Materiały źródłowe

• #1 Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib | Pediatric Research

  https://www.nature.com/articles/pr20189

  HutchinsonGilford progeria syndrome (HGPS) is an ultra-rare, fatal, segmental premature aging syndrome caused by the aberrant lamin A protein, progerin. […] This is the first study to employ a multi-analyte array platform in HGPS. Novel potential biomarkers identified in this study should be further validated by correlations with clinical disease status, especially proteins associated with cardiovascular disease and those that normalized with lonafarnib therapy. […] To date, no validated FDA-approved circulatory biomarker exists for HGPS. We have identified a set of plasma proteins in children with HGPS, before and 1 year after initiating treatment with the farnesyltransferase inhibitor lonafarnib. This is an initial survey step in identifying serologic biomarkers that may provide insight into the natural history of disease, and/or be indicative of improvements with treatment.

• #2 Defining the progeria phenome | Aging

  https://www.aging-us.com/article/205537/text

  Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. […] In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them. […] In this study, we analyzed the prevalence of phenotypes observed in progeroid syndromes to define the progeroid phenome. This allowed us to identify the combination of traits which presented with the highest prevalence in progeroid syndromes. The phenotypes with the highest prevalence included short stature, micrognathia, sun sensitivity, alopecia, skin pigmentation changes, microcephaly and cancer.

• #3 Progeria – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

  Children with progeria generally appear healthy at birth. […] The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years. […] Most children with progeria die of complications related to atherosclerosis, including: Problems with blood vessels that supply the heart, resulting in heart attack and congestive heart failure. […] Problems with blood vessels that supply the brain, resulting in stroke.

• #4 Defining the progeria phenome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10911340/

  Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. […] In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them. […] In this study, we have utilized phenome explorations to define the phenotypes associated with progerias and to develop tools to diagnose patients and identify new progeroid syndromes. […] The progeroid syndromes seemed to cluster and network in groups indicating a certain variety within progerias. […] This suggests that the pathogenesis of progeroid syndromes is related to DNA-repair syndromes or that the gestalt of progeroid syndromes is more in line with aging, while autophagy and mitochondrial disease perhaps show aging phenotypes linked with internal organs such as the brain.

• #5 Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS): Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17850-progeria

  Progeria is always fatal. The average age of death is 14.5 years, although some adults with progeria will live into their early 20s. […] Progeria is a fatal condition that causes early death. The average life expectancy of a person with progeria is 14.5 years. However, some children die as young as 6 years old, and some adults with progeria live into their early 20s. […] Treatment with the drug lonafarnib has shown promising results and has extended the life of people with progeria by two-and-a-half years.

• #6 Progeria: Types, Symptoms, Treatment, Prognosis

  https://www.verywellhealth.com/progeria-6835528

  There is no cure for progeria, and those with progeria do have a significantly shorter life expectancy. While there are treatments, nothing stops the progression of the disease. […] For those with HGPS, mortality is usually the result of heart failure. A study of 258 people with the condition found an average age at death is 14.6 years of age. The oldest survivor in that study died before age 28. […] Individuals with Werner syndrome usually live into their 40s and 50s, with their cause of death most often being cancer or atherosclerosis. But there may be an improvement in life span for those with this condition. […] A Japanese survey tracking patients from 2011 to 2020 found the average age of death of people with Werner syndrome was 59 years, and one person in the study survived to age 76. In this group, no deaths were seen from atherosclerosis, while cancer was the leading cause of death. […] For those with HGPS, the prognosis is fairly poor, with an average life span of under 15 years. Those with Werner syndrome have a longer life expectancy into their 40s and 50s but this is still significantly early mortality.

• #7 Progeria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/progeria

  Progeria causes early death. People with the condition most often only live to their teenage years (average lifespan of 14 years). However, some can live into their early 20s. The cause of death is very often related to the heart or a stroke.

