Progeria occurs in approximately 1 in 4 – 8 million newborns, affecting both sexes equally and all races.\u00a0 One in 18-20 million living individuals has classic Progeria, and there are an estimated 400 children living with Progeria worldwide.\u00a0 Since The Progeria Research Foundation (PRF) was created in 1999, we have found and helped children with Progeria living in 72 countries and all continents.[2]<\/a><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”What are the features of Progeria?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”What are the features of Progeria?” _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n Although they are usually born looking healthy, most children with Progeria begin to display characteristics of Progeria within the first year of life. Sometimes the earliest signs of Progeria are tightness or bulging of the skin in the abdominal and\/or thigh area, and failure to thrive (falling well below the pediatric growth curve). Other early Progeria signs include loss of body fat and hair, skin changes, joint contractures and some telltale x-ray findings. Children reach an average maximum height of 125 cm (49.21 inches) and 25 kg (55.12 pounds). The children have a remarkably similar appearance despite differing ethnic backgrounds. As children get older, they develop accelerated atherosclerosis and cardiovascular (heart) disease. This is the same atherosclerosis that usually affects people in their 60s or older, but it affects those with Progeria much earlier and at a rapid rate.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”What is the cause of Progeria?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”What is the cause of Progeria?” module_id=”#ftn8″ _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n A group of leading scientists from PRF\u2019s Genetics Consortium including Dr. Francis Collins, then Director of the National Human Genome Research Institute, isolated the Progeria gene. In April 2003, the Consortium reported this finding in the top scientific journal Nature.[3]<\/a><\/em><\/p>\n \u201cIsolating<\/em> the<\/em> Progeria<\/em> gene<\/em> is<\/em> a major achievement for the medical research community,\u201d <\/em>said Dr. Francis Collins, senior author of the Progeria gene mutation report. \u201cThe discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease.\u201d<\/em><\/p>\n The Progeria gene discovery revealed that Progeria is caused by a mutation in the gene called LMNA <\/em>(pronounced \u201clamin-A\u201d). The LMNA <\/em>gene produces the lamin A protein, which is part of the structural scaffolding that holds the nucleus of a cell together and helps to keep cells healthy. The abnormal lamin A protein that causes Progeria is called progerin<\/em><\/strong>. Progerin makes cells unstable, which leads to the process of premature aging and disease in Progeria.<\/p>\n [\/et_pb_toggle][et_pb_toggle title=”What does Progeria have to do with aging?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”What does Progeria have to do with aging?” module_id=”#ftn8″ _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n Perhaps the most exciting clue into the aging process is the discovery that the progerin protein is present at increasing concentrations in both Progeria and normal cells as we age. Our bodies accumulate progerin within the cells of the cardiovascular system at rate of about 3% each year (much lower than in children and young adults with Progeria). Thus, understanding Progeria promises new avenues for understanding the natural aging process.<\/p>\n Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death worldwide<\/strong>.[4]<\/a> Thus, there is clearly a tremendous need for research in Progeria. Finding a cure for Progeria will not only help those with Progeria, but may also provide clues for treating millions of adults with heart disease and stroke <\/strong>associated with the natural aging process.<\/strong><\/p>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”Is Progeria passed down from parent to child?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”Is Progeria passed down from parent to child?” _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n HGPS is not usually passed down in families. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of \u201cprogeroid\u201d syndromes which are not HGPS may have diseases that are passed down in families. However, HGPS is a \u201csporadic autosomal dominant\u201d mutation \u2013 sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome. For parents who have never had a child with Progeria, the chances are one in 4 \u2013 8 million. But for parents who have already had a child with Progeria, the chances of it happening again to those parents is much higher \u2013 about 2-3%. Why the increase? This is due to a condition called \u201cmosaicism,\u201d where a parent has the genetic mutation for Progeria in a small proportion of their cells, but does not have Progeria. Prenatal testing during pregnancy is available to look for the LMNA <\/em>genetic change that causes HGPS in the fetus.<\/p>\n<\/div>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”How is Progeria diagnosed?