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Apellis and Sobi Announce First Patient Dosed in Phase 3 VALIANT Study of Pegcetacoplan for IC-MPGN and C3G, Rare Kidney Diseases with High Unmet Medical Need


WALTHAM, Mass. and STOCKHOLM, Sweden, June 07, 2022 (GLOBE NEWSWIRE) — Apellis Pharmaceuticals, Inc. (Nasdaq: APLS) and Sobi® (STO:SOBI) today announced that the first patient has been dosed in the Phase 3 VALIANT study investigating pegcetacoplan, a targeted C3 therapy, in primary immune-complex membranoproliferative glomerulonephritis (IC-MPGN) and C3 glomerulopathy (C3G), two rare and debilitating kidney diseases with similar underlying causes and no approved treatment.

“Individuals with IC-MPGN and C3G experience a high burden of disease due to the lack of approved treatments to slow or stop disease progression. These diseases often lead to kidney failure, requiring dialysis or a kidney transplant, imposing further substantial burdens,” said Kristen Hood, MSN, RN, executive director of research engagement at Nephcure Kidney International. “We are excited that Apellis and Sobi are advancing a Phase 3 study of pegcetacoplan in patients aged 12 and older, with primary IC-MPGN or C3G, including those with post-transplant recurrence.”

Uncontrolled activation of the complement cascade, a part of the body’s immune system, is believed to play a critical role in the progression of IC-MPGN and C3G where excessive accumulation of C3 breakdown products in the kidney causes inflammation and organ damage.1-4 It is estimated that 5,000 people in the United States and up to 8,000 in Europe are living with IC-MPGN or C3G,5 and approximately 50% ultimately suffer from kidney failure within five to 10 years of diagnosis.6

Click here to read the full article at FDANews

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 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 unmet medical needs. 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.

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FDA Grants Sanofi and Sobi Factor VIII Therapy Breakthrough Designation


The FDA granted Sanofi and Sobi’s investigational blood-clotting drug efanesoctocog alfa a Breakthrough Therapy designation for treatment of patients with hemophilia A.

Efanesoctocog alfa is a novel recombinant factor VIII therapy designed to extend protection from bleeds with a once-weekly prophylactic dose.

The breakthrough designation was supported by phase 3 data showing that the treatment helped prevent bleeding in individuals with the rare, life-threatening genetic bleeding disorder over a 52-week period.

The FDA granted efanesoctocog alfa Orphan Drug designation in August 2017 and Fast Track designation in February 2021.

Click here to read the full article at FDANews

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 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 unmet medical needs. 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.

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Kymera Therapeutics Receives FDA Orphan Drug Designation for KT-333, a First-in-Class, Investigational STAT3 Degrader for the Treatment of Peripheral T-Cell Lymphoma


WATERTOWN, Mass., June 01, 2022 (GLOBE NEWSWIRE) — Kymera Therapeutics, Inc. (NASDAQ: KYMR), a clinical-stage biopharmaceutical company advancing targeted protein degradation to deliver novel small molecule protein degrader medicines, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to KT-333 for the treatment of Peripheral T-cell Lymphoma (PTCL). KT-333 is a first-in-class degrader of the transcriptional regulator STAT3. STAT3 activation has been shown to be a key modulator of disease in PTCL, and there are currently no approved therapies for PTCL that target this pathway.

“The Orphan Drug Designation highlights the potential of this first-in-class heterobifunctional degrader to transform the treatment of PTCL by targeting STAT3, a protein that has historically been undruggable,” said Nello Mainolfi, PhD, Co-Founder, President and CEO, Kymera Therapeutics. “We look forward to working with the lymphoma community to rapidly advance KT-333 as a potential treatment for PTCL while we continue to expand clinical investigation of this novel mechanism in other cancers both in the hematological and in the solid tumor space.”

The FDA’s Orphan Drug Designation program provides orphan status to drugs defined as those intended for the treatment, diagnosis or prevention of rare diseases that affect fewer than 200,000 people in the United States. Orphan drug designation qualifies the sponsor of the drug for certain development incentives, including tax credits for qualified clinical testing, prescription drug user fee exemptions and seven-year marketing exclusivity upon FDA approval.

Click here to read the full article at GlobeNewswire

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 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 unmet medical needs. 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.

