ATP7A

Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Committed to the Development of Tests for Early Diagnosis of Patients with Menkes Disease

Retrieved on: 
Tuesday, November 8, 2022
Diagnosis, Genetic distance, Infant, Institute, Patient, FDA, Compliance, SAN, Rady Children's Hospital, Mortality, Projection screen, Molecular genetics, Texas Institute for Genomic Medicine, Awareness, ATP7A, Metabolism, Menkes disease, Founder, Hypotonia, Genetic testing, Degenerative disease, Whole genome sequencing, Seizure, Therapy, Hair, Male, Failure, Pharmaceutical industry, Occipital horn syndrome, Menkes

Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Supports Development of Tests For Early Diagnosis

Key Points: 
  • Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Supports Development of Tests For Early Diagnosis
    Today, most patients with Menkes disease are misdiagnosed or diagnosed late after irreversible neurodevelopmental damage has occurred.
  • Over the last year, Sentynl has been advocating for the inclusion of the ATP7A gene in commercially-available genetic panels.
  • We are thrilled to partner with Sentynl Therapeutics in promoting awareness of Menkes disease."
  • Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of the copper transporter ATP7A.

Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Committed to the Development of Assays for Early Diagnosis of Patients with Menkes Disease

Retrieved on: 
Monday, November 15, 2021
Seizure, Mortality, Compliance, Menkes disease, Therapy, Metabolism, Founder, Caregiver, Disease, ATP7A, Hypotonia, Failure, Degenerative disease, Foundation, Awareness, Genetic testing, Collection, Diagnosis, Male, Lists of diseases, Committed, Molecular genetics, Hair, Patient, Life, FDA, Pharmaceutical industry, Medical device

In support of the patients and families affected by this devastating disease, Sentynl is reinforcing its financial and human resource commitments toward facilitating earlier diagnosis of patients with Menkes disease.

Key Points: 
  • In support of the patients and families affected by this devastating disease, Sentynl is reinforcing its financial and human resource commitments toward facilitating earlier diagnosis of patients with Menkes disease.
  • At the heart of Sentynl's efforts is the establishment of early screening for Menkes disease, including newborn and high-risk screening.
  • Sentynl Therapeutics Recognizes Menkes Disease Awareness Month, Committed to
    Recognizing that most patients with Menkes disease experience delayed or missed diagnoses that may affect patient outcomes, Sentynl is advancing initiatives aimed at providing an earlier diagnosis of the disease.
  • Sentynl's Chief Executive Officer, Matthew Heck, said, "Early diagnosis is critical to Menkes disease patients and their caregivers.

Fortress Biotech and Cyprium Therapeutics Announce Positive Clinical Data for CUTX-101, Copper Histidinate, Presented at 2021 American Academy of Pediatrics National Conference & Exhibition

Retrieved on: 
Thursday, October 14, 2021
Menkes, Death, Fortification, Nasdaq, ATP7A, NDA, Poster, Fortress Biotech, Conference, FDA, Premature, Patient, American Academy, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Food, OS, Exhibition, Therapy, Menkes disease, Pharmaceutical industry

These data will be presented as a virtual poster at the 2021 American Academy of Pediatrics National Conference & Exhibition.

Key Points: 
  • These data will be presented as a virtual poster at the 2021 American Academy of Pediatrics National Conference & Exhibition.
  • These positive data demonstrate the potential of CUTX-101 to be an effective therapy for patients with this devastating disease.
  • The primary efficacy endpoint comparing CuHis-ET to HC-ET and the secondary efficacy endpoint comparing CuHis-LT to HC-LT were both met.
  • Cyprium Therapeutics, Inc. ("Cyprium") is focused on the development of novel therapies for the treatment of Menkes disease and related copper metabolism disorders.

Fortress Biotech and Cyprium Therapeutics Announce Positive Clinical Data for CUTX-101, Copper Histidinate, Presented at 2021 American Academy of Pediatrics National Conference & Exhibition

Retrieved on: 
Friday, October 8, 2021
Therapy, Conference, Poster, NEW, ATP7A, Food, GLOBE, OS, FDA, Fortress Biotech, Menkes disease, Premature, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Exhibition, Death, New Drug Application, American Academy, Patient, Nasdaq, Pharmaceutical industry

NEW YORK and SOLANA BEACH, Calif., Oct. 08, 2021 (GLOBE NEWSWIRE) -- Cyprium Therapeutics, Inc. (“Cyprium”), a Fortress Biotech, Inc. (Nasdaq: FBIO) (“Fortress”) partner company, with support from its licensing partner Sentynl Therapeutics, Inc. (“Sentynl”), a wholly owned subsidiary of Cadila Healthcare Limited (“Zydus”), today announced positive results from an efficacy and safety analysis of data integrated from two completed pivotal studies in patients with Menkes disease treated with CUTX-101, copper histidinate (CuHis). In both pre-specified primary and secondary efficacy analyses, treatment with CUTX-101 demonstrated a significantly greater median overall survival (OS) compared to untreated historical control patients. These data will be presented as a virtual poster at the 2021 American Academy of Pediatrics National Conference & Exhibition. More information on the poster is listed below:

Key Points: 
  • These data will be presented as a virtual poster at the 2021 American Academy of Pediatrics National Conference & Exhibition.
  • These positive data demonstrate the potential of CUTX-101 to be an effective therapy for patients with this devastating disease.
  • The primary efficacy endpoint comparing CuHis-ET to HC-ET and the secondary efficacy endpoint comparing CuHis-LT to HC-LT were both met.
  • Cyprium Therapeutics, Inc. (Cyprium) is focused on the development of novel therapies for the treatment of Menkes disease and related copper metabolism disorders.