• #8 Progeria: Sign, Symptoms & Risk Factors | HGPS Causes & Treatment

  https://www.delveinsight.com/blog/progeria-causes-symptoms-risk-factors-and-treatment-options

  The average life expectancy for a person affected with progeria (HGPS) is around 13.5 years. Some children with HGPS may die at a very young age, while some cases have been reported where the affected person has survived till the age of 20. Interestingly enough, in Japan, a person with HGPS (LMNA mutation) managed to survive for 45-years. Heart failure/Atherosclerosis (cardiovascular disease), Stroke, Myocardial Infarction are some of the major reasons for death. […] Progeria is not curable; however, the treatment option eases or delays some of the signs and symptoms. Specific therapies for individuals with HGPS are symptomatic and supportive. Medication, changes in diet lifestyle, and physical occupational therapy are the most common treatment options. The treatments also depend on the child’s condition and symptoms. […] In the coming years, increased awareness about the disease’s unique histology and the launch of emerging therapies are expected to significantly improve the lives of people affected by this rare disease.

• #9 Progeria (Hutchinson-Gilford Progeria Syndrome HGPS): Symptoms and Causes

  https://www.webmd.com/children/progeria

  The average life expectancy is nearly 15 years old, though with treatment, that average increases to almost 20 years. […] Studies have shown that the lonafarnib extends the lifespan of people with progeria by an average of 4.5 years. […] Progeria is a very rare disease that causes premature aging. With treatment, most people with the disease live an average of about 20 years.

• #10 Progeria – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

  Children with progeria generally appear healthy at birth. […] The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years. […] Most children with progeria die of complications related to atherosclerosis, including: Problems with blood vessels that supply the heart, resulting in heart attack and congestive heart failure. […] Problems with blood vessels that supply the brain, resulting in stroke.

• #11 Progeria – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

  Children with progeria generally appear healthy at birth. […] The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years. […] Most children with progeria die of complications related to atherosclerosis, including: Problems with blood vessels that supply the heart, resulting in heart attack and congestive heart failure. […] Problems with blood vessels that supply the brain, resulting in stroke.

• #12 Progeria: Sign, Symptoms & Risk Factors | HGPS Causes & Treatment

  https://www.delveinsight.com/blog/progeria-causes-symptoms-risk-factors-and-treatment-options

  The average life expectancy for a person affected with progeria (HGPS) is around 13.5 years. Some children with HGPS may die at a very young age, while some cases have been reported where the affected person has survived till the age of 20. Interestingly enough, in Japan, a person with HGPS (LMNA mutation) managed to survive for 45-years. Heart failure/Atherosclerosis (cardiovascular disease), Stroke, Myocardial Infarction are some of the major reasons for death. […] Progeria is not curable; however, the treatment option eases or delays some of the signs and symptoms. Specific therapies for individuals with HGPS are symptomatic and supportive. Medication, changes in diet lifestyle, and physical occupational therapy are the most common treatment options. The treatments also depend on the child’s condition and symptoms. […] In the coming years, increased awareness about the disease’s unique histology and the launch of emerging therapies are expected to significantly improve the lives of people affected by this rare disease.

• #13 Progeria: Sign, Symptoms & Risk Factors | HGPS Causes & Treatment

  https://www.delveinsight.com/blog/progeria-causes-symptoms-risk-factors-and-treatment-options

  The average life expectancy for a person affected with progeria (HGPS) is around 13.5 years. Some children with HGPS may die at a very young age, while some cases have been reported where the affected person has survived till the age of 20. Interestingly enough, in Japan, a person with HGPS (LMNA mutation) managed to survive for 45-years. Heart failure/Atherosclerosis (cardiovascular disease), Stroke, Myocardial Infarction are some of the major reasons for death. […] Progeria is not curable; however, the treatment option eases or delays some of the signs and symptoms. Specific therapies for individuals with HGPS are symptomatic and supportive. Medication, changes in diet lifestyle, and physical occupational therapy are the most common treatment options. The treatments also depend on the child’s condition and symptoms. […] In the coming years, increased awareness about the disease’s unique histology and the launch of emerging therapies are expected to significantly improve the lives of people affected by this rare disease.

