Sex linkage

Poxel Provides Corporate Update and Reports Cash and Revenue for the Third Quarter and Nine Months 2021

Wednesday, October 20, 2021 - 4:45pm

During the third quarter, we continued to make significant progress and accomplished a number of important clinical and corporate objectives.

Key Points: 
  • During the third quarter, we continued to make significant progress and accomplished a number of important clinical and corporate objectives.
  • We are extremely proud to have brought TWYMEEG to patients in Japan through our fruitful partnership with Sumitomo Dainippon Pharma.
  • Third Quarter and Nine Months Ended September 30, 2021 Cash and Revenue
    As of September 30, 2021, cash and cash equivalents were EUR 37.2 million (USD 43.2 million), as compared to EUR 40.2 million (USD 49.4 million) at December 31, 2020.
  • In July 2021, Poxel received a EUR 13.2 million2 milestone payment from its partner Sumitomo Dainippon Pharma for the Imeglimin approval obtained on June 23, 2021.

Renowned Clinician-Scientist Joins Division of Rheumatology at NYU Langone Health

Monday, October 18, 2021 - 3:00pm

NEW YORK, Oct. 18, 2021 /PRNewswire/ -- Nationally recognized for his work studying a novel inflammatory disorder known as VEXAS, David B. Beck, MD, PhD , has joined the Division of Rheumatology at NYU Langone.

Key Points: 
  • NEW YORK, Oct. 18, 2021 /PRNewswire/ -- Nationally recognized for his work studying a novel inflammatory disorder known as VEXAS, David B. Beck, MD, PhD , has joined the Division of Rheumatology at NYU Langone.
  • Dr. Beck previously worked as a postdoctoral fellow and clinical scholar at the National Institutes of Health (NIH).
  • At NYU Langone, he has dual appointments as an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology , and is a member of the Center for Human Genetics and Genomics and the Division of Rheumatology.
  • An alumnus of Brown University, Dr. Beck earned his medical degree and PhD in biochemistry from NYU School of Medicine.

Advancements in reproductive medicine available at Shady Grove Fertility (SGF) can reduce the inheritance of genetic diseases like breast cancer

Thursday, October 14, 2021 - 1:45pm

Individuals and couples with known genetic diseases can turn to Shady Grove Fertility (SGF) to undergo in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects(PGT-M) to reduce the risk of passing genetic mutations to future offspring.

Key Points: 
  • Individuals and couples with known genetic diseases can turn to Shady Grove Fertility (SGF) to undergo in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects(PGT-M) to reduce the risk of passing genetic mutations to future offspring.
  • Additionally, patients at risk for dominant gene mutations, such as breast cancer or inherited forms of colon cancer, can have individualized testing for these diseases.
  • While Rose is not a carrier for the breast cancer gene, she is a carrier of a rare X-linked genetic mutation called Wiskott-Aldrich syndrome.
  • We are so fortunate to live in a world where we can now reduce the inheritance of deadly genetic diseases via IVF.

Poxel Announces its Participation at Upcoming Scientific Conferences Related to Adrenoleukodystrophy (ALD)

Monday, September 27, 2021 - 7:30am

POXEL SA (Euronext POXEL - FR0012432516), a clinical stage biopharmaceutical company developing innovative treatments for chronic diseases with metabolic pathophysiology, including non-alcoholic steatohepatitis (NASH) and rare disorders, today announced that the Poxel team will participate at several upcoming scientific conferences related to X-linked adrenoleukodystrophy (ALD), a severe orphan neurometabolic disease with no approved therapies.

Key Points: 
  • POXEL SA (Euronext POXEL - FR0012432516), a clinical stage biopharmaceutical company developing innovative treatments for chronic diseases with metabolic pathophysiology, including non-alcoholic steatohepatitis (NASH) and rare disorders, today announced that the Poxel team will participate at several upcoming scientific conferences related to X-linked adrenoleukodystrophy (ALD), a severe orphan neurometabolic disease with no approved therapies.
  • Poxel's scientific team will present data and plans pertaining to ALD that align with the recently announced new strategic direction of increasing Poxels focus on rare metabolic diseases.
  • Poxel is committed to focus its pipeline on high value, rare metabolic indications and NASH, with the goal of creating pipeline synergies, maximizing resources, and driving shareholder value.
  • Listed on Euronext Paris, Poxel is headquartered in Lyon, France, and has subsidiaries in Boston, MA, and Tokyo, Japan.

ADMA Biologics Reports Record Second Quarter 2021 Financial Results and Highlights Recent Progress and Accomplishments

Wednesday, August 11, 2021 - 9:05pm

RAMSEY, N.J. and BOCA RATON, Fla., Aug. 11, 2021 (GLOBE NEWSWIRE) -- ADMA Biologics, Inc. (Nasdaq: ADMA) (“ADMA” or the “Company”), an end-to-end commercial biopharmaceutical company dedicated to manufacturing, marketing and developing specialty plasma-derived biologics, today reported financial results for the three months ended June 30, 2021, its fiscal second quarter, and provided an overview of recent progress and accomplishments.