Engrail Therapeutics and The Texas A&M University System Enter Licensing Agreement for Elesclomol in Disorders of Mitochondrial Copper Metabolism

Retrieved on: 
Wednesday, September 8, 2021
Biotechnology, Health, Science, Pharmaceutical, Research, Menkes Disease (MD), Engrail Therapeutics, The Texas A&M University System and Texas A&M AgriLife Research, MENKES DISEASE (MD), ENGRAIL THERAPEUTICS, THE TEXAS A&M UNIVERSITY SYSTEM AND TEXAS A&M AGRILIFE RESEARCH

Mitochondrial copper metabolism disorders, such as ultra-orphan Menkes disease, are devastating for patients and families, said Vikram Sudarsan, Ph.D., CEO and President of Engrail Therapeutics.

Key Points: 
  • Mitochondrial copper metabolism disorders, such as ultra-orphan Menkes disease, are devastating for patients and families, said Vikram Sudarsan, Ph.D., CEO and President of Engrail Therapeutics.
  • Engrail will continue to work closely with academic institutions and industry partnerships to expand our pipeline of therapeutics for patients with significant unmet needs in the neurosciences.
  • In addition, further nonclinical work will be completed through a sponsored research agreement with Texas A&M AgriLife Research.
  • The Texas A&M University System is one of the largest systems of higher education in the nation, with a budget of $9.6 billion.

Fortress Biotech Announces Breakthrough Therapy Designation for CUTX-101, Copper Histidinate, for the Treatment of Menkes Disease

Retrieved on: 
Tuesday, December 15, 2020
Health, Clinical medicine, Rare diseases, Inborn errors of metal metabolism, Food and Drug Administration, Menkes, Breakthrough therapy, ATP7A, Fast track, Orphan drug, Occipital horn syndrome, Priority review

The FDA previously granted Orphan Drug, Fast Track, and Rare Pediatric Disease Designations to CUTX-101 for the treatment of Menkes disease.

Key Points: 
  • The FDA previously granted Orphan Drug, Fast Track, and Rare Pediatric Disease Designations to CUTX-101 for the treatment of Menkes disease.
  • We are very pleased that the FDA has granted Breakthrough Therapy Designation to CUTX-101, a devastating pediatric disease with no FDA-approved treatment options currently available.
  • Breakthrough Therapy Designation is intended to expedite the development and review of drugs for serious or life-threatening conditions.
  • Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of copper transporter ATP7A.

Fortress Biotech Announces Positive Topline Clinical Efficacy Results for CUTX-101, Copper Histidinate, for the Treatment of Menkes Disease

Retrieved on: 
Friday, August 28, 2020
Health, Articles, Clinical medicine, Rare diseases, Inborn errors of metal metabolism, Menkes, ATP7A, X-linked recessive inheritance, Orphan drug, Occipital horn syndrome, Copper in health

These positive topline clinical efficacy data highlight the potential of CUTX-101 as an effective therapy for Menkes disease patients.

Key Points: 
  • These positive topline clinical efficacy data highlight the potential of CUTX-101 as an effective therapy for Menkes disease patients.
  • The FDA previously granted Orphan Drug, Fast Track and Rare Pediatric Disease Designations for CUTX-101 for the treatment of Menkes disease.
  • Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of copper transporter ATP7A.
  • CUTX-101 is in clinical development to treat patients with Menkes disease by replenishing Copper Histidinate, restoring copper homeostasis, and maintaining serum copper levels in the normal age appropriate range.

Fortress Biotech Announces Positive Opinion on Orphan Drug Designation Received from the European Medicines Agency for CUTX-101, Copper Histidinate, for the Treatment of Menkes Disease

Retrieved on: 
Friday, July 31, 2020
Health, Articles, Rare diseases, Clinical medicine, Inborn errors of metal metabolism, Pharmaceuticals policy, Menkes, Orphan drug, ATP7A, Occipital horn syndrome

The U.S. Food and Drug Administration (FDA) previously granted Orphan Drug, Fast Track and Rare Pediatric Disease Designations to CUTX-101 for the treatment of Menkes disease.

Key Points: 
  • The U.S. Food and Drug Administration (FDA) previously granted Orphan Drug, Fast Track and Rare Pediatric Disease Designations to CUTX-101 for the treatment of Menkes disease.
  • Orphan Drug Designation in the European Union (EU) is granted by the European Commission based on a positive opinion issued by the EMA Committee for Orphan Medicinal Products.
  • CambPharma Solutions (CY) Limited submitted the Orphan Drug Designation application on behalf of Cyprium, as its agent in the EU.
  • 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 Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease in Molecular Genetics and Metabolism Reports

Retrieved on: 
Wednesday, July 29, 2020
Branches of biology, Inborn errors of metal metabolism, Clinical medicine, Health, Rare diseases, Menkes, ATP7A, Genetics, Syndromes, X-linked recessive inheritance, Sex linkage, Occipital horn syndrome

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

Retrieved on: 
Thursday, June 11, 2020
Branches of biology, Inborn errors of metal metabolism, Menkes, Genetics, ATP7A, Dominance, X-linked recessive inheritance, Sex linkage, Occipital horn syndrome

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.