• #14 Defining the progeria phenome | Aging

  https://www.aging-us.com/article/205537/text

  Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. […] In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them. […] In this study, we analyzed the prevalence of phenotypes observed in progeroid syndromes to define the progeroid phenome. This allowed us to identify the combination of traits which presented with the highest prevalence in progeroid syndromes. The phenotypes with the highest prevalence included short stature, micrognathia, sun sensitivity, alopecia, skin pigmentation changes, microcephaly and cancer.

• #15 Defining the progeria phenome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10911340/

  Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. […] In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them. […] In this study, we have utilized phenome explorations to define the phenotypes associated with progerias and to develop tools to diagnose patients and identify new progeroid syndromes. […] The progeroid syndromes seemed to cluster and network in groups indicating a certain variety within progerias. […] This suggests that the pathogenesis of progeroid syndromes is related to DNA-repair syndromes or that the gestalt of progeroid syndromes is more in line with aging, while autophagy and mitochondrial disease perhaps show aging phenotypes linked with internal organs such as the brain.

• #16 Defining the progeria phenome | Aging

  https://www.aging-us.com/article/205537/text

  Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. […] In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them. […] In this study, we analyzed the prevalence of phenotypes observed in progeroid syndromes to define the progeroid phenome. This allowed us to identify the combination of traits which presented with the highest prevalence in progeroid syndromes. The phenotypes with the highest prevalence included short stature, micrognathia, sun sensitivity, alopecia, skin pigmentation changes, microcephaly and cancer.

• #17 Defining the progeria phenome | Aging

  https://www.aging-us.com/article/205537/text

  As progeroid syndromes have historically been diagnosed and described based solely on phenotypes, comparing syndromes phenotypes to the progeroid phenome using hierarchical clusterings, networks and mean prevalence is a useful and reliable tool for the potential identification of new progeroid syndromes. […] Additionally, defining the progeria phenome optimizes clinical diagnosis of patients presenting with a variety of phenotypes and has allowed us to develop a support vector machine that can predict a syndromes likelihood of being progeroid solely based on phenotypes.

• #18 Defining the progeria phenome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10911340/

  Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. […] In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them. […] In this study, we have utilized phenome explorations to define the phenotypes associated with progerias and to develop tools to diagnose patients and identify new progeroid syndromes. […] The progeroid syndromes seemed to cluster and network in groups indicating a certain variety within progerias. […] This suggests that the pathogenesis of progeroid syndromes is related to DNA-repair syndromes or that the gestalt of progeroid syndromes is more in line with aging, while autophagy and mitochondrial disease perhaps show aging phenotypes linked with internal organs such as the brain.

• #19 Defining the progeria phenome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10911340/

  As progeroid syndromes have historically been diagnosed and described based solely on phenotypes, comparing syndromes phenotypes to the progeroid phenome using hierarchical clusterings, networks and mean prevalence is a useful and reliable tool for the potential identification of new progeroid syndromes. […] Additionally, defining the progeria phenome optimizes clinical diagnosis of patients presenting with a variety of phenotypes and has allowed us to develop a support vector machine that can predict a syndromes likelihood of being progeroid solely based on phenotypes.

