X-linked recessive inheritance

Fortress Biotech and Cyprium Therapeutics Announce $4.1 Million Grant from NINDS to Further Development of AAV-ATP7A Gene Therapy for Menkes Disease

Retrieved on: 
Monday, March 4, 2024
Bangladesh Technical Education Board, Natural history, Gene, Nationwide, NIH, ATPase, FDA, Fortress Biotech, Food, Cerebrospinal fluid, Hospital, Principal investigator, Gene therapy, Human, Research institute, Therapy, Menkes disease, Patient, X-linked recessive inheritance, Cyprium, CSF, Clinical trial, Pediatrics, Fortification, Male, Genetics, Mutation, Spinal muscular atrophy, Copper, NDA, Orphan, AAV, DSM-IV codes, Research, Mouse, Pharmaceutical industry

MIAMI, March 04, 2024 (GLOBE NEWSWIRE) -- Cyprium Therapeutics, Inc. (“Cyprium”), a majority-owned subsidiary of Fortress Biotech, Inc. (Nasdaq: FBIO) (“Fortress”), today announced that the National Institute of Neurological Disorders and Stroke (“NINDS”) of the National Institutes of Health (“NIH”) has awarded a three-year grant totaling approximately $4.1 million to the Research Institute at Nationwide Children’s Hospital and Principal Investigator, Stephen G. Kaler, M.D., M.P.H., to fund completion of preclinical studies, manufacturing and preparation of an Investigational New Drug Application for a first-in-human clinical trial to advance adeno-associated virus (“AAV”)-ATP7A gene therapy, also known as AAV-ATP7A, for the treatment of Menkes disease.

Key Points: 
  • Often lethal if untreated, Menkes disease is an X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase.
  • “By combining CUTX-101 with working copies of ATP7A delivered by AAV, we hope to enhance clinical outcomes in Menkes disease, a fatal rare pediatric disease.
  • Preclinical studies have demonstrated a synergistic effect of AAV-ATP7A and CUTX-101 in a reliable mouse model of Menkes disease.
  • In early studies, cerebrospinal fluid (“CSF”)-directed AAV gene therapy rescued 22-53% of mice with a mutation in the human Menkes disease homolog (mottled-brindled) when combined with CSF or subcutaneous copper.

Timber Pharmaceuticals to Highlight Phase 2b CONTROL Study Results in Multiple Presentations at 31st EADV Congress

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Monday, August 29, 2022
Ichthyosis, Security (finance), X-linked recessive inheritance, Safety, Securities Exchange Act of 1934, NYSE, Securities Act of 1933, Incidence, Lumber, CI, CONTROL, CMC, Isotretinoin, Quality of life, Chemistry, U.S. Securities and Exchange Commission, GLOBE, Journal of the European Academy of Dermatology and Venereology, Company, FDA, 2021 Essex County Council election, Genta (company), Congress, Private Securities Litigation Reform Act, Intellectual property, Industry, Annual report, Patient, Nature, Pharmaceutical industry, Dermatology

BASKING RIDGE, NJ, Aug. 29, 2022 (GLOBE NEWSWIRE) -- via NewMediaWire – Timber Pharmaceuticals, Inc. ("Timber" or the “Company”) (NYSE American: TMBR), a clinical-stage biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases, today announced that seven abstracts detailing positive clinical data from the completed Phase 2b CONTROL study of TMB-001 were accepted for e-poster presentation at the 31st European Academy of Dermatology and Venerology (EADV) Congress, which will be held in Milan, Italy and virtually from September 7-10, 2022. TMB-001 is a topical isotretinoin formulation in development based on the Company’s patented IPEG™ delivery system for the treatment of moderate to severe forms of congenital ichthyosis (CI), a group of rare genetic keratinization disorders that lead to dry, thickened, and scaling skin. In May 2022, the FDA designated TMB-001 as a breakthrough therapy for the treatment of CI.

