UCL Great Ormond Street Institute of Child Health

Four-Year Follow-Up Data for Genentech’s Evrysdi Show Continued Increase in Number of Children With a Severe Form of Spinal ​Muscular ​Atrophy (SMA)​ Able to Sit, Stand and Walk

Retrieved on: 
Friday, June 30, 2023
Biotechnology, Consumer, Health, Pharmaceutical, Children, SMN, SMA, Disease, PTC Therapeutics, SMN2, PTC, Aes, Roche, Cure, Medicine, ROG, RO, Bayley Scales of Infant Development, Walking, Patient, Infant, Ageing, Upper respiratory tract infection, Therapy, Pneumonia, Mouth, UCL Great Ormond Street Institute of Child Health, Birth control, Pharmaceutical industry, Genentech, Fever, Risdiplam

After four years of treatment with Evrysdi, many of the babies, now young children, continued to improve their ability to sit, stand and walk without support.

Key Points: 
  • After four years of treatment with Evrysdi, many of the babies, now young children, continued to improve their ability to sit, stand and walk without support.
  • All the Evrysdi-treated children who were alive at the time of the primary analysis were still alive at month 48.
  • Additionally, the majority of infants maintained their ability to feed by mouth and swallow up to month 48.
  • Genentech leads the clinical development of Evrysdi as part of a collaboration with the SMA Foundation and PTC Therapeutics.

Rhythm Pharmaceuticals Presents New Disease Burden Findings and Analyses of Setmelanotide Data in Children and Adolescents with Rare MC4R Pathway Diseases at ESPE 2022

Retrieved on: 
Monday, September 19, 2022
Adult, Bardet–Biedl syndrome, Endocrine Society, Leptin receptor, Microdeletion syndrome, Department, MC4R, FDA, UCL Great Ormond Street Institute of Child Health, MD, Pediatrics, Adolescence, Poster, European Society for Medical Oncology, Obesity, Patient, Mental health, BBS, POMC, Very early onset inflammatory bowel disease, Nasdaq, Ageing, Caregiver, EC, Polyphagia, ESPE, LEPR, GLOBE, Pediatric endocrinology, Disease, Pharmaceutical industry, Residential care, Setmelanotide, Pediatric nursing, Proopiomelanocortin, Rhythm

BOSTON, Sept. 19, 2022 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company focused on transforming the lives of patients and their families living with hyperphagia and severe obesity caused by rare melanocortin-4 receptor (MC4R) pathway diseases, announced the presentation of new findings on the burden of hyperphagia and obesity on patients with Bardet-Biedl syndrome (BBS) and their caregivers during the 60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2022) held in Rome on Sept. 15 to 17.

Key Points: 
  • Rhythm and its collaborators delivered one poster and three oral presentations during ESPE 2022, including data from new analyses that showed setmelanotide achieved substantial weight loss benefit in adolescent and pediatric patients with rare MC4R pathway diseases across three separate pivotal trials.
  • CARE-BBS participants at the time of the survey were residents of the United States (n=60), Canada (n=62), United Kingdom (n=59) or Germany (n=61).
  • In addition, the findings illustrate how the negative impact of hyperphagia on caregivers affects family dynamics, emotional well-being, and caregiver employment.
  • Rhythm is a commercial-stage biopharmaceutical company committed to transforming the lives of patients and their families living with hyperphagia and severe obesity caused by rare melanocortin-4 receptor (MC4R) pathway diseases.

Purespring Therapeutics Expands Senior Team with Key Appointments

Retrieved on: 
Tuesday, July 26, 2022
Orchard, Novartis, University, Kidney disease, Kidney, UCL Great Ormond Street Institute of Child Health, Drug, Chronic kidney disease, Rheumatoid arthritis, VP, Research, Rheumatology, Disease, BTG, Therapy, Program, Microdeletion syndrome, Leadership, ISCB Senior Scientist Award, GSK, Taunton, Senior, Medical director, Head, AstraZeneca, CMC, Kidney development, Nephrology, District Programme Manager, Pharmaceutical industry, Management, Pille, Child

Most recently, Nick was Senior Director at Orchard Therapeutics, before which he worked at global pharmaceutical companies BTG and Novartis.

