Orphanet Journal of Rare Diseases

Abeona Therapeutics Submits Biologics License Application to U.S. FDA Seeking Priority Review and Approval of EB-101 for the Treatment of Patients with Recessive Dystrophic Epidermolysis Bullosa

Retrieved on: 
Tuesday, September 26, 2023
Biologics license application, Priority review, ISID, RDEB, Quality of life, Concha bullosa, Regenerative medicine, Rare, Orphanet Journal of Rare Diseases, Patient, Tissue Engineering and Regenerative Medicine International Society, FDA, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, BLA, Food, Safety, Wound healing, Pharmaceutical industry, New Drug Application

As part of the submission, Abeona requested a Priority Review, which, if granted, would shorten the FDA’s review period to six months from the filing acceptance of the BLA, instead of 10 months under standard review.

Key Points: 
  • As part of the submission, Abeona requested a Priority Review, which, if granted, would shorten the FDA’s review period to six months from the filing acceptance of the BLA, instead of 10 months under standard review.
  • “We appreciate the FDA’s level of engagement and constructive guidance in the months leading up to the pre-BLA meeting.
  • If accepted with Priority Review, Abeona expects potential BLA approval in the second quarter of 2024, at which time, Abeona believes that it would be eligible to receive a Priority Review Voucher.
  • EB-101 has been granted Rare Pediatric Disease, Regenerative Medicine Advanced Therapy, Breakthrough Therapy and Orphan Drug designations.

Rhythm Pharmaceuticals Reports Second Quarter 2023 Financial Results and Business Update

Retrieved on: 
Tuesday, August 1, 2023
ENDO, LEPR, Completeness, GCC, Marketing, Food and Drug Administration, Prescription, G&A, Ratio, Bardet–Biedl syndrome, CHI, Data analysis, Acquisition, Caregiver burden, Patient, Investment, Hyperpigmentation, Body mass index, Ageing, R, POMC, MC4R, BMI, FDA, IND, Caregiver, D, Polyphagia, Interest, Publication, Webcast, Obesity, MC1R, Clinical trial, Orphanet Journal of Rare Diseases, Date, Rare, Phase 3, PCSK1, Physician, Food, Pharmaceutical industry, Nursing, Life insurance, Video game, Reinsurance, Cryptocurrency, BBS, Rhythm, S

-- Enrollment ongoing in pivotal Phase 3 trial evaluating setmelanotide in hypothalamic obesity; based on rapid progress, study now expected to be fully enrolled by the end of 2023 --

Key Points: 
  • ET --
    BOSTON, Aug. 01, 2023 (GLOBE NEWSWIRE) -- Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a global 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, today reported financial results and provided a business update for the second quarter ended June 30, 2023.
  • R&D Expenses: R&D expenses were $33.5 million in the second quarter of 2023, as compared to $31.5 million in the second quarter of 2022.
  • S,G&A Expenses: S,G&A expenses were $30.0 million for the second quarter of 2023, as compared to $22.3 million for the second quarter of 2022.
  • ET today to review its second quarter 2023 financial results and recent business activities.

Rhythm Pharmaceuticals Announces Two Publications Detailing Burden of Hyperphagia and Obesity on Patients and Caregivers Living with Bardet-Biedl Syndrome

Retrieved on: 
Wednesday, July 19, 2023
Workforce, Faculty, University of Alberta, Survey, Obesity, Food, University, Caregiver, Sleep, Research, Negotiation, Orphanet Journal of Rare Diseases, Early-onset Alzheimer's disease, Rare, Publication, Work, Patient, Caregiver burden, Syndrome, MC4R, United Kingdom, Multi, University of Melbourne Faculty of Medicine, Dentistry and Health Sciences, Medicine, Nursing, Residential care, Polyphagia, Rhythm, Bardet–Biedl syndrome, BBS

“These results demonstrate that hyperphagia and severe obesity associated with BBS negatively affect performance in school, work and social relationships.

Key Points: 
  • “These results demonstrate that hyperphagia and severe obesity associated with BBS negatively affect performance in school, work and social relationships.
  • Caregivers of patients with BBS reported that hyperphagia has broad impacts, well beyond contributing to obesity.
  • Hyperphagia had at least a moderate negative impact on most patients’ mood/emotions (56%), sleep (54%), school (57%), leisure (62%), and familial relationships (51%).
  • “ Caregiver Burden in Bardet-Biedl Syndrome: Findings from the CARE-BBS Study ,” quantifies caregiver burden associated with obesity and hyperphagia.