• #20 Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1189-z

  Globally, pathogenic or likely pathogenic variants (ACMG class 5 or 4) were identified in about 1/4 of the cases; among these, 9 pathogenic variants were novel. […] High throughput sequencing using the Laminopathies/ Premature Aging disorders panel allowed molecular diagnosis of rare disorders associated with premature aging features and genetic counseling for families, representing an interesting first-level analysis before whole genome sequencing may be proposed, as a future second step, by the National high throughput sequencing platforms (Medicine France Genomics 2025 Plan), in families without molecular diagnosis. […] While for the global cohort of patients (n=66) the diagnostic yield (i.e. identification of pathogenic or likely pathogenic variants) was of about 1/4 (26%), by further dividing the cohort in two groups, depending on the strength of the clinical suspicion towards a nosologically defined progeroid syndrome vs. an unspecified progeroid disorder (UPS), we observed that the diagnostic yield largely relied on this parameter, with almost 40% resolved cases in the first category of patients.

• #21 Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1189-z

  Globally, pathogenic or likely pathogenic variants (ACMG class 5 or 4) were identified in about 1/4 of the cases; among these, 9 pathogenic variants were novel. […] High throughput sequencing using the Laminopathies/ Premature Aging disorders panel allowed molecular diagnosis of rare disorders associated with premature aging features and genetic counseling for families, representing an interesting first-level analysis before whole genome sequencing may be proposed, as a future second step, by the National high throughput sequencing platforms (Medicine France Genomics 2025 Plan), in families without molecular diagnosis. […] While for the global cohort of patients (n=66) the diagnostic yield (i.e. identification of pathogenic or likely pathogenic variants) was of about 1/4 (26%), by further dividing the cohort in two groups, depending on the strength of the clinical suspicion towards a nosologically defined progeroid syndrome vs. an unspecified progeroid disorder (UPS), we observed that the diagnostic yield largely relied on this parameter, with almost 40% resolved cases in the first category of patients.

• #22 Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1189-z

  The identification of pathogenic variants allowed us to offer genetic counselling and propose prenatal testing: four prenatal tests were performed in the three families with mutations in GORAB, RECQL4 and TFAP2A. […] Globally, the NGS molecular exploration of 66 patients using a panel of 82 genes associated with premature aging syndromes allowed us to confirm or establish a final diagnosis in 26% (about 1/4th) of the cases, while segregation analysis of first-degree relatives would help to reclassify the VUS identified in about 15% of the cohort.

• #23 Progeria: Types, Symptoms, Treatment, Prognosis

  https://www.verywellhealth.com/progeria-6835528

  There is no cure for progeria, and those with progeria do have a significantly shorter life expectancy. While there are treatments, nothing stops the progression of the disease. […] For those with HGPS, mortality is usually the result of heart failure. A study of 258 people with the condition found an average age at death is 14.6 years of age. The oldest survivor in that study died before age 28. […] Individuals with Werner syndrome usually live into their 40s and 50s, with their cause of death most often being cancer or atherosclerosis. But there may be an improvement in life span for those with this condition. […] A Japanese survey tracking patients from 2011 to 2020 found the average age of death of people with Werner syndrome was 59 years, and one person in the study survived to age 76. In this group, no deaths were seen from atherosclerosis, while cancer was the leading cause of death. […] For those with HGPS, the prognosis is fairly poor, with an average life span of under 15 years. Those with Werner syndrome have a longer life expectancy into their 40s and 50s but this is still significantly early mortality.

• #24 Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS): Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17850-progeria

  Progeria is always fatal. The average age of death is 14.5 years, although some adults with progeria will live into their early 20s. […] Progeria is a fatal condition that causes early death. The average life expectancy of a person with progeria is 14.5 years. However, some children die as young as 6 years old, and some adults with progeria live into their early 20s. […] Treatment with the drug lonafarnib has shown promising results and has extended the life of people with progeria by two-and-a-half years.

• #25 Progeria (Hutchinson-Gilford Progeria Syndrome HGPS): Symptoms and Causes

  https://www.webmd.com/children/progeria

  The average life expectancy is nearly 15 years old, though with treatment, that average increases to almost 20 years. […] Studies have shown that the lonafarnib extends the lifespan of people with progeria by an average of 4.5 years. […] Progeria is a very rare disease that causes premature aging. With treatment, most people with the disease live an average of about 20 years.