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Rare Disease Highlight: Acinetobacter infection

Acinetobacter infection is a rare and serious bacterial disease acquired by combat troops returning from conflict zones in areas of the Middle East (Howard et al., 2012). In addition, Acinetobacter infection occurs in intensive care unit (ICU) patients who are critically ill or have a weakened immune system (CDC, 2010). The disease can initially manifest as nosocomial pneumonia, bloodstream or wound infection, urinary tract infection, or other type of opportunistic infection. Across the range of anatomical regions which may be involved, Acinetobacter infections are typically associated with worse outcomes compared with more commonly isolated organisms. For example, ventilator associated pneumonia (VAP) is defined as occurring for more than 48 hours following mechanical ventilation in an intubated patient, and accounts for 86% of all nosocomial pneumonias. VAP caused by Acinetobacter is associated with mortality rates up to 70% and greater disease severity than other etiologies (Howard et al., 2012; Koenig et al., 2006). Acinetobacter infections also account for 1.3% of all nosocomial bloodstream infections in the US and are associated with the third highest mortality rate in the ICU below Pseudomonas infection and Candidiasis.

Normally found in aquatic environments, Acinetobacter can be found in cultures of hospitalized patients’ sputum, respiratory secretions, wounds, and urine, but normally has low virulence (Cunha, 2016; Howard et al., 2012). The genus Acinetobacter includes a heterogeneous group of 34 formally named species of aerobic nonhemolytic Gram-negative coccobacilli, which are usually found in diploid formation or chains of variable length. Among the Acinetobacter species, A. baumanniiA. pittii, and A. nosocomialis are closely related and are considered important nosocomial pathogens accounting for most Acinetobacter infections (Kim et al., 2014). Of these, Acinetobacter baumannii accounts for 80% of reported infections (CDC, 2010).

A. baumannii is a Gram-negative, pleomorphic, aerobic, catalase-positive, oxidase-negative, non-motile, non-fermenting coccobacillus. Carbapenem-resistant Acinetobacter baumannii (CRAB) refers to strains of this pathogen which have reduced susceptibility to carbapenems due to a variety of mechanisms including expression of a carbapenemase enzyme, porin loss and/or changes in membrane permeability (Codjoe et al., 2018). This activity contributes to the high frequency of multidrug-resistance (MDR) and the high severity of infections caused by CRAB (Queenan et al., 2007). The incidence of MDR properties among all A. baumannii infections is estimated from 30-80% of reported cases (CDC, 2011; Xiao et al., 2017).

References

CDC. (2010). Acinetobacter in Healthcare Settings. Retrieved from https://www.cdc.gov/hai/organisms/acinetobacter.html

CDC. (2011). Gram-negative Bacteria Infections in Healthcare Settings. Retrieved from https://www.cdc.gov/hai/organisms/gram-negative-bacteria.html

Codjoe, F. S., & Donkor, E. S. (2018). Carbapenem Resistance: A Review. Medical Sciences, 6(1), 1.

Cunha, B. (2016). Acinetobacter. Retrieved from https://emedicine.medscape.com/article/236891

Howard, A., O’Donoghue, M., Feeney, A., & Sleator, R. D. (2012). Acinetobacter baumannii: an emerging opportunistic pathogen. Virulence, 3(3), 243-250. doi:10.4161/viru.19700

Kim, U. J., Kim, H. K., An, J. H., Cho, S. K., Park, K.-H., & Jang, H.-C. (2014). Update on the Epidemiology, Treatment, and Outcomes of Carbapenem-resistant Acinetobacter infections. Chonnam medical journal, 50(2), 37-44. doi:10.4068/cmj.2014.50.2.37

Koenig, S. M., & Truwit, J. D. (2006). Ventilator-associated pneumonia: diagnosis, treatment, and prevention. Clinical microbiology reviews, 19(4), 637-657. doi:10.1128/CMR.00051-05

Queenan, A. M., & Bush, K. (2007). Carbapenemases: the versatile beta-lactamases. Clinical microbiology reviews, 20(3), 440-458. doi:10.1128/CMR.00001-07

Xiao, D., Wang, L., Zhang, D., Xiang, D., Liu, Q., & Xing, X. (2017). Prognosis of patients with Acinetobacter baumannii infection in the intensive care unit: A retrospective analysis. Experimental and therapeutic medicine, 13(4), 1630-1633. doi:10.3892/etm.2017.4137

BioPharma Global is a mission-driven corporation 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 unmet medical needs. 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.