Genomenon Wins Best of Show Award at Bio-IT World 2023 Conference and Expo

Retrieved on: 
Tuesday, May 30, 2023
GLP, Prevalence, ANN, Clinical trial, Rare, Bluebird bio, Orphanet Journal of Rare Diseases, Data, Genetic distance, Conference, AR, DSM-IV codes, Pharmaceutical industry, Vaccine

ANN ARBOR, Mich., May 30, 2023 /PRNewswire-PRWeb/ -- Genomenon Inc., a genomic intelligence company, today announced that it was awarded Best of Show at Bio-IT World Conference and Expo 2023 for its independent genetic disease assessment, which starts with calculating rare disease prevalence. Each year, the Best of Show Awards program at Bio-IT World recognizes innovative product solutions to important problems facing the Life Sciences industry. Genomenon's offering was one of 33 new products considered for this prestigious award at last week's 22nd annual event in Boston, MA.    

Key Points: 
  • ANN ARBOR, Mich., May 30, 2023 /PRNewswire-PRWeb/ -- Genomenon Inc. , a genomic intelligence company, today announced that it was awarded Best of Show at Bio-IT World Conference and Expo 2023 for its independent genetic disease assessment, which starts with calculating rare disease prevalence.
  • Each year, the Best of Show Awards program at Bio-IT World recognizes innovative product solutions to important problems facing the Life Sciences industry.
  • Genomenon's offering was one of 33 new products considered for this prestigious award at last week's 22nd annual event in Boston, MA.
  • In a recent application, Inozyme Pharma partnered with Genomenon to update the disease prevalence estimation for ENPP1 Deficiency.

Abeona Therapeutics Reports Full Year 2022 Financial Results and Provides Corporate Update

Retrieved on: 
Wednesday, March 29, 2023
Biologics license application, CLN1, Business development, PRV, Priority review, ISID, Drug discovery, Rett syndrome, Stargardt, Bristol Myers Squibb, Holocene, Concha bullosa, AAV, MSHS, Rare, Dermatology, Eye, Orphanet Journal of Rare Diseases, Patient, Investment, International Society for Infectious Diseases, Ophthalmology, ADOA, Congress, Retinoschisis, FDA, Research, Therapy, Regulation of tobacco by the U.S. Food and Drug Administration, IND, Global marketing, BLA, Food, Wound healing, Medical imaging, Pharmaceutical industry, Vaccine, Cryptocurrency, Stargardt disease, RDEB, List of Roman birth and childhood deities

NEW YORK and CLEVELAND, March 29, 2023 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO) today reported financial results for the full year of 2022 and provided an update on progress toward achieving key corporate objectives. The Company will host a conference call and webcast today, March 29, 2023, at 8:30 a.m. ET, to discuss its financial results and business update.

Key Points: 
  • ET, to discuss its financial results and business update.
  • The Company currently plans to submit a BLA for EB-101 in late second quarter to early third quarter of 2023.
  • Abeona appointed Dmitriy Grachev, M.D., Ph.D., as Chief Medical Officer and Madhav Vasanthavada, Ph.D., M.B.A. as Vice President, Business Development.
  • Abeona Therapeutics will host a conference call and webcast today, March 29, 2023, at 8:30 a.m.

Rhythm Pharmaceuticals Announces Publication of Analysis of Quality of Life Improvements from Phase 3 Clinical Trial in Bardet-Biedl Syndrome

Retrieved on: 
Monday, January 23, 2023
Degenerative disease, Very early onset inflammatory bowel disease, Body mass index, Impact, Polyphagia, BBS, Orphanet Journal of Rare Diseases, Human, Bardet–Biedl syndrome, Quality of life, Medicine, University of Melbourne Faculty of Medicine, Dentistry and Health Sciences, Patient, Obesity, University of Alberta, FDA, Hope, Rhythm, Precision medicine, Faculty, Life, Adolescence, University, Pharmaceutical industry, MC4R, HRQOL

BOSTON, Jan. 23, 2023 (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, today announced that patients with Bardet-Biedl syndrome (BBS) and obesity who participated in the company’s global Phase 3 clinical trial of setmelanotide reported clinically meaningful improvements across multiple health-related quality of life (HRQOL) measures based on an analysis published in the Orphanet Journal of Rare Diseases.