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”How is Progeria diagnosed?” _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n Because of the historic Progeria gene discovery, we have a definitive, scientific way to diagnose the children. <\/em><\/strong>This results in more accurate and earlier diagnoses so they can receive proper care. The Progeria Research Foundation has a Diagnostic Testing Program <\/strong><\/a>that looks\u00a0at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child\u2019s appearance and medical records), a sample of the child\u2019s blood is tested for Progeria. \u00a0Genetic testing is also available at some genetic diagnostics facilities.\u00a0 Accompanying genetic counseling is always advised.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”Is there treatment for Progeria?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”Is there treatment for Progeria?” module_id=”#ftn8″ _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n Yes<\/em>! History was made in September 2012<\/strong>, when the results of the first-ever Progeria clinical drug trial demonstrated that lonafarnib, a farnesyltransferase inhibitor (or FTI), was an effective treatment for Progeria[5]<\/a>. All trial participants experienced significant improvements in weight gain, bone structure, and most importantly, the cardiovascular system.<\/p>\n Two subsequent studies, one from 2018<\/strong> published in the Journal of the American Medical Association<\/em> (JAMA)[6]<\/a>, <\/em>and one from 2023<\/strong> published in Circulation[7]<\/a>,<\/em> demonstrated that lonafarnib helped extend survival in children with Progeria.<\/p>\n The 2012<\/strong> and 2018<\/strong> studies led to the extraordinary 2020<\/strong> U.S. Food & Drug Administration (FDA) approval of lonafarnib, now branded as \u2018Zokinvy,\u2019 as the first-ever treatment for Progeria. A critical milestone in PRF\u2019s mission, this approval was the culmination of 13 years of clinical research involving four clinical trials, bringing 96 children from 37 countries to Boston for treatment.<\/p>\n With this milestone, Progeria joined the ranks of fewer than 5% of rare diseases with an FDA-approved treatment.<\/p>\n Soon after the FDA approval of lonafarnib, the European Medicines Agency (EMA) approved lonafarnib for use in Europe in July 2022, followed by the Japanese Ministry of Health, Labor and Welfare (MHLW) in January 2024.<\/p>\n Without lonafarnib, the children die of atherosclerosis (heart failure or strokes) at an average age of 14.5 years [6]<\/a><\/em>\u00a0.\u00a0 With long-term lonafarnib treatment, cardiovascular health is significantly improved, and life expectancy has been shown to increase by an average of 4.5 years7<\/span>. \u00a0<\/strong>That\u2019s more than a 30% increase in average lifespan, from 14.5 years to almost 20 years of age!<\/p>\n With the children living longer due to lonafarnib therapy, physicians are seeing aortic stenosis (narrowing of a critical heart valve) as a problem in the older children and young adults with Progeria that may be amenable to lifesaving surgery. In some cases, surgery to insert new heart valves or open blood vessels supplying the heart (stents) has helped to improve the health of patients in later stages of disease[8]<\/span><\/a>.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”What are the more recent developments in Progeria research?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”What are the more recent developments in progeria research?” module_id=”#ftn8″ _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n PRF is heavily involved in the development of three other therapeutic pathways<\/strong>, each of which has shown varying levels of increased lifespan when studied in Progeria mouse models \u2013 from 50% to an astonishing 140%!\u00a0 Our goals are to discover new treatments that will work even better than lonafarnib alone, and to eventually cure Progeria by correcting the genetic mutation. We are targeting the disease at the protein, RNA and DNA levels.<\/em><\/strong><\/p>\n \u201cTo see this dramatic response in our Progeria mouse model is one of the most exciting therapeutic developments I have been part of in 40 years as a physician-scientist,\u201d said Francis Collins, MD, PhD.<\/em><\/p>\n [\/et_pb_toggle][et_pb_toggle title=”How is PRF advancing the research toward a future cure, and helping children with Progeria today?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”How is PRF advancing the research toward a future cure, and helping children with Progeria today?” _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n To help answer many questions on caring for someone with Progeria, PRF published The Progeria Handbook<\/strong><\/a>\u00a0<\/strong>for families and doctors. From basic health facts to daily care recommendations to extensive treatment guidelines, the handbook provides a supportive resource to help optimize quality of life for people with Progeria across the globe. The most recent edition of the Handbook is available in English, Spanish, Japanese, Portuguese, Italian, Arabic and Chinese. The handbook will also be available in other languages.