnology company developing first-in-class small molecule therapeutics that treat the underlying pathologies of diseases with significant unmet medical needs, today announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for VLX-1005 for the treatment of heparin induced thrombocytopenia (HIT).

“We are pleased the FDA has granted Orphan Drug Designation for VLX-1005 for prophylaxis of thrombosis in patients with heparin-induced thrombocytopenia,” said Jeffrey W. Strovel, PhD, Chief Executive Officer of Veralox Therapeutics. “This is a significant regulatory milestone for our company, and in the development of this investigational new drug product and recognition of the clear unmet medical need for patients who suffer from this devastating disease.”

“We believe VLX-1005, with its novel mechanism of action, has great potential to be the first disease modifying therapy for HIT in over 20 years,” said Matthew B. Boxer, PhD, Chief Operating Officer of Veralox Therapeutics.

The FDA, through its Office of Orphan Products Development (OOPD), grants orphan status to drugs and biologic products that are intended for the safe and effective treatment, diagnosis, or prevention of rare diseases or conditions that affect fewer than 200,000 people in the United States, or that affect more than 200,000 people but are not expected to recover the costs of drug development and marketing. Orphan drug designation provides eligibilityfor certain development incentives, including tax credits for qualified clinical testing, prescription drug user fee exemptions and seven-year marketing exclusivity upon FDA approval.

To Read the Complete Article at Business Wire, Click Here

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

Stock image by @SergeyNivens from Depositphotos

02032021

M6P Therapeutics Receives Six Rare Pediatric Disease Designations from the U.S. FDA for Company’s Deep Pipeline of Programs for Lysosomal Storage Disorders
by Drug Discovery NewsRare Disease NewsRegulatory News

– U.S. FDA Also Grants Two Orphan Drug Designations for the Company’s Gene Therapy Programs for Gaucher Disease and Mucolipidosis –

M6P Therapeutics, a privately held life sciences company developing next-generation recombinant enzyme and gene therapies for lysosomal storage disorders (LSDs), today announced that the U.S. Food and Drug Administration (FDA) granted six rare pediatric disease designations (RPDDs) for various programs within its development pipeline for LSDs, including four recombinant enzyme and two gene therapy programs. In addition, the FDA granted two orphan drug designations (ODDs) for its gene therapy programs for Gaucher disease and mucolipidosis.

M6P Therapeutics is developing an innovative technology that regulates the natural mechanism for trafficking enzymes to lysosomes. The company’s bicistronic-S1S3 platform enables improved biodistribution of recombinant enzymes to target tissues and efficient cross-correction for gene therapies. LSDs, which can present in infancy, childhood or adulthood, are a group of approximately 50 rare genetic disorders that are associated with high morbidity and mortality. Currently, there are no cures for any of these disorders.

“LSDs are progressive and represent significant burden for patients, their families, and the healthcare systems,” said Pawel Krysiak, president and chief executive officer of M6P Therapeutics. “Our innovative platform enables efficient trafficking of either a recombinant enzyme or gene therapy product to the affected cells and tissues and has the potential to generate best-in-class treatments for LSDs. We are grateful to the FDA for these multiple orphan and rare pediatric disease designations that highlight the need for new and improved therapies to address unmet needs.”

Under the RPDD program, the FDA grants a Priority Review Voucher (PRV) to the sponsor who receives a product approval for a “rare pediatric disease,” defined as a serious or life-threatening condition of fewer than 200,000 Americans that primarily affects individuals from birth to 18 years. M6P Therapeutics may be eligible to receive a PRV for each RPDD that gains marketing approval. The vouchers may be sold or transferred or redeemed for subsequent marketing applications.

Designation as an orphan drug serves to advance drug development for rare diseases. The FDA grants the designation to drugs or biologics that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions that affect fewer than 200,000 Americans. Orphan designation provides development and commercial incentives including exemption from FDA user fees and eligibility for a seven-year period of market exclusivity upon approval in the U.S.

To Read the Complete Article at BioSpace, Click Here

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

Stock image by @beawolf from Depositphotos

02022021

Amgen Announces Breakthrough Therapy Designation Granted For Sotorasib In China
by Drug Discovery NewsRegulatory News

Amgen (NASDAQ: AMGN) today announced that its investigational KRASG12C inhibitor sotorasib was granted Breakthrough Therapy Designation (BTD) by the Center for Drug Evaluation (CDE) of the National Medical Products Administration (NMPA). The designation is for the treatment of patients with KRAS G12C-mutated locally advanced or metastatic non-small cell lung cancer (NSCLC) who have received at least one prior systemic therapy. This is the first BTD submission for Amgen in China, as well as the first under Amgen’s strategic collaboration with BeiGene. 