Key Points: 
  • “Living with hyperphagia and severe obesity associated with BBS presents a clinically significant burden on patients and families,” said corresponding author Prof. Andrea M. Haqq, M.D., Department of Pediatrics, Faculty of Medicine & Dentistry, University of Alberta.
  • For the 52-week analysis, 9 patients younger than 18 years, or their caregiver, reported a significant and clinically meaningful change in their quality of life with a mean change from baseline of +11.2 points on the Pediatric Quality of Life Inventory (PedsQL) measure.
  • In addition, 11 adult patients who completed the Impact of Weight on Quality of Life Questionnaire-Lite (IWQOL-Lite) achieved a significant and clinically meaningful improvement in their weight related quality of life with a mean change from baseline of +12.0 points.
  • IWQOL-Lite score was significantly correlated with changes in percent body weight (P=0.0037) and body mass index (P=0.0098).

Inozyme Pharma Announces Investor and Analyst Event and Highlights 2022 Progress

Retrieved on: 
Monday, January 9, 2023
Pyrophosphate, Orphanet Journal of Rare Diseases, PXE, Degenerative disease, Caregiver, Master of Science, Mutation, PLOS One, PLOS, Dermatology, Western literature, Safety, Precision medicine, Hospital, ABCC6, Biology, Diagnosis, Therapy, Patient, Prevalence, Human Mutation, Research, Disease, Publication, ENPP1, Natural history study, Whole genome sequencing, Genetic distance, MBA, Infant, NIH, Dietary supplement, Pharmaceutical industry

BOSTON, Jan. 09, 2023 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (Nasdaq: INZY), a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of pathologic mineralization and intimal proliferation, today announced that it will share topline pharmacokinetic, pharmacodynamic (PK/PD) and safety data from the ongoing Phase 1/2 clinical trials of INZ-701 in ENPP1 Deficiency and ABCC6 Deficiency at a virtual Investor and Analyst Event on Thursday, Feb. 16, 2023.

Key Points: 
  • We also saw promising PPi elevation in our ABCC6 Deficiency trial, with a rapid initial increase at the lowest dose of INZ-701.
  • The Company will share topline pharmacokinetic, pharmacodynamic (PK/PD) and safety data from ongoing Phase 1/2 trials of INZ-701 in ENPP1 Deficiency and ABCC6 Deficiency.
  • The event will also feature presentations from members of the Inozyme management team, as well as from key opinion leaders in ENPP1 Deficiency and ABCC6 Deficiency.
  • The webcast will be accessible through the Investor Relations section of Inozyme’s website under events and will be available for a limited time following the event.

Inozyme Pharma Announces Peer-Reviewed Publication Revealing Increased Prevalence of ENPP1 Deficiency

Retrieved on: 
Monday, December 5, 2022
Pediatrics, Master of Science, Physician, Orphanet Journal of Rare Diseases, Diagnosis, Data, Mortality, Prevalence, Osteomalacia, Hospital, Genomics, Degenerative disease, Cancer, Myocardial infarction, Stroke, Skeleton, Blood, Knowledge, Education, Hearing loss, Rickets, Disease, NIH, MBA, Research, Database, Generalized arterial calcification of infancy, Patient, Therapy, Pharmaceutical industry

BOSTON, Dec. 05, 2022 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (Nasdaq: INZY), a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of pathologic mineralization and intimal proliferation, today announced the publication of an article titled “Estimation of ENPP1 Deficiency Genetic Prevalence Using a Comprehensive Literature Review and Population Databases” in the Orphanet Journal of Rare Diseases. Leading disease experts Carlos Ferreira, M.D., of the National Institutes of Health (NIH) and Frank Rutsch, M.D., of Münster University Children’s Hospital, together with Genomenon, an AI-driven genomics company, analyzed the latest genomics data and found the estimated prevalence of ENPP1 Deficiency to be 1 in 64,000 pregnancies, more than tripling the prior estimate1.