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FDA Gives Accelerated Approval to Novartis’ Kymriah for Follicular Lymphoma


The FDA has granted accelerated approval for Novartis’ chimeric antigen receptor (CAR)-T cell drug Kymriah (tisagenlecleucel) for the treatment of patients with relapsed or refractory follicular lymphoma after two or more lines of systemic therapy.

The approval was supported by data from a 90-participant clinical trial in which 68 percent of patients experienced a complete response.

Under the terms of the accelerated approval, the company must conduct one or more confirmatory clinical trials to demonstrate the treatment’s benefit.

Kymriah is also approved for patients up to 25 years old who have B-cell precursor acute lymphoblastic leukemia that is refractory or in second or later relapse and for patients with relapsed or refractory large B-cell lymphoma after two or more lines of systemic therapy.

Click here to read the full article at FDANews

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 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 unmet medical needs. 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.

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FDA Expands Approval of SMA Drug Evrysdi to Include Infants Under Two Months Old


The FDA has granted an expanded approval for Roche’s oral solution drug Evrysdi (risdiplam) to include pediatric patients under two months old with the rare genetic disorder spinal muscular atrophy (SMA).

The agency based the expanded approval on interim data from a study that enrolled infants aged from birth to six weeks old at first dose who were genetically diagnosed with SMA but not yet symptomatic.

The majority of presymptomatic infants treated with Evrysdi achieved key milestones, including sitting and standing, with half of the participants walking after 12 months of treatment, the company said.

In August 2020, the FDA approved Evrysdi for pediatric and adult SMA patients aged two months and older.

Click here to read the full article at FDANews

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 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 unmet medical needs. 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.

BPG BLOG (54)

Servier Gets Expanded FDA Approval of Tibsovo for IDH1-Mutated AML


The FDA has approved Servier Pharmaceuticals’ Tibsovo (ivosidenib) in combination with Bristol Myers Squibb’s Vidaza (IV formulation of azacitidine) to treat patients 75 years and older with newly diagnosed isocitrate dehydrogenase-1 (IDH1) mutation in acute myeloid leukemia (AML) or who have comorbidities that preclude use of intensive induction chemotherapy.

“People living with acute myeloid leukemia, especially those who are newly diagnosed and are not eligible for intensive chemotherapy, have had few treatment options,” said Susan Pandya, vice president of clinical development and head of cancer metabolism global development oncology & immuno-oncology at Servier.

Tibsovo, an IDH1 inhibitor, was first approved by the FDA in 2018. The expanded approval for IDH1-mutated AML joins the list of other approved indications, including relapsed or refractory AML and previously treated locally advanced or metastatic cholangiocarcinoma.

Click here to read the full article at FDANews

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 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 unmet medical needs. 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.

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Blue Lake Biotechnology Announces FDA Fast Track Designation for BLB-201 Intranasal RSV Vaccine


ATHENS, Ga. and LOS GATOS, Calif., May 24, 2022 /PRNewswire/ — Blue Lake Biotechnology, Inc., a clinical-stage biopharmaceutical company developing vaccines using a proprietary transformational parainfluenza virus 5 (PIV5)-based vector, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for BLB-201, an intranasal vaccine for the prevention of respiratory syncytial virus (RSV) associated disease in adults over 60 and children under 2 years of age. BLB-201 is based on an attenuated strain of PIV5 (also known as canine parainfluenza virus) and expresses the RSV-F protein. In preclinical studies, BLB-201, delivered intranasally as a single dose, induces serum antibody and mucosal antibody responses as well as cell-mediated immune responses, and is protective in RSV challenge studies conducted in various animal models. Delivered through the nose without injections, the company’s intranasal vaccines have the potential to facilitate delivery of vaccines to broad populations, including pediatric and needle-hesitant groups.

BLB-201 is one of the few RSV vaccines to have received Fast Track designation for development for use in children under 2 years old. “FDA’s granting of Fast Track designation for BLB-201 reflects the urgent need for an RSV vaccine,” said Dr. Biao He, founder and CEO of Blue Lake Biotechnology and its parent company, CyanVac LLC. “It is encouraging that FDA recognizes the potential of our vaccine to address this need for children under 2 years old as well as for older adults.” Dr. He added, “This RSV vaccine candidate expands our intranasal vaccine pipeline, and builds on our experience in developing a clinical stage intranasal COVID-19 vaccine.”