NSCLC is the most common form of lung cancer, accounting for approximately 80-85% of all cases worldwide.1 KRAS G12C is the most common KRAS mutation in NSCLC.2,3 The mutation is a biomarker of poor prognosis in Chinese NSCLC patients, which may be improved by G12C-specific inhibitors.4 Research has shown that about 3-5% have the KRAS G12C mutation – found most commonly in smokers.4,5

“Given that Breakthrough Therapy Designation is a new pathway in China, we are pleased to receive this designation for sotorasib,” said David M. Reese, M.D., executive vice president of Research and Development at Amgen. “This designation underscores the importance of sotorasib and we look forward to working with regulatory authorities in China to bring the first potential targeted therapy to NSCLC patients with the KRAS G12C mutation.”

The Breakthrough Therapy Designation is supported by the positive CodeBreaK 100 Phase 2 results in patients with advanced NSCLC whose cancer had progressed despite prior treatment with chemotherapy and/or immunotherapy. In the study, treatment with sotorasib demonstrated durable anticancer activity with a positive benefit-risk profile.6 These results will be presented at the International Association for the Study of Lung Cancer (IASLC) 2020 World Conference on Lung Cancer (WCLC) Presidential Symposium from 3:50-4 p.m. PST on Friday, Jan. 29.

To Read the Complete Article at BioSpace, Click Here

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

Stock image by @vitanovski from Depositphotos

02012021

Mundipharma and Cidara’s rezafungin gets Orphan Drug Designation in EU
by Drug Discovery NewsRare Disease NewsRegulatory News

The European Commission (EC) has adopted the European Medicines Agency’s (EMA) Committee for Orphan Medicinal Products (COMP) recommendation to grant Orphan Drug Designation (ODD) to Mundipharma and Cidara Therapeutics’ rezafungin for treating invasive candidiasis (IC).

IC is a severe, life-threatening Candida infection of the bloodstream and / or deep / visceral tissues.

A novel, once weekly echinocandin, rezafungin is currently in Phase III trials for treating severe fungal infections.

Mundipharma holds exclusive rights to develop and market the drug in all markets except the US and Japan, where Cidara retains the rights.

Mundipharma chief scientific officer Brian Sheehan said: “Orphan drug designation is an important milestone in the development of rezafungin, which is currently in Phase III clinical trials.

“Fungal infections still pose a major threat to the lives of hospitalised or immunocompromised patients. We are proud that patients affected with invasive candidiasis may have an additional treatment option to treat this potentially life-threatening condition.”

The latest development comes after rezafungin was granted the US Food and Drug Administration’s (FDA) Qualified Infectious Disease Product (QIDP) with Fast Track status and ODD for use in treating IC, including candidaemia.

Cidara Therapeutics president and CEO Jeffrey Stein said: “We are pleased by the decision of the EMA to grant orphan drug designation to rezafungin, further supporting its potential as the first new antifungal for the treatment of serious invasive Candida infections in nearly 15 years.”

To Read the Complete Article at Pharmaceutical Technology, Click Here

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

Stock image by @stockasso from Depositphotos

Contact Us For A Free Consultation
02282020

Rare Disease Highlight: Persistent Corneal Epithelial Defects
by Rare Disease Highlight

Persistent Corneal Epithelial Defects (PCEDs) is a term used to describe individuals who have had an ocular wound to certain cells in the cornea (epithelial cells) that have not healed after 14 days 1. The estimated amount of individuals affected in the U.S. with a PCED is 73,434 – 99,465 persons, making it’s patient population rare 2. PCED is a condition that can develop from many different precursor complications including, but not limited to: persistent dry eye syndrome, limbal stem cell deficiencies, neurotrophic conditions, chemical burns, inflammation, herpes simplex disorders of the ocular region, diabetes, and others 1,3,4. Symptoms of PCEDs typically include ocular discomfort and vision difficulties 1. PCEDs can lead to the development of ulcers, scarring, and loss of vision. Risk factors that may increase the likelihood of developing PCEDs are older age, male gender, bacterial or viral infection, rheumatic diseases, or treatment with anticancer drugs 4. Some of the current treatments available include ocular lubrication, punctual plugs, bandage contact lens, and corneal transplants, while other medications are specific to the underlying cause of the PCED 1. Current treatments can be unsuccessful or cause negative side effects pointing to the need for newer more effective treatments to be developed to prevent the risk of further ocular complications and vision loss 3,5.

