Primary immunodeficiency

Genomenon Partners with Pharming to Advance APDS Diagnosis

Retrieved on: 
Thursday, May 2, 2024
Mortality, American College, Probability, Laboratory, ANN, Survival, APDS, Disorder, Partnership, Genetic testing, PIK3R1, Molecular diagnostics, Disease, ACMG, Lymphoma, Patient, Bronchiectasis, AMP, Primary immunodeficiency, Caregiver, Genome, Immunodeficiency, Diagnosis, Infection, PIK3CD, Medicine, Activated, Medical genetics, Gene, Medical device

ANN ARBOR, Mich., May 2, 2024 /PRNewswire-PRWeb/ -- Genomenon, a genomic intelligence company, has partnered with Pharming Group in an effort to make variant data on the PIK3CD and PIK3R1 genes available to genetic testing labs, as well as clinicians and researchers, worldwide. This data enables accurate molecular diagnoses and supports the precise medical management of the disease. The partnership also improves the ability of diagnostic laboratories and clinicians to resolve variants of uncertain significance (VUSs) and advances Genomenon's mission to curate the human genome.

Key Points: 
  • APDS, or Activated PI3K delta syndrome, is a rare primary immunodeficiency affecting approximately 1 to 2 people per million worldwide.
  • As the symptoms of APDS can be associated with a variety of conditions, patients typically experience a median 7-year diagnostic delay.
  • "Through our AI-driven technology and genomic expertise, Genomenon has produced the world's most comprehensive variant landscape on PIK3CD and PIK3R1.
  • This curated genetic dataset is being made available to the community through Genomenon's Mastermind Genomic Intelligence Platform to help inform and accelerate the diagnosis for patients with APDS," said Mike Klein, Genomenon CEO.

PANTHERx® Rare Partnering with X4 Pharmaceuticals Inc. for the Distribution of XOLREMDI™ (mavorixafor), the First FDA-Approved Therapy Indicated for Use in Patients with WHIM Syndrome

Retrieved on: 
Monday, April 29, 2024
FDA, Bone marrow, Myelokathexis, CXCR4, WHIM syndrome, Food, WHIM, Pharmacy, Wart, CXCL12, Patient, Hypogammaglobulinemia, Primary immunodeficiency, Infection, Pharmaceutical industry

WHIM syndrome is a rare, combined primary immunodeficiency and chronic neutropenic disorder caused by reduced mobilization of white blood cells into the peripheral circulation due to CXCR4/CXCL12 pathway dysfunction.

Key Points: 
  • WHIM syndrome is a rare, combined primary immunodeficiency and chronic neutropenic disorder caused by reduced mobilization of white blood cells into the peripheral circulation due to CXCR4/CXCL12 pathway dysfunction.
  • By targeting the underlying cause of WHIM syndrome, treatment with XOLREMDI results in the increased mobilization of immune cells from the bone marrow.
  • "We are very pleased to be working with X4 Pharmaceuticals for the distribution of XOLREMDI in the U.S.," said Rob Snyder, CEO of PANTHERx Rare Pharmacy.
  • "Up until now, there has been no treatment specifically indicated in people with WHIM syndrome.

National Organization for Rare Disorders (NORD) Announces 2024 Rare Impact Award Honorees, Emmy Award-Winning Journalist, Peter Alexander to Host

Retrieved on: 
Monday, April 22, 2024
Education, FDA, Haemophilia, Risk, Genetics, Policy, Legislation, Louisiana House of Representatives, Diagnosis, Community, Enzyme replacement therapy, DSM-IV codes, Universal Pictures, Usher syndrome, NBC News, Primary immunodeficiency, Metabolic disorder, Therapy, Abbey, Coagulopathy, IgA nephropathy, Hospital, Rare disease, BioMarin Pharmaceutical, Proteinuria, Alpha-mannosidosis, Regeneron Pharmaceuticals, House, Immunoglobulin A, Medicine, Biogen, Universal Studios Hollywood, HFSC, PDT, APDS, Friedreich's ataxia, Disease, Science, Patient, Caregiver, Representative, Activated, Pharmaceutical industry

"Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care."