Key Points: 
  • Most recently, Nick was Senior Director at Orchard Therapeutics, before which he worked at global pharmaceutical companies BTG and Novartis.
  • Andreea Iuras joins from Orchard Therapeutics where she was Senior Project Manager.
  • Prior to this, she held senior roles at gene therapy start-up Autolus as well as GSK and AstraZeneca.
  • In addition, Purespring has appointed Dimple Raval as Finance Business Partner, Kushal Paudel as Senior Scientist and Umar Ishaque as Associate Scientist, critical supporting roles that augment those senior hires.

Carbon Biosciences Launches with $38 Million Series A Financing to Advance Novel Gene Therapy Platform and Pipeline

Retrieved on: 
Tuesday, June 21, 2022
Research, Finance, Genetics, Clinical Trials, Professional Services, Biotechnology, Health, Other Science, Science, Yan, Beverly Davidson, Partner, MBBS, University, Director, LinkedIn, Pressure, CFTR, Vertex, Inflammation, National Institute of Dental and Craniofacial Research, Therapy, Company, University College London, Tissue, AAV, Technology, CEO, University of Iowa, MRCP, Founder, Lung, Alnylam Pharmaceuticals, Board, University of Kansas, Parvoviridae, Industry, Tropism, UCL Great Ormond Street Institute of Child Health, Chairperson, FRCP, List of life sciences, Lists of diseases, Patient, Multimedia, Cystic fibrosis, Senior, CBO, Cystic Fibrosis Foundation, Gene, Research, Program, Infection, Doctor of Philosophy, UCL, Center, Roy J. and Lucille A. Carver College of Medicine, Pharmaceutical industry, Management, Pediatric nursing, Photis Kontoglou, Molecular medicine, Engelhardt, Microbiology

Carbon Biosciences (Carbon), a Longwood Fund founded biotech company and emerging leader in the development of novel parvovirus-derived gene therapies, today announced a $38 million Series A financing led by Agent Capital.

Key Points: 
  • Carbon Biosciences (Carbon), a Longwood Fund founded biotech company and emerging leader in the development of novel parvovirus-derived gene therapies, today announced a $38 million Series A financing led by Agent Capital.
  • Carbon is harnessing novel parvovirus vectors that can deliver larger gene therapy payloads with enhanced tissue specificity and with minimal neutralizing immunity.
  • Carbons technology will enable a diversified pipeline with potential applications across the wide range of tissues impacted in many unaddressed diseases.
  • Carbons scientific co-founders and scientific advisory board members are among the most experienced thought leaders in the gene therapy field.

Rhythm Pharmaceuticals Presents First-ever Data Showing Improvements in Health-related Quality of Life for Patients Living with Bardet-Biedl Syndrome at ObesityWeek® 2021

Retrieved on: 
Monday, November 1, 2021
Linda, EMANATE, Gene, Health informatics, Microdeletion syndrome, Marshfield Clinic, Government budget balance, Pediatrics, SH2B1, Lists of diseases, BBS, Sigma-1 receptor, GLOBE, NIHR, Research, Body mass index, Anti-obesity medication, University College London, SIM1, Publication, Clinical research center, Pediatric endocrinology, Polyphagia, Department, Medical Affairs Bureau, UCL Great Ormond Street Institute of Child Health, Faculty, University of Cambridge, SRC1, MC4R, BMI, Nasdaq, All, Interdisciplinary Association for Population Health Science, University, SCM, Endocrine Society, Impact, ESPE, Associate Director of National Intelligence and Chief Information Officer, Weight loss, Doctor of Science, Review, URO, Adult, European Society for Medical Oncology, MMSc, Pharmaceutical industry, Medicine, Medical imaging, Life insurance, Medical device

BOSTON, Nov. 01, 2021 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a commercial-stage biopharmaceutical company committed to transforming the care of people living with rare genetic diseases of obesity, this week presented the first-ever data on the health-related quality of life (HRQOL) and experience of patients with Bardet-Biedl syndrome (BBS) who were treated in its Phase 3 trial of setmelanotide at The Obesity Society’s ObesityWeek®, a virtual conference that runs from Nov. 1 to 5.   

Key Points: 
  • Elizabeth Forsythe, Ph.D., Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, University College London, presented a poster entitled, Quality of Life in Patients with Bardet-Biedl Syndrome in a Setmelanotide Phase 3 Trial.
  • Rhythm also presented new hunger reduction data from its exploratory Phase 2 Basket Trial evaluating setmelanotide in patients with obesity due to variants of the SRC1 gene or the SH2B1 gene.
  • Rhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity.
  • IMCIVREE is the first-ever FDA-approved and EC- and MHRA-authorized therapy for patients with these rare genetic diseases of obesity.