Occipital horn syndrome

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

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.

Cyprium Therapeutics, a Fortress Biotech Partner Company, and Sentynl Therapeutics, a Wholly-owned Subsidiary of the Zydus Group, Sign Development and Asset Purchase Agreement for Cyprium Therapeutics’ Copper Histidinate Product Candidate for Treatment

Retrieved on: 
Wednesday, February 24, 2021

Continued development of CUTX-101 will be overseen by a Joint Steering Committee consisting of representatives from Cyprium and Sentynl.

Key Points: 
  • Continued development of CUTX-101 will be overseen by a Joint Steering Committee consisting of representatives from Cyprium and Sentynl.
  • We are very pleased to partner with Sentynl to potentially expedite the development and commercialization of CUTX-101.
  • We look forward to working with Sentynl to begin the rolling submission of the NDA to the FDA this year.
  • 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 Announces Breakthrough Therapy Designation for CUTX-101, Copper Histidinate, for the Treatment of Menkes Disease

Retrieved on: 
Tuesday, December 15, 2020

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

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

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

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

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.

Fortress Biotech Announces Rare Pediatric Disease Designation for CUTX-101 for the Treatment of Menkes Disease

Retrieved on: 
Thursday, January 16, 2020

Menkes disease is a rare X-linked recessive pediatric disease caused by genetic mutations of the copper transporter, ATP7A.

Key Points: 
  • Menkes disease is a rare X-linked recessive pediatric disease caused by genetic mutations of the copper transporter, ATP7A.
  • This program is intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.
  • The FDAs Rare Pediatric Disease Designation of CUTX-101 for the treatment of Menkes disease, after granting Orphan Drug and Fast Track Designations to CUTX-101 previously, highlights the significant unmet medical needs for patients with this devastating and life-threatening disease.
  • Menkes disease is a rare X-linked recessive pediatric disease caused by gene mutations of copper transporter ATP7A, which affects approximately one in 100,000 newborns per year.