Know About Progeria Disease
Know About Progeria Disease
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and rapidly fatal genetic condition of accelerated aging in children.
Causes of Progeria:
Progeria is caused by a point mutation in the LMNA gene, encoding the lamin A protein, yielding the farnesylated aberrant protein, progerin. Lamin A protein is part of the structural scaffolding that holds the nucleus together. Researchers now believe that progerin may make the nucleus unstable, and that cellular instability may lead to the process of premature aging in Progeria. Children with Progeria die of the same heart disease that affects millions of normally aging adults (arteriosclerosis), but at an average age of 14.5 years. Disease manifestations include severe failure to thrive, scleroderma-like skin, global lipodystrophy, alopecia, joint contractures, skeletal dysplasia, global accelerated atherosclerosis with cardiovascular decline, and debilitating strokes. It is estimated that 400 children worldwide have Progeria.
Causes of Progeria:
Progeria is caused by a point mutation in the LMNA gene, encoding the lamin A protein, yielding the farnesylated aberrant protein, progerin. Lamin A protein is part of the structural scaffolding that holds the nucleus together. Researchers now believe that progerin may make the nucleus unstable, and that cellular instability may lead to the process of premature aging in Progeria. Children with Progeria die of the same heart disease that affects millions of normally aging adults (arteriosclerosis), but at an average age of 14.5 years. Disease manifestations include severe failure to thrive, scleroderma-like skin, global lipodystrophy, alopecia, joint contractures, skeletal dysplasia, global accelerated atherosclerosis with cardiovascular decline, and debilitating strokes. It is estimated that 400 children worldwide have Progeria.
Lonafarnib in Progeria and Progeroid Laminopathies:
Progeroid laminopathies are genetic conditions of accelerated aging caused by a constellation of mutations in the lamin A and/or Zmpste24 genes yielding farnesylated proteins that are distinct from progerin. While non-progerin producing, these genetic mutations result in disease manifestations with phenotypes that have overlap with, but are distinct, from Progeria. Collectively, worldwide prevalence of progeroid laminopathies is likely greater than Progeria.
Lonafarnib is a well-characterized, late-stage, orally active inhibitor of farnesyltransferase, an enzyme involved in modification of proteins through a process called prenylation. Progerin is a farnesylated protein that researchers believe cannot be cleaved, resulting in tight association with the nuclear envelope, which is believed to lead to changes in nuclear envelope morphology and subsequent cellular damage. Lonafarnib blocks the farnesylation of progerin and has been dosed in over 80 children with Progeria at Boston's Children Hospital in Phase 1/2 and Phase 2 studies. Lonafarnib has been granted Orphan Drug designation for Progeria by the FDA and EMA. Lonafarnib is not approved for any indication, and is licensed by Eiger from Merck Sharp & Dohme Corp.
Progeroid laminopathies are genetic conditions of accelerated aging caused by a constellation of mutations in the lamin A and/or Zmpste24 genes yielding farnesylated proteins that are distinct from progerin. While non-progerin producing, these genetic mutations result in disease manifestations with phenotypes that have overlap with, but are distinct, from Progeria. Collectively, worldwide prevalence of progeroid laminopathies is likely greater than Progeria.
Lonafarnib is a well-characterized, late-stage, orally active inhibitor of farnesyltransferase, an enzyme involved in modification of proteins through a process called prenylation. Progerin is a farnesylated protein that researchers believe cannot be cleaved, resulting in tight association with the nuclear envelope, which is believed to lead to changes in nuclear envelope morphology and subsequent cellular damage. Lonafarnib blocks the farnesylation of progerin and has been dosed in over 80 children with Progeria at Boston's Children Hospital in Phase 1/2 and Phase 2 studies. Lonafarnib has been granted Orphan Drug designation for Progeria by the FDA and EMA. Lonafarnib is not approved for any indication, and is licensed by Eiger from Merck Sharp & Dohme Corp.
The Progeria Research Foundation:
The Progeria Research Foundation was established in 1999 by the family of Sam Berns, a child with Progeria. Within four years of its founding, the PRF Genetics Consortium, led by Francis Collins, MD, PhD, discovered the Progeria gene. PRF has also been the driving force behind studies to evaluate lonafarnib as a potential treatment for Progeria and supports scientists who conduct Progeria research. Today, PRF is the only non-profit organization in the world solely dedicated to finding treatments and the cure for Progeria and its age-related conditions, including heart disease.
The Progeria Research Foundation was established in 1999 by the family of Sam Berns, a child with Progeria. Within four years of its founding, the PRF Genetics Consortium, led by Francis Collins, MD, PhD, discovered the Progeria gene. PRF has also been the driving force behind studies to evaluate lonafarnib as a potential treatment for Progeria and supports scientists who conduct Progeria research. Today, PRF is the only non-profit organization in the world solely dedicated to finding treatments and the cure for Progeria and its age-related conditions, including heart disease.
About Eiger in Progeria:
Eiger is a late-stage biopharmaceutical company focused on the accelerated development and commercialization of a pipeline of targeted therapies for rare and ultra-rare diseases. The company's lead program is in Phase 3, developing lonafarnib, a first-in-class prenylation inhibitor for the treatment of Hepatitis Delta Virus (HDV) infection. The company is also preparing an NDA with plans to file in 2019 for lonafarnib in the treatment of Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) and Progeroid Laminopathies.
In future, what can do for Progeria :
Eiger is a late-stage biopharmaceutical company focused on the accelerated development and commercialization of a pipeline of targeted therapies for rare and ultra-rare diseases. The company's lead program is in Phase 3, developing lonafarnib, a first-in-class prenylation inhibitor for the treatment of Hepatitis Delta Virus (HDV) infection. The company is also preparing an NDA with plans to file in 2019 for lonafarnib in the treatment of Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) and Progeroid Laminopathies.
In future, what can do for Progeria :
whether we can timely file in 2019 our planned NDA for Progeria and Progeroid Laminopathies; whether our filing package will be sufficient to support regulatory approval in either or both of Progeria and Progeroid Laminopathies; our ability to complete and achieve successful clinical study results with any or all of our product candidates in order make timely regulatory filings and obtain and maintain regulatory approvals based on our expected timelines, including our D-LIVR Phase 3 study of lonafarnib for the treatment of HDV; our ability to move lonafarnib into potentially pivotal clinical studies and file an NDA for progeria in a successful and timely manner; our intellectual property position; and the potential safety, efficacy, reimbursement, convenience clinical and pharmaco-economic benefits of our product candidates as well as the commercial opportunities, including potential market sizes and segments; our ability to finance the continued advancement of our development pipeline products, including our results of operations, cash available, financial condition, liquidity, prospects, growth and strategies; and the potential for success of any of our product candidates.