Key Points: 
  • In May 2022, the FDA designated TMB-001 as a breakthrough therapy for the treatment of CI.
  • The Company's investigational therapies have proven mechanisms-of-action backed by decades of clinical experience and well-established CMC (chemistry, manufacturing, and control) and safety profiles.
  • The Company is initially focused on developing non-systemic treatments for rare dermatologic diseases including congenital ichthyosis (CI) and other sclerotic skin diseases.
  • The Company undertakes no obligation to publicly update any forward-looking statement, whether as a result of new information, future events or otherwise.

Timber Pharmaceuticals Announces Publication of Results from Phase 2b CONTROL Study of FDA-Designated Breakthrough Therapy TMB-001 in the Journal of the American Academy of Dermatology

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Friday, August 26, 2022
Patient, Security (finance), XLRI, X-linked recessive inheritance, Safety, IGA, NYSE, Securities Exchange Act of 1934, Pharmacokinetics, Securities Act of 1933, PP, American Academy, Professor, ITT, Lumber, Mark (given name), Drug Quality and Security Act, CI, CONTROL, CMC, Isotretinoin, Chemistry, U.S. Securities and Exchange Commission, Journal, GLOBE, Journal of the American Academy of Dermatology, Moisturizer, Company, Population, Stanford University, ASCEND, Genta (company), Clinical trial, Private Securities Litigation Reform Act, Ichthyosis, Intellectual property, Industry, Annual report, Nature, Pharmaceutical industry, Diesel fuel, Dermatology

BASKING RIDGE, NJ, Aug. 26, 2022 (GLOBE NEWSWIRE) -- via NewMediaWire – Timber Pharmaceuticals, Inc. ("Timber" or the “Company”) (NYSE American: TMBR), a clinical-stage biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases, announced that results from the previously completed Phase 2b CONTROL study that evaluated TMB-001, a topical isotretinoin formulated using the Company’s patented IPEG™ delivery system, in moderate to severe congenital ichthyosis (CI) are published in the Journal of the American Academy of Dermatology.

Key Points: 
  • We want to thank all prior and current investigators and patients who have helped us get to this point.
  • These results support ongoing TMB-001 efficacy and safety investigation as a promising alternative to oral retinoids for patients with CI.
  • Timber Pharmaceuticals, Inc. is a clinical-stage biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases.
  • The Company undertakes no obligation to publicly update any forward-looking statement, whether as a result of new information, future events or otherwise.

Timber Pharmaceuticals Announces Late-Breaking Presentation at the American Academy of Dermatology 2022 Annual Meeting

Retrieved on: 
Friday, March 25, 2022
Company, Genta (company), Mark (given name), IGA, Isotretinoin, Yale School of Medicine, AAD, NYSE, Patient, CI, Ichthyosis, Research, Doctor of Philosophy, CMC, EDT, Dermatology, Food, U.S. Securities and Exchange Commission, Private Securities Litigation Reform Act, American Academy of Dermatology, MD, Industry, CONTROL, Food and Drug Administration, Securities Exchange Act of 1934, Annual general meeting, Securities Act of 1933, TSC, Intellectual property, GLOBE, American Academy, Chemistry, XLRI, X-linked recessive inheritance, Fas, Drug Quality and Security Act, AES, Nature, FDA, Annual report, Security (finance), Pharmaceutical industry, Risk management, Health insurance

BASKING RIDGE, NJ, March 25, 2022 (GLOBE NEWSWIRE) -- via NewMediaWire -- Timber Pharmaceuticals, Inc. ("Timber" or the “Company”) (NYSE American: TMBR), a biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases, today announced a late-breaking presentation of a sub-analysis of the Phase 2b CONTROL study that evaluated TMB-001, a topical isotretinoin formulated using the company’s patented IPEG™ delivery system, at the American Academy of Dermatology (AAD) 2022 Annual Meeting being held in Boston, MA, from March 25-29.  