Key Points: 
  • "Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care."
  • "Having witnessed my sister's journey, I know the challenges rare disease families face are not just physical but also emotional, mental, and financial.
  • In addition to the individual award recipients, the Rare Impact Awards are also honoring companies that have developed treatments changing the lives of those with rare diseases.
  • Regeneron Pharmaceuticals for Veopoz™: The first and only treatment indicated specifically for CHAPLE disease, a rare hereditary immune disease.

EQS-News: Biotest AG increased sales by 32% in the financial year 2023

Retrieved on: 
Wednesday, April 10, 2024
Primary immunodeficiency, PLI, Tax, EBT, Growth, Biologics license application, Dreieich, Partnership, Patient, Research, Grifols, Management, Technology transfer, Disclosure, PID, Annual report, Next Level, S.A, Birth, FDA, BLA, Fibrinogen, Factor

In the financial year 2023, the Biotest Group generated revenue of € 684.6 million compared with € 516.1 million in the previous year.

Key Points: 
  • In the financial year 2023, the Biotest Group generated revenue of € 684.6 million compared with € 516.1 million in the previous year.
  • The consolidated EBIT result in the 2023 financial year of € 143.5 million improved considerably compared with € -16.6 million in the previous year.
  • In September 2023, Biotest reached an important milestone in the marketing authorisation process for Yimmugo® in the USA.
  • The 2023 Annual Report and the 2023 Sustainability Report are available on the company's website.

KORU Medical Systems to Present Data Demonstrating 97% Adherence on Its Freedom Infusion System for Large Volume Subcutaneous Administration at NHIA 2024 Conference

Retrieved on: 
Monday, March 18, 2024
Medical Devices, Health, Pharmaceutical, Clinical Trials, Medical Supplies, Immunodeficiency, Conference, KRMD, PIDD, Therapy, Patient, Impact, Literature, Primary immunodeficiency, Medical device

The study, authored by KORU Medical, analyzed data from a large national specialty pharmacy, capturing drug receipts over 4.5 years for 3,787 US PIDD patients using KORU Medical FREEDOM60® and FreedomEdge® infusion systems for self-administered SCIg therapy.

Key Points: 
  • The study, authored by KORU Medical, analyzed data from a large national specialty pharmacy, capturing drug receipts over 4.5 years for 3,787 US PIDD patients using KORU Medical FREEDOM60® and FreedomEdge® infusion systems for self-administered SCIg therapy.
  • We believe it provides valuable insights into the effectiveness of KORU Medical’s Freedom Infusion System in promoting treatment compliance in large volume subcutaneous delivery.
  • “These findings highlight the positive impact of KORU Medical’s Freedom Infusion System on subcutaneous immunoglobulin therapy for patients with primary immunodeficiency disease," said Brent Rutland, Vice President, Medical Affairs at KORU Medical.
  • These results, with the KORU Freedom Infusion System, also demonstrate the company’s potential to support a broader range of developmental subcutaneous drug therapies.”

Half year reported NPATA US$2 billion¹,² Up 13% at constant currency³

Retrieved on: 
Tuesday, February 13, 2024
Acquisition, Warfarin, CSL Behring, Depreciation, Research, Ministry, Messenger, CIDP, Marketing, CSL, Growth, Plasmapheresis, Primary immunodeficiency, Von Willebrand disease, Antibody, S&M, Immunodeficiency, ASX, Income tax, Haemophilia, HAE, Ministry of Health, CSL Vifor, Hereditary angioedema, Plasma, COVID, Patient, Webcast, Phase, Diagnosis, G&A, CC3, Pressure, CSL Limited, Vaccine

MELBOURNE, Australia, Feb. 13, 2024 /PRNewswire/ -- CSL Limited (ASX:CSL; USOTC:CSLLY) today announces a reported net profit after tax of $1.90 billion1 for the 6 months ended 31 December 2023, up 20% on a constant currency basis3. Underlying profit (NPATA) was $2.02 billion1,2, up 13% on a constant currency basis to $2.06 billion1,2,3.