• #26 More than 60 kids in India may suffer from rare Progeria: Medical experts | Latest News India – Hindustan Times

  https://www.hindustantimes.com/india-news/more-than-60-kids-in-india-may-suffer-from-rare-progeria-medical-experts/story-jqs6lPnYCDyEfrLEkxkHTN.html

  Two more children from India have been diagnosed with the extremely rare genetic disorder, Hutchinson-Gilford Progeria Syndrome (HGPS), in 2016, said the Progeria Research Foundation (PRF). […] Based on the prevalence of HGPS worldwide and the total population of India as of October 2016, we estimate that there are 66 children living with the classic form of Progeria in India, said Fink. […] Right from the first medical trial that resulted in increased weight and bone density and better heart functions in Progeria patients, the children are now participating in a new trial, started in April, which will study 10 candidates from two countries to measure effects of treatment on children, changes in health pattern and their survival rate, which is restricted to 15-17 years at the moment. […] What we need is faster identification. Until now, we have noticed we have been able to reach to the child only after he or she is four years old. If the physicians or paediatricians read the symptoms and avoid misdiagnosis, it can lead to better quality of life of Progeria-affected children, said Chindarkar. […] Our Find the Other 150 campaign is designed to do exactly that: search globally for the undiagnosed children with Progeria so that they too can have access to the unique care they need, and help advance clinical science for Progeria, said Fink.

• #27 Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib | Pediatric Research

  https://www.nature.com/articles/pr20189

  HutchinsonGilford progeria syndrome (HGPS) is an ultra-rare, fatal, segmental premature aging syndrome caused by the aberrant lamin A protein, progerin. […] This is the first study to employ a multi-analyte array platform in HGPS. Novel potential biomarkers identified in this study should be further validated by correlations with clinical disease status, especially proteins associated with cardiovascular disease and those that normalized with lonafarnib therapy. […] To date, no validated FDA-approved circulatory biomarker exists for HGPS. We have identified a set of plasma proteins in children with HGPS, before and 1 year after initiating treatment with the farnesyltransferase inhibitor lonafarnib. This is an initial survey step in identifying serologic biomarkers that may provide insight into the natural history of disease, and/or be indicative of improvements with treatment.

• #28 Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib | Pediatric Research

  https://www.nature.com/articles/pr20189

  This implies that such an approach may have significant potential for identifying meaningful plasma protein biomarkers for children with HGPS. Future studies should focus on essential studies that will further evaluate plasma proteins identified here as having abnormal levels in HGPS, namely validation and clinical disease correlations.

• #29 In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice. – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA655566559&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=00280836&p=HRCA&sw=w

  Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C*G-to-T*A mutation (c.1824 C T; p.G608G) in LMNA, the gene that encodes nuclear lamin A. This mutation causes RNA mis-splicing that produces progerin, a toxic protein that induces rapid ageing and shortens the lifespan of children with progeria to approximately 14 years. […] A single injection of ABE-expressing AAV9 at postnatal day 14 improved vitality and greatly extended the median lifespan of the mice from 215 to 510 days. These findings demonstrate the potential of in vivo base editing as a possible treatment for HGPS and other genetic diseases by directly correcting their root cause. In a mouse model of progeria, an adenine base editor delivered with adeno-associated virus corrects the pathogenic mutation in LMNA, rescues vascular pathology and markedly extends the lifespan of the mice.