Key Points: 
  • “Our medical field team’s disease awareness, education, and patient identification efforts suggested that the number of patients with ENPP1 Deficiency has been vastly underestimated.
  • “Given the higher prevalence of ENPP1 Deficiency, it becomes obvious that many affected individuals remain undiagnosed.
  • “The prevalence data were gathered using a comprehensive database of genomic evidence, providing an unprecedented view into how many people are born with ENPP1 Deficiency worldwide.
  • INZ-701 is currently in Phase 1/2 clinical trials for the treatment of ENPP1 Deficiency and ABCC6 Deficiency.

New Study Shows Comprehensive Genomic Evidence is Critical for Calculating Rare Disease Prevalence

Retrieved on: 
Thursday, December 15, 2022
NIH, Degenerative disease, Therapy, Rickets, Generalized arterial calcification of infancy, Orphanet Journal of Rare Diseases, ENPP1, Doctor of Philosophy, Blood, Patient, Prevalence, Cancer, Research, Knowledge, ANN, Disease, Hearing loss, Genomics, Osteomalacia, Hospital, Discovery, Myocardial infarction, Stroke, Genetic disorder, Pharmaceutical industry, MD

ANN ARBOR, Mich., Dec. 15, 2022 /PRNewswire-PRWeb/ -- Genomenon, Inc., an AI-driven genomics company, today announced the publication of a paper in the Orphanet Journal of Rare Diseases that calculates the prevalence of ENPP1 deficiency—a disease claiming more than half of all infants within the first few months of life—to be more than triple the prior estimate. The study, conducted by the Genomenon scientific team and leading disease experts from the National Institutes of Health (NIH) and Münster University Children's Hospital, highlights a core strength of Genomenon's rigorous methodology for identifying and classifying genetic data needed to improve rare disease prevalence calculations.

Key Points: 
  • The study, conducted by the Genomenon scientific team and leading disease experts from the National Institutes of Health (NIH) and Mnster University Children's Hospital, highlights a core strength of Genomenon's rigorous methodology for identifying and classifying genetic data needed to improve rare disease prevalence calculations.
  • "Discovery of this higher prevalence rate aptly demonstrates how our exhaustive knowledgebase of expertly curated genomic evidence supports pharmaceutical companies that are pioneering development of therapies for orphan diseases."
  • Traditional methods for estimating prevalence rely on clinical data, which can be unreliable for rare diseases such as ENPP1 deficiency that are difficult to diagnose.
  • Genomenon is an AI-driven genomics company focused on making genomic information actionable for patients with rare genetic diseases and cancer.

Millions Suffer From Untreatable Rare Diseases While Medical Costs Skyrocket

Retrieved on: 
Monday, December 12, 2022
Travel, Degenerative disease, Pevsner, Retirement, Confusion, Person, State Institute for Drug Control, Drugs Controller General of India, Rare disease, Interest group, Diagnosis, George Frideric Handel, Drug discovery, National Policy, Volume, Idea, Hanson, Patient, HEALTH, Garrison, Research, Dave's Picks Volume 18, Disease, Child, Drug development, Mental health, Health care, Orphanet Journal of Rare Diseases, World Economic Forum, Caregiver, Clinical trial, Page, DCGI, McMurry, Value-based health care, Pharmaceutical industry, Health insurance, Medical device, Pariser, Health, Cederroth

HERNDON, Va., Dec. 12, 2022 /PRNewswire-PRWeb/ -- The economic burden of rare diseases has been vastly underestimated. A retrospective study of medical and insurance records indicates medical costs for people with a rare disease are three to five times greater than for other medical conditions.(1) Additional studies identified inpatient care, longer lengths of stay, higher charges per admission, and high readmission charges as contributing to the disproportionate direct costs of $768 billion for rare disease patients compared to $880 billion for all other conditions combined.(2) IndoUSrare is a U.S.-based humanitarian nonprofit 501(c)(3) tax-exempt public charity organization dedicated to addressing the unmet needs of patients living with rare diseases around the world.

Key Points: 
  • Impacting about 30 million people in the United States alone, the direct and indirect medical costs of rare diseases approach $1 trillion annually.
  • Meanwhile, individuals living with rare diseases are often misdiagnosed, which prolongs their suffering as they are burdened personally and financially.
  • A retrospective study of medical and insurance records indicates medical costs for people with a rare disease are three to five times greater than for other medical conditions.
  • Still, the National Policy for Rare Diseases (NPRD) has identified three groups of rare diseases based on their treatability, treatment availability, and status.