References

  1. Gupta S, Gupta P, Sayegh R. Healing a Persistent Corneal Epithelial Defect. In. EyeNet Magazine. American Academy of Ophthalmology 2014:33-35.
  2. Wirostko B, Rafii M, Sullivan DA, Morelli J, Ding J. Novel Therapy to Treat Corneal Epithelial Defects: A Hypothesis with Growth Hormone. Ocul Surf. 2015;13(3):204-212.e201.
  3. Napoli PE, Braghiroli M, Iovino C, Demarinis G, Fossarello M. A study of refractory cases of persistent epithelial defects associated with dry eye syndrome and recurrent corneal erosions successfully treated with cyclosporine A 0.05% eye drops. Drug Des Devel Ther. 2019;13:2001-2008.
  4. Vaidyanathan U, Hopping GC, Liu HY, et al. Persistent Corneal Epithelial Defects: A Review Article. Med Hypothesis Discov Innov Ophthalmol. 2019;8(3):163-176.
  5. Katzman LR, Jeng BH. Management strategies for persistent epithelial defects of the cornea. Saudi J Ophthalmol. 2014;28(3):168-172.

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

02212020

Rare Disease Highlight: Creutzfeldt-Jakob Disease
by Rare Disease Highlight

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, transmissible, and invariably fatal neurodegenerative brain disorder affecting both humans and animals. CJD belongs to a family of prion diseases or transmissible spongiform encephalopathies (TSE) and was first described in 1920 by Hans Creutzfeldt, later in 1923 by Alfons Jakob 1,2. The word “prion”, derived from proteinaceous infectious particle, was coined by Stanley B. Prusiner in 1982 after the discovery of the disease-associate protein 3. CJD is a very rare neurodegenerative disease with only 1,224 confirmed cases since 1979 in the US 4. Within a few months of infection, patients suffer from severe morbidities, including personality changes, cognitive impairment, uncontrollable muscle shaking, and lose the ability to move and speak, resulting in the death of the patient within one year of onset of illness 1,4. There are no pharmacological or surgical options for treatment. Instead, patients with CJD  are usually managed in an intensive care unit to allow symptomatic and supportive care 1. This leaves a significant unmet clinical need within these patients.

References

  1. Sitammagari, K. K. & Masood, W. Creutzfeldt Jakob Disease. StatPearls (StatPearls Publishing, 2018).
  2. Iwasaki, Y. Creutzfeldt-Jakob disease. Neuropathology 37, 174–188 (2017).
  3. Mackenzie, G. & Will, R. Creutzfeldt-Jakob disease: recent developments. F1000Research 6, 2053 (2017).
  4. CDC. Creutzfeldt-Jakob Disease. (2019). Available at: https://www.cdc.gov/prions/cjd/about.html. (Accessed: 20 February 2019)

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

02142020

Rare Disease Highlight: Narcolepsy
by Rare Disease Highlight

Narcolepsy is a rare disease that affects 1 in every 2,000 people worldwide 1. Narcolepsy is characterized by symptoms of excessive daytime sleepiness, hallucinations upon falling asleep and waking up, insomnia, sleep paralysis, and falling quickly into the rapid eye movement (REM) stage upon falling asleep 1,2. Narcolepsy is divided into two subtypes: Narcolepsy type 1 (N1) and type 2 (N2) 1,3. N1 is well understood and is thought to be autoimmune in nature 1,3,4. In addition to classic symptoms of narcolepsy, those with N1 almost always experience cataplexy – a phenomenon where a patient loses muscle control upon experiencing strong emotion. Those with N2 do not typically present with cataplexy, however, these patients can potentially experience cataplexy later in life, and their diagnosis will be changed accordingly 1,3.

Narcolepsy is a lifelong disorder presenting anywhere from childhood to young adulthood, however, an official diagnosis, which is confirmed by a sleep study completed in a sleep lab, may be delayed until adulthood 1,3,5. Misdiagnosis and comorbidities, as well as a lack of effective symptom recognition and awareness, may all lead to the average amount of time between symptom presentation and diagnosis being between 8-22 years 4,6. Treatment for narcolepsy is typically a combination of stimulants, wake-promoting medications, and sleep agents to help with insomnia and fragmented sleep patterns 1. Antidepressants and some sleep medications may also be used to treat cataplexy 1,2. Newer medications are being developed that promote wakefulness through more specific pathways, however, there is still no cure developed 1,2,3. There is also the question of reliability in sleep study results and subsequent diagnosis 5. These medication and diagnostic challenges point to a need for further research and development to create more effective medications and diagnostic tools for those affected by narcolepsy.

References

  1. Bhattarai J, Sumerall S. Current and Future Treatment Options for Narcolepsy: A Review. Sleep Sci. 2017;10(1):19-27.
  2. Burgess CR, Scammell TE. Narcolepsy: neural mechanisms of sleepiness and cataplexy. J Neurosci. 2012;32(36):12305-12311.
  3. Barateau L, Dauvilliers Y. Recent advances in treatment for narcolepsy. Therapeutic Advances in Neurological Disorders. 2019;12:1756286419875622.
  4. Golden EC, Lipford MC. Narcolepsy: Diagnosis and management. Cleveland Clinic Journal of Medicine. 2018;85(12):959.
  5. Lopez R, Doukkali A, Barateau L, et al. Test–Retest Reliability of the Multiple Sleep Latency Test in Central Disorders of Hypersomnolence. Sleep. 2017;40(12).
  6. Morse AM. Narcolepsy in Children and Adults: A Guide to Improved Recognition, Diagnosis and Management. Med Sci (Basel). 2019;7(12).