• #30 More than 60 kids in India may suffer from rare Progeria: Medical experts | Latest News India – Hindustan Times

  https://www.hindustantimes.com/india-news/more-than-60-kids-in-india-may-suffer-from-rare-progeria-medical-experts/story-jqs6lPnYCDyEfrLEkxkHTN.html

  Two more children from India have been diagnosed with the extremely rare genetic disorder, Hutchinson-Gilford Progeria Syndrome (HGPS), in 2016, said the Progeria Research Foundation (PRF). […] Based on the prevalence of HGPS worldwide and the total population of India as of October 2016, we estimate that there are 66 children living with the classic form of Progeria in India, said Fink. […] Right from the first medical trial that resulted in increased weight and bone density and better heart functions in Progeria patients, the children are now participating in a new trial, started in April, which will study 10 candidates from two countries to measure effects of treatment on children, changes in health pattern and their survival rate, which is restricted to 15-17 years at the moment. […] What we need is faster identification. Until now, we have noticed we have been able to reach to the child only after he or she is four years old. If the physicians or paediatricians read the symptoms and avoid misdiagnosis, it can lead to better quality of life of Progeria-affected children, said Chindarkar. […] Our Find the Other 150 campaign is designed to do exactly that: search globally for the undiagnosed children with Progeria so that they too can have access to the unique care they need, and help advance clinical science for Progeria, said Fink.

• #31 More than 60 kids in India may suffer from rare Progeria: Medical experts | Latest News India – Hindustan Times

  https://www.hindustantimes.com/india-news/more-than-60-kids-in-india-may-suffer-from-rare-progeria-medical-experts/story-jqs6lPnYCDyEfrLEkxkHTN.html

  Two more children from India have been diagnosed with the extremely rare genetic disorder, Hutchinson-Gilford Progeria Syndrome (HGPS), in 2016, said the Progeria Research Foundation (PRF). […] Based on the prevalence of HGPS worldwide and the total population of India as of October 2016, we estimate that there are 66 children living with the classic form of Progeria in India, said Fink. […] Right from the first medical trial that resulted in increased weight and bone density and better heart functions in Progeria patients, the children are now participating in a new trial, started in April, which will study 10 candidates from two countries to measure effects of treatment on children, changes in health pattern and their survival rate, which is restricted to 15-17 years at the moment. […] What we need is faster identification. Until now, we have noticed we have been able to reach to the child only after he or she is four years old. If the physicians or paediatricians read the symptoms and avoid misdiagnosis, it can lead to better quality of life of Progeria-affected children, said Chindarkar. […] Our Find the Other 150 campaign is designed to do exactly that: search globally for the undiagnosed children with Progeria so that they too can have access to the unique care they need, and help advance clinical science for Progeria, said Fink.

• #32 Progeria: Sign, Symptoms & Risk Factors | HGPS Causes & Treatment

  https://www.delveinsight.com/blog/progeria-causes-symptoms-risk-factors-and-treatment-options

  The average life expectancy for a person affected with progeria (HGPS) is around 13.5 years. Some children with HGPS may die at a very young age, while some cases have been reported where the affected person has survived till the age of 20. Interestingly enough, in Japan, a person with HGPS (LMNA mutation) managed to survive for 45-years. Heart failure/Atherosclerosis (cardiovascular disease), Stroke, Myocardial Infarction are some of the major reasons for death. […] Progeria is not curable; however, the treatment option eases or delays some of the signs and symptoms. Specific therapies for individuals with HGPS are symptomatic and supportive. Medication, changes in diet lifestyle, and physical occupational therapy are the most common treatment options. The treatments also depend on the child’s condition and symptoms. […] In the coming years, increased awareness about the disease’s unique histology and the launch of emerging therapies are expected to significantly improve the lives of people affected by this rare disease.

• #33 Defining the progeria phenome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10911340/

  As progeroid syndromes have historically been diagnosed and described based solely on phenotypes, comparing syndromes phenotypes to the progeroid phenome using hierarchical clusterings, networks and mean prevalence is a useful and reliable tool for the potential identification of new progeroid syndromes. […] Additionally, defining the progeria phenome optimizes clinical diagnosis of patients presenting with a variety of phenotypes and has allowed us to develop a support vector machine that can predict a syndromes likelihood of being progeroid solely based on phenotypes.