Blue Lake is preparing to initiate a Phase 1 trial to assess the safety and immunogenicity of BLB-201 in healthy volunteers. The trial is led by principal investigator Paul Spearman, MD, Albert B. Sabin Professor and Director of Infectious Diseases at Cincinnati Children’s Hospital Medical Center.

Click here to read the full article at Cision

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 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 unmet medical needs. 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.

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Rare Disease Highlight: Fragile X Syndrome

Fragile X Syndrome (FXS) is a dominant genetic disorder that causes a range of symptoms from intellectual disability, developmental delays, and motor dysfunction, to abnormalities in the testes and ovaries (known as gonadal abnormalities) (Garber et al., 2008). While FXS is a rare disease affecting approximately 54,000 people in the US, it is the most common cause of inherited intellectual disability, second in prevalence only to Down syndrome (Coffee et al., 2009; Crawford et al., 1999; Saldarriaga et al., 2014). The cause of FXS is an abnormal expansion of a trinucleotide repeat in the Fragile X Mental Retardation 1 gene (FMR1). Nucleotides are the basic units that compose deoxyribonucleic acid (DNA). A trinucleotide repeat refers to the presence of three nucleotides consecutively repeated within a specific region of the DNA. Typically, the trinucleotide of cytosine-guanine-guanine (CGG) in the FMR1 gene is composed of less than 45 repeats. However, in FXS, the CGG trinucleotide repeats more than 200 times, which is known as a full mutation of FMR1 (Garber et al., 2008). This mutation impairs FMR1’s ability to produce the Fragile X Mental Retardation Protein (FMRP), essential for normal brain development (D’Incal et al., 2022).

The symptoms of FXS vary depending on several characteristics, including how many trinucleotide repeats are present, sex, and magnitude of FMRP deficit (Hagerman et al., 2009; McConkie-Rosell et al., 2005; Merenstein et al., 1996). The FMR1 gene is located on the sex chromosome known as X chromosome. Biologically, females have two X chromosomes while males have only one. Therefore, FXS is more common in males while females present milder symptoms (Verdura et al., 2021). The main symptoms of FXS are (Ciaccio et al., 2017; Lachiewicz et al., 2000; McConkie-Rosell et al., 2005):

  • Intellectual disability
  • Facial deformities, including long narrow face, large head (macrocephaly), and prominent ears and/or jaw
  • Psychomotor dysfunction, including delay in crawling and walking, low muscle tone, poor coordination and balance, spine deformity, and flat feet
  • Social dysfunction, including increased aggressiveness, anxiety, and depression, autism, and sleeping difficulties
  • Organization problems (attention deficit hyperactivity disorder [ADHD])
  • Functional deficits, including lack of hygiene and grooming, and inability to perform household tasks and maintain weight
  • Seizures
  • Heart disease
  • Misalignment of the eyes (strabismus)
  • Recurrent inflammation in the middle ear (otitis media)
  • Gastrointestinal dysfunction

The lifespan of FXS patients is generally unaffected by the disease. However, patients live with significant morbidities such as intellectual disability, functional deficits, social dysfunction, neuropsychological problems, and physical disabilities (Bailey et al., 2009). These morbidities significantly decrease FXS patients’ quality of life since they limit patients’ independence and ability to function without assistance. FXS patients with significant intellectual disability have difficulty learning new tasks, feeding themselves, keeping an organized and/or clean environment, bathing, and dressing. They also have challenges maintaining a satisfactory social life due to their behavioral and social abnormalities. Furthermore, FXS patients display motor dysfunction, restricting daily movement. As a result of the intellectual, social, behavioral, and motor challenges, FXS patients typically require a full-time caregiver and are dependent on others for survival (Ciaccio et al., 2017; Lachiewicz et al., 2000; McConkie-Rosell et al., 2005). Despite the serious nature of FXS, there are no approved curative therapies to date. Treatment of FXS patients focus on symptom management and includes non-pharmacological therapies such as speech and language, behavioral, and physical therapy, as well as pharmacological therapies. The most common drugs used for these patients are stimulants to improve attention deficit and hyperactivity, serotonin reuptake inhibitors to relieve anxiety, and antipsychotics to reduce irritability and aggression (Ciaccio et al., 2017).