Key Points: 
  • Underlying profit (NPATA) was $2.02 billion1,2, up 13% on a constant currency basis to $2.06 billion1,2,3.
  • Immunoglobulin (Ig) product sales of $2,757 million, increased 23%3 with strong growth recorded across all geographies driven by global plasma supply and patient demand.
  • HIZENTRA® (Immune Globulin Subcutaneous (Human), 20% Liquid) sales were up 18%3 driven by  patient diagnosis rates.
  • However, due to the seasonality of this business we anticipate it to post a loss in the second half of the fiscal year.

Half year reported NPATA US$2 billion¹,² Up 13% at constant currency³

Retrieved on: 
Tuesday, February 13, 2024
Acquisition, Warfarin, CSL Behring, Depreciation, Research, Ministry, Messenger, CIDP, Marketing, CSL, Growth, Plasmapheresis, Primary immunodeficiency, Von Willebrand disease, Antibody, S&M, Immunodeficiency, ASX, Income tax, Haemophilia, HAE, Ministry of Health, CSL Vifor, Hereditary angioedema, Plasma, COVID, Patient, Webcast, Phase, Diagnosis, G&A, CC3, Pressure, CSL Limited, Vaccine

MELBOURNE, Australia, Feb. 13, 2024 /PRNewswire/ -- CSL Limited (ASX:CSL; USOTC:CSLLY) today announces a reported net profit after tax of $1.90 billion1 for the 6 months ended 31 December 2023, up 20% on a constant currency basis3. Underlying profit (NPATA) was $2.02 billion1,2, up 13% on a constant currency basis to $2.06 billion1,2,3.

Key Points: 
  • Underlying profit (NPATA) was $2.02 billion1,2, up 13% on a constant currency basis to $2.06 billion1,2,3.
  • Immunoglobulin (Ig) product sales of $2,757 million, increased 23%3 with strong growth recorded across all geographies driven by global plasma supply and patient demand.
  • HIZENTRA® (Immune Globulin Subcutaneous (Human), 20% Liquid) sales were up 18%3 driven by  patient diagnosis rates.
  • However, due to the seasonality of this business we anticipate it to post a loss in the second half of the fiscal year.

Takeda’s HYQVIA® Approved by European Commission as Maintenance Therapy in Patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Retrieved on: 
Monday, January 29, 2024
Neurology, Biotechnology, Pharmaceutical, Oncology, General Health, Health, FDA, Clinical Trials, Medication package insert, Patient, CHMP, Immunodeficiency, Nausea, Itch, PID, Erythema, Civil service commission, European Commission, Edema, Research and development, Aes, Recombinant, Skin, Food, Disease, Safety, Primary immunodeficiency, Committee, Absorption, IVIG, Peripheral nervous system, Headache, Diagnosis, Pharmaceutical industry

Takeda (TSE:4502/NYSE:TAK) today announced that the European Commission (EC) approved HYQVIA® [Immune Globulin Infusion 10% (Human) with Recombinant Human Hyaluronidase] as maintenance therapy in patients of all ages with chronic inflammatory demyelinating polyneuropathy (CIDP) after stabilization with intravenous immunoglobulin therapy (IVIG).

Key Points: 
  • Takeda (TSE:4502/NYSE:TAK) today announced that the European Commission (EC) approved HYQVIA® [Immune Globulin Infusion 10% (Human) with Recombinant Human Hyaluronidase] as maintenance therapy in patients of all ages with chronic inflammatory demyelinating polyneuropathy (CIDP) after stabilization with intravenous immunoglobulin therapy (IVIG).
  • The majority of AEs were mild or moderate, local, did not require suspension of infusions, and resolved without sequelae.
  • The most common (reported in >5% of patients) causally related AEs included headache and nausea, as well as local AEs including infusion site pain, erythema, pruritis, and edema.
  • HYQVIA first received approval from the EC for the treatment of primary immunodeficiency (PID) in 2013 as well as secondary immunodeficiency (SID) in 2020.8