• #34 Progeria: Sign, Symptoms & Risk Factors | HGPS Causes & Treatment

  https://www.delveinsight.com/blog/progeria-causes-symptoms-risk-factors-and-treatment-options

  The average life expectancy for a person affected with progeria (HGPS) is around 13.5 years. Some children with HGPS may die at a very young age, while some cases have been reported where the affected person has survived till the age of 20. Interestingly enough, in Japan, a person with HGPS (LMNA mutation) managed to survive for 45-years. Heart failure/Atherosclerosis (cardiovascular disease), Stroke, Myocardial Infarction are some of the major reasons for death. […] Progeria is not curable; however, the treatment option eases or delays some of the signs and symptoms. Specific therapies for individuals with HGPS are symptomatic and supportive. Medication, changes in diet lifestyle, and physical occupational therapy are the most common treatment options. The treatments also depend on the child’s condition and symptoms. […] In the coming years, increased awareness about the disease’s unique histology and the launch of emerging therapies are expected to significantly improve the lives of people affected by this rare disease.

• #35 Progeria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/progeria

  Progeria causes early death. People with the condition most often only live to their teenage years (average lifespan of 14 years). However, some can live into their early 20s. The cause of death is very often related to the heart or a stroke.

• #36 Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS): Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17850-progeria

  Progeria is always fatal. The average age of death is 14.5 years, although some adults with progeria will live into their early 20s. […] Progeria is a fatal condition that causes early death. The average life expectancy of a person with progeria is 14.5 years. However, some children die as young as 6 years old, and some adults with progeria live into their early 20s. […] Treatment with the drug lonafarnib has shown promising results and has extended the life of people with progeria by two-and-a-half years.

• #37 Progeria (Hutchinson-Gilford Progeria Syndrome HGPS): Symptoms and Causes

  https://www.webmd.com/children/progeria

  The average life expectancy is nearly 15 years old, though with treatment, that average increases to almost 20 years. […] Studies have shown that the lonafarnib extends the lifespan of people with progeria by an average of 4.5 years. […] Progeria is a very rare disease that causes premature aging. With treatment, most people with the disease live an average of about 20 years.

• #38 In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice. – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA655566559&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=00280836&p=HRCA&sw=w

  Hutchinson-Gilford progeria syndrome (HGPS or progeria) is typically caused by a dominant-negative C*G-to-T*A mutation (c.1824 C T; p.G608G) in LMNA, the gene that encodes nuclear lamin A. This mutation causes RNA mis-splicing that produces progerin, a toxic protein that induces rapid ageing and shortens the lifespan of children with progeria to approximately 14 years. […] A single injection of ABE-expressing AAV9 at postnatal day 14 improved vitality and greatly extended the median lifespan of the mice from 215 to 510 days. These findings demonstrate the potential of in vivo base editing as a possible treatment for HGPS and other genetic diseases by directly correcting their root cause. In a mouse model of progeria, an adenine base editor delivered with adeno-associated virus corrects the pathogenic mutation in LMNA, rescues vascular pathology and markedly extends the lifespan of the mice.

• #39 Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib | Pediatric Research

  https://www.nature.com/articles/pr20189

  HutchinsonGilford progeria syndrome (HGPS) is an ultra-rare, fatal, segmental premature aging syndrome caused by the aberrant lamin A protein, progerin. […] This is the first study to employ a multi-analyte array platform in HGPS. Novel potential biomarkers identified in this study should be further validated by correlations with clinical disease status, especially proteins associated with cardiovascular disease and those that normalized with lonafarnib therapy. […] To date, no validated FDA-approved circulatory biomarker exists for HGPS. We have identified a set of plasma proteins in children with HGPS, before and 1 year after initiating treatment with the farnesyltransferase inhibitor lonafarnib. This is an initial survey step in identifying serologic biomarkers that may provide insight into the natural history of disease, and/or be indicative of improvements with treatment.

Zobacz więcej