Key Points: 
  • ET
    RAMSEY, N.J. and BOCA RATON, Fla., Aug. 11, 2021 (GLOBE NEWSWIRE) -- ADMA Biologics, Inc. (Nasdaq: ADMA) (ADMA or the Company), an end-to-end commercial biopharmaceutical company dedicated to manufacturing, marketing and developing specialty plasma-derived biologics, today reported financial results for the three months ended June 30, 2021, its fiscal second quarter, and provided an overview of recent progress and accomplishments.
  • ADMA continues to achieve milestones and execute on its commercial and operational strategies as evidenced by the strong second quarter financial results and regulatory successes.
  • Select Second Quarter 2021 Achievements & Recent Corporate Developments:
    Continued Commercial Execution: Achieved second quarter 2021 total revenues of $17.8 million, compared to $7.8 million for the second quarter of 2020, reflecting a 129% increase.
  • ADMA will host a conference call today, August 11, 2021, at 4:30 p.m. Eastern Time, to discuss the fiscal second quarter 2021 financial results and recent corporate updates.

ACMG Provides Roadmap for Screening Couples Before or During Pregnancy: New ACMG Clinical Practice Resource for Autosomal Recessive and X-linked Conditions

Tuesday, July 20, 2021 - 1:23pm

The paper, " Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) ," was published in ACMG's official journal, Genetics in Medicine.

Key Points: 
  • The paper, " Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) ," was published in ACMG's official journal, Genetics in Medicine.
  • Carrier screening is used to identify individuals or couples who are at-risk to have a child with an autosomal recessive or X-linked genetic disorder.
  • In 2015, the ACMG, along with other professional organizations, published a "Points to Consider" joint statement focused on expanded carrier screening.
  • Genetic conditions qualified for inclusion in the Tier 3 carrier screening are listed in the Clinical Practice Resource document.

Fortress Biotech Announces Publication of Study on Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease in Molecular Genetics and Metabolism Reports

Wednesday, July 29, 2020 - 12:30pm

The study assessed the analytic validity of an ATP7A targeted next generation DNA sequencing assay as a potential newborn screen for Menkes disease, a X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase.

Key Points: 
  • The study assessed the analytic validity of an ATP7A targeted next generation DNA sequencing assay as a potential newborn screen for Menkes disease, a X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase.
  • For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms.
  • The results of our study support proof-of-concept that primary DNA-based NBS would accurately detect Menkes disease, a disorder for which biochemical detection in the newborn period is currently unavailable.
  • Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of copper transporter ATP7A.

Fortress Biotech Announces Publication of Study on Estimated Birth Prevalence of Menkes Disease in Molecular Genetics and Metabolism Reports

Thursday, June 11, 2020 - 1:00pm

The study evaluated the prevalence of Menkes disease, an often lethal, if untreated, X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase.

Key Points: 
  • The study evaluated the prevalence of Menkes disease, an often lethal, if untreated, X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase.
  • Assuming Hardy-Weinberg genetic equilibrium, the allelic frequency of loss-of-function variants suggests a minimum birth prevalence for Menkes disease of 1 in 34,810 males, higher than previously recognized.
  • If likely pathogenic missense variants are included, the estimated birth prevalence could potentially be as high as 1 in 8,664 live male births.
  • Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of copper transporter ATP7A.

PANTHERx® Specialty Pharmacy Selected by Ultragenyx to Distribute Crysvita

Thursday, June 7, 2018 - 1:45pm

PITTSBURGH, June 7, 2018 /PRNewswire/ --PANTHERx Specialty Pharmacy (PANTHERx), THE Rare Disease Specialty Pharmacy, announced that it has been selected by Ultragenyx Pharmaceutical, Inc. to distribute Crysvita (burosumab-twza), the very first FDA-approved therapy for children and adults with x-linked hypophosphatemia (XLH).

Key Points: 
  • PITTSBURGH, June 7, 2018 /PRNewswire/ --PANTHERx Specialty Pharmacy (PANTHERx), THE Rare Disease Specialty Pharmacy, announced that it has been selected by Ultragenyx Pharmaceutical, Inc. to distribute Crysvita (burosumab-twza), the very first FDA-approved therapy for children and adults with x-linked hypophosphatemia (XLH).
  • PANTHERx is one of a select few specialty pharmacies providing nationwide access to the medication.
  • Crysvita (burosumab-twza) is the first drug approved to treat adults and children ages one year and older with x-linked hypophosphatemia (XLH).
  • PANTHERx works daily to Reinvent Specialty, Revolutionize Pharmacy, and Redefine Care, by developing focused solutions, bold innovations, and novel clinical services associated with life-transforming therapies.