FXS has a profound impact in patients’ life and the serious nature of the disease and the lack of effective treatments highlight the unmet medical need for this patient population. Thus, the development of novel pharmacological agents that can improve the quality of life of FXS patients is essential.

References

Bailey, D. B., Jr., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics, 124(2), 527-533. doi:10.1542/peds.2008-2992

Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017). Fragile X syndrome: a review of clinical and molecular diagnoses. Italian Journal of Pediatrics, 43(1), 39. doi:10.1186/s13052-017-0355-y

Coffee, B., Keith, K., Albizua, I., Malone, T., Mowrey, J., Sherman, S. L., & Warren, S. T. (2009). Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet, 85(4), 503-514. doi:10.1016/j.ajhg.2009.09.007

Crawford, D. C., Meadows, K. L., Newman, J. L., Taft, L. F., Pettay, D. L., Gold, L. B., Hersey, S. J., Hinkle, E. F., Stanfield, M. L., Holmgreen, P., Yeargin-Allsopp, M., Boyle, C., & Sherman, S. L. (1999). Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet, 64(2), 495-507. doi:10.1086/302260

D’Incal, C., Broos, J., Torfs, T., Kooy, R. F., & Vanden Berghe, W. (2022). Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network. Cells, 11(8). doi:10.3390/cells11081325

Garber, K. B., Visootsak, J., & Warren, S. T. (2008). Fragile X syndrome. European Journal of Human Genetics, 16(6), 666-672. doi:10.1038/ejhg.2008.61

Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., Picker, J., Gane, L., & Tranfaglia, M. (2009). Advances in the treatment of fragile X syndrome. Pediatrics, 123(1), 378-390. doi:10.1542/peds.2008-0317

Lachiewicz, A. M., Dawson, D. V., & Spiridigliozzi, G. A. (2000). Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet, 92(4), 229-236. doi:10.1002/(sici)1096-8628(20000605)92:4<229::aid-ajmg1>3.0.co;2-k

McConkie-Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R. L., & Pettersen, B. J. (2005). Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns, 14(4), 249-270. doi:10.1007/s10897-005-4802-x

Merenstein, S. A., Sobesky, W. E., Taylor, A. K., Riddle, J. E., Tran, H. X., & Hagerman, R. J. (1996). Molecular-clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet, 64(2), 388-394. doi:10.1002/(sici)1096-8628(19960809)64:2<388::Aid-ajmg31>3.0.Co;2-9

Saldarriaga, W., Tassone, F., González-Teshima, L. Y., Forero-Forero, J. V., Ayala-Zapata, S., & Hagerman, R. (2014). Fragile X syndrome. Colomb Med (Cali), 45(4), 190-198.

Verdura, E., Pérez-Cano, L., Sabido-Vera, R., Guney, E., Hyvelin, J.-M., Durham, L., & Gomez-Mancilla, B. (2021). Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments. Frontiers in Psychiatry, 12. doi:10.3389/fpsyt.2021.722378

BioPharma Global is a mission-driven corporation 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 unmet medical needs. 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.

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Regeneron’s Evinacumab Fights Ultra-Rare Form of High Cholesterol in Kids

Regeneron Pharmaceuticals shared positive results from its Phase III trial of a candidate drug for children with homozygous familial hypercholesterolemia (HoFH), a rare, life-threatening condition characterized by elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD.

The latest Phase III trial results evaluated Evkeeza to treat HoFH, an inherited disease that is also the most severe form of familial hypercholesterolemia. HoFH affects one in 160,000 to 300,000 people worldwide, and around 1,300 people in the United States. Those diagnosed with the disease, including patients as young as teenagers, are at high risk for premature atherosclerotic disease and life-threatening cardiac events.

Evekeeza (evinacumab) was developed using Regeneron’s VelocImmune technology, which uses a genetically-engineered mouse platform with a humanized immune system to create fully human antibodies. It’s a fully human monoclonal antibody that binds to and blocks ANGPTL3, inhibiting lipoprotein lipase and endothelial lipase and regulating LDL-C and other circulating lipids. 

Click here to read the full article at BioSpace

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 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 unmet medical needs. 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.