U.S. FDA Approves Takeda’s HYQVIA® as Maintenance Therapy in Adults with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Retrieved on: 
Tuesday, January 16, 2024
Biotechnology, FDA, Health, Pharmaceutical, Clinical Trials, CIDP, Patient, CHMP, Itch, Nausea, SCIG, Fatigue, Erythema, European Commission, European, Abdominal pain, Lipase, EMA, Recombinant, Skin, Back pain, Food, Safety, Caregiver, Primary immunodeficiency, Pain, Marketing, Committee, Headache, Absorption, IVIG, Diagnosis, Pharmaceutical industry

Takeda ( TSE:4502/NYSE:TAK ) today announced that the U.S. Food and Drug Administration (FDA) has approved HYQVIA® [Immune Globulin Infusion 10% (Human) with Recombinant Human Hyaluronidase] for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) as maintenance therapy to prevent the relapse of neuromuscular disability and impairment in adults.

Key Points: 
  • Takeda ( TSE:4502/NYSE:TAK ) today announced that the U.S. Food and Drug Administration (FDA) has approved HYQVIA® [Immune Globulin Infusion 10% (Human) with Recombinant Human Hyaluronidase] for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) as maintenance therapy to prevent the relapse of neuromuscular disability and impairment in adults.
  • Because it is delivered subcutaneously, HYQVIA can be administered by a healthcare professional in a medical office, infusion center or at a patient’s home.
  • “We’re excited that this therapy could offer some adults with CIDP an alternative subcutaneous option that may address some of these challenges and help personalize treatment.”
    HYQVIA is now available as a maintenance therapy for adult patients with CIDP in the U.S.
  • The European Commission (EC) will consider the CHMP positive opinion when determining the potential marketing authorization for HYQVIA for CIDP throughout the European Union.6

Halozyme Announces Takeda Receives FDA Approval for HYQVIA® Co-formulated with ENHANZE® as Maintenance Therapy in Adults with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Retrieved on: 
Tuesday, January 16, 2024
CIDP, Patient, Therapy, Chronic inflammatory demyelinating polyneuropathy, SCIG, SAN, Food and Drug Administration, Food, Takeda, Primary immunodeficiency, FDA, Absorption

SAN DIEGO, Jan. 16, 2024 /PRNewswire/ -- Halozyme Therapeutics, Inc. (NASDAQ: HALO) ("Halozyme") today announced that Takeda received U.S. Food and Drug Administration (FDA) approval for HYQVIA® [Immune Globulin Infusion 10% (Human)] co-formulated with Halozyme's ENHANZE® drug delivery technology for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) as maintenance therapy to prevent the relapse of neuromuscular disability and impairment in adults.

Key Points: 
  • SAN DIEGO, Jan. 16, 2024 /PRNewswire/ -- Halozyme Therapeutics, Inc. (NASDAQ: HALO) ("Halozyme") today announced that Takeda received U.S. Food and Drug Administration (FDA) approval for HYQVIA® [Immune Globulin Infusion 10% (Human)] co-formulated with Halozyme's ENHANZE® drug delivery technology for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) as maintenance therapy to prevent the relapse of neuromuscular disability and impairment in adults.
  • HYQVIA® was first granted FDA approval in 2014 for the treatment of primary immunodeficiency (PI) in adults, which has since been expanded to include children 2-16 years old.1
    HYQVIA® is the only FDA-approved combination of immunoglobulin (IG) and hyaluronidase, which makes it a facilitated subcutaneous immunoglobulin (SCIG) infusion.
  • For adults with CIDP, HYQVIA® can be infused up to once monthly (every two, three or four weeks) due to ENHANZE®, which facilitates the dispersion and absorption of large IG volumes in the subcutaneous space.
  • Because it is delivered subcutaneously, HYQVIA® can be administered by a healthcare professional in a medical office, infusion center or at a patient's home.