Key Points: 
  • We know that the treatment of CI is a clear unmet need in dermatology as there are currently limited options available, said Dr. Bunick.
  • CI is a group of rare genetic keratinization disorders that leads to dry, thickened, and scaling skin.
  • Timber Pharmaceuticals, Inc. is a biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases.
  • The Company undertakes no obligation to publicly update any forward-looking statement, whether as a result of new information, future events or otherwise.

Duchenne Muscular Dystrophy 2022: Epidemiology, Etiology, Pathophysiology, Symptoms, Diagnosis and Treatment Guidelines - ResearchAndMarkets.com

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Friday, February 18, 2022
Biotechnology, Pharmaceutical, Health, DMD, Muscle, Relaxation, Patient, Muscle contraction, Epidemiology, Mortality, Cardiomyopathy, Compound annual growth rate, HIV disease progression rates, Phenotype, Review, Female, Therapy, Dystrophinopathy, X-linked recessive inheritance, Duchenne muscular dystrophy, Protein, Genetic disorder, Survival, Dystrophin-associated protein complex, Steroid, D, Disease, DPC, Industry, Weakness, Diagnosis, Dystrophin, Exercise-associated muscle cramps, Life, CAGR, Dentistry, Pharmaceutical industry

The "Duchenne Muscular Dystrophy - Opportunity Assessment and Forecast to 2030" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Duchenne Muscular Dystrophy - Opportunity Assessment and Forecast to 2030" report has been added to ResearchAndMarkets.com's offering.
  • Duchenne muscular dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin.
  • Greatest unmet needs in the DMD space pertain to disease progression rate, access to treatment for specific patient segments, and cost of therapies.
  • Overview of DMD including epidemiology, etiology, pathophysiology, symptoms, diagnosis, and treatment guidelines.

Timber Pharmaceuticals Reports Positive Top-line Results from Phase 2b CONTROL Study Evaluating TMB-001 in Moderate to Severe Congenital Ichthyosis

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Thursday, October 7, 2021
People, Company, Intellectual property, Isotretinoin, Incidence, X-linked recessive inheritance, Genta (company), TSC, SAE, Perspiration, Motion, CONTROL, Standard of care, IGA, GLOBE, Safety, Dry, Industry, AES, Population, Annual report, Securities Exchange Act of 1934, FDA, Lamellar ichthyosis, Moisturizer, CMC, U.S. Securities and Exchange Commission, Nature, Private Securities Litigation Reform Act, Securities Act of 1933, CI, Fas, ITT, Security (finance), Drug Quality and Security Act, Ichthyosis, NYSE, Patient, Conditional sentence, Chemistry, PP, Pharmaceutical industry, Phosphorus

Basking Ridge, NJ, Oct. 07, 2021 (GLOBE NEWSWIRE) -- via NewMediaWire -- Timber Pharmaceuticals, Inc. ("Timber" or the “Company”) (NYSE American: TMBR), a biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases, today announced positive top-line data from its Phase 2b CONTROL study evaluating TMB-001, an investigational topical isotretinoin formulated using Timber’s patented IPEG™ delivery system, in patients with moderate to severe congenital ichthyosis (CI). 

Key Points: 
  • People living with CI may have limited range of motion, chronic itching, an inability to sweat, high risk of secondary infections.
  • The study was not designed or powered for statistical analysis of the endpoints and was intended to provide information for future development.
  • We are extremely pleased with the encouraging data generated by the Phase 2b CONTROL study of TMB-001.
  • Timber Pharmaceuticals, Inc. is a biopharmaceutical company focused on the development and commercialization of treatments for rare and orphan dermatologic diseases.

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 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.

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

Retrieved on: 
Thursday, January 16, 2020
Rare diseases, Inborn errors of metal metabolism, Branches of biology, Medicine, Organ systems, Menkes, ATP7A, X-linked recessive inheritance, Occipital horn syndrome, Hepatology

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.