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.

02072020

Rare Disease Highlight: Multiple Myeloma
by Rare Disease Highlight

Multiple Myeloma (MM) is a rare cancer that is characterized by the uncontrolled growth of white blood cells1-4. This uncontrolled growth is caused by changes and mutations to the DNA of the cells5,6. There are different subtypes of MM which are characterized by the number and type of mutations observed, along with prognosis associated with each subtype3,5,7,8. The underlying cause of MM is unknown, however, some individuals are at a higher risk for developing MM, including those who are of older age, male, African American, and those with a family history of MM2,4,9. MM is the second most common blood cancer and makes up about 1% of all cancer diagnoses2,4.  An early, inactive form of MM, called Smoldering Multiple Myeloma (SMM), usually occurs in patients before they are diagnosed with MM4,7,10. The difference between SMM and MM is that those with SMM won’t have visible symptoms, while MM patients will present with anemia, an increase in serum calcium, bone lesions, compromised immune function, kidney issues, and other complications4,10,11. The chances of SMM developing into MM is 10-20% each year7. Current treatments include stem cell transplant, chemotherapies, surgery, radiation, and novel therapies such as immunomodulatory agents and proteasome inhibitors12,13. Around 52.25% of patients diagnosed with MM survive 5 years past diagnosis14. Recent improvements in treatments have brought the survival rate of MM up, however,  there is still no cure, and current treatments are not always successful or have associated complications indicating that there is still a large need for investigations into newer and more effective treatments3,4,6.

References

  1. Kyrtsonis M-C, Koulieris E, Bartzis V, et al. Monoclonal Immunoglobulin. In: Multiple Myeloma – A Quick Reflection on the Fast Progress.2013.
  2. Halvarsson BM, Wihlborg AK, Ali M, et al. Direct evidence for a polygenic etiology in familial multiple myeloma. Blood Adv. 2017;1(10):619-623.
  3. Van Wier S, Braggio E, Baker A, et al. Hypodiploid multiple myeloma is characterized by more aggressive molecular markers than non-hyperdiploid multiple myeloma. Haematologica. 2013;98(10):1586-1592.
  4. Smith L, McCourt O, Henrich M, et al. Multiple myeloma and physical activity: a scoping review. BMJ Open. 2015;5(11):e009576.
  5. Fonseca R, Bergsagel PL, Drach J, et al. International Myeloma Working Group molecular classification of multiple myeloma: spotlight review. Leukemia. 2009;23(12):2210-2221.
  6. Chretien ML, Corre J, Lauwers-Cances V, et al. Understanding the role of hyperdiploidy in myeloma prognosis: which trisomies really matter? Blood. 2015;126(25):2713-2719.
  7. Prideaux SM, Conway O’Brien E, Chevassut TJ. The genetic architecture of multiple myeloma. Adv Hematol. 2014;2014:864058.
  8. Kazandjian D, Hill E, Hultcrantz M, et al. Molecular underpinnings of clinical disparity patterns in African American vs. Caucasian American multiple myeloma patients. Blood Cancer J. 2019;9(2):15.
  9. Alexander DD, Mink PJ, Adami H-O, et al. Multiple myeloma: A review of the epidemiologic literature. International Journal of Cancer. 2007;120(S12):40-61.
  10. Eslick R, Talaulikar D. Multiple myeloma: from diagnosis to treatment. Aust Fam Physician. 2013;42(10):684-688.
  11. Bladé J, Rosiñol L. Complications of Multiple Myeloma. Hematology/Oncology Clinics of North America. 2007;21(6):1231-1246.
  12. Mikhael J, Ismaila N, Cheung MC, et al. Treatment of Multiple Myeloma: ASCO and CCO Joint Clinical Practice Guideline. Journal of Clinical Oncology. 2019;37(14):1228-1263.
  13. Wallington-Beddoe CT, Pitson SM. Novel therapies for multiple myeloma. Aging (Albany NY). 2017;9(8):1857-1858.
  14. National Institute of Health. Cancer Stat Facts Web site. https://seer.cancer.gov/statfacts/html/mulmy.html. Published 2016. Accessed 02/05, 2020.

Disclaimer: BioPharma Global is not responsible for, and expressly disclaims all liability for, damages of any kind arising out of use, reference to, or reliance on any information contained within the article. Content available through the site may contain links and information to other websites. Links from BioPharma Global to third-party sites do not constitute an endorsement by BioPharma Global of the mentioned parties.

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 therapeutic 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.