<\/p>\n PRF is also driving Progeria clinical drug trials <\/strong><\/a>that are testing potential treatments, and to date, has funded and co-coordinated four clinical trials. PRF is leaving no stone unturned in our exploration of promising drugs that will bring us closer to the cure.<\/em><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_toggle title=”What can you do to help children with Progeria?” open_toggle_background_color=”#f7f7f7″ closed_toggle_text_color=”#ffffff” closed_toggle_background_color=”#00b2e2″ icon_color=”#ffc15e” open_icon_color=”#ffc15e” admin_label=”What can you do to help children with Progeria?” _builder_version=”4.24.3″ title_text_color=”#00b2e2″ background_color=”#ffffff” custom_margin=”10px||10px||true” custom_padding=”|50px||50px||true” animation_style=”slide” animation_direction=”top” animation_intensity_slide=”25%” link_option_url_new_window=”on” hover_enabled=”0″ z_index_tablet=”500″ border_width_all=”0px” global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n We look forward to connecting with you!<\/strong><\/li>\n<\/ul>\n <\/p>\n [\/et_pb_toggle][et_pb_text admin_label=”references” module_id=”referencefour” _builder_version=”4.24.3″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n References<\/strong><\/span><\/a><\/p>\n [1] Other Progeroid syndromes include Werner\u2019s syndrome, also known as \u201cadult progeria\u201d which does not have an onset until the late teen years, with a lifespan into the 40\u2019s and 50\u2019s.<\/p>\n [2]<\/a> For a map of where living children reside, please go to https:\/\/www.progeriaresearch.org\/meet-the-kids\/.<\/p>\n [3]<\/a> \u201cRecurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome,\u201d Nature, Vol. 423, May 15, 2003.<\/p>\n [4]<\/a> 2021 American Heart Association Heart Disease and Stroke Statistics.<\/p>\n [5]<\/a> Gordon LB, Kleinman ME, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2012 Oct 9;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Epub 2012 Sep 24.<\/p>\n [6]<\/a> Gordon LB, Shappell H, Massaro J, et al. Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. JAMA. 2018;319(16):1687\u20131695.<\/p>\n [7]<\/a>\u00a0Gordon, L.B., Norris, W., Hamren, S.,\u00a0et al<\/em>. Plasma Progerin in Patients with Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation.\u00a0Circulation<\/em>, 2023.<\/p>\n [8]<\/a> Gordon LB, Basso S, et al. Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome.\u00a0Front. Cardiovasc. Med.<\/em>\u00a011:1356010. doi: 10.3389\/fcvm.2024.1356010 (2024).<\/p>\n [9]<\/a> Koblan, L.W., Erdos, M.R., Wilson, C. et al. In vivo base editing rescues Hutchinson\u2013Gilford progeria syndrome in mice. Nature 589, 608\u2013614 (2021).<\/p>\n [10]<\/a> Erdos, M.R., Cabral, W.A., Tavarez, U.L. et al. A targeted antisense therapeutic approach for Hutchinson\u2013Gilford progeria syndrome. Nat Med (2021). https:\/\/doi.org\/10.1038\/s41591-021-01274-0<\/p>\n [11]<\/a> Puttaraju, M., Jackson, M., Klein, S. et al. Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson\u2013Gilford progeria syndrome. Nat Med (2021). https:\/\/doi.org\/10.1038\/s41591-021-01262-4<\/p>\n [12]<\/a> Kang SM, Yoon MH, et al. Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome. Commun Biol<\/em>. 2021 Jan 4; 4(1):5.<\/a><\/p>\n [13]<\/a> Gordon, L.B., Norris, W., Hamren, S., et al. Plasma Progerin in Patients with Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation. Circulation<\/em>, 2023<\/p>\n [\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built=”1″ module_class=”footer” _builder_version=”4.21.0″ background_color=”#29327a” custom_margin=”-2px|||||” custom_padding=”0|0px|0|0px|false|false” z_index_tablet=”500″ border_width_top=”12px” border_color_top=”#00b2e2″ global_module=”133″ locked=”off” global_colors_info=”{}”][et_pb_row_inner column_structure=”1_3,1_3,1_3″ disabled_on=”on|on|on” _builder_version=”4.21.0″ _module_preset=”default” min_height=”277px” custom_margin=”|20px|30px||false|false” custom_padding=”0px|30px|0px||false|false” disabled=”on” global_colors_info=”{}”][et_pb_column_inner type=”1_3″ saved_specialty_column_type=”3_4″ _builder_version=”4.21.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2023\/08\/Startbanner-1.png” title_text=”Startbanner” url=”https:\/\/www.gravoc.com\/” align=”right” _builder_version=”4.21.0″ _module_preset=”default” custom_margin=”|-50px||20px|false|false” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column_inner][et_pb_column_inner type=”1_3″ saved_specialty_column_type=”3_4″ _builder_version=”4.21.0″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_column_inner][et_pb_column_inner type=”1_3″ saved_specialty_column_type=”3_4″ _builder_version=”4.21.0″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2023\/07\/RFRFinish.png” title_text=”RFRFinish” _builder_version=”4.21.0″ _module_preset=”default” custom_margin=”|20px||-50px|false|false” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row column_structure=”1_4,1_4,1_2″ make_equal=”on” module_class=” et_pb_row_fullwidth” _builder_version=”4.16″ width=”89%” width_tablet=”80%” width_phone=”” width_last_edited=”on|desktop” max_width=”89%” max_width_tablet=”80%” max_width_phone=”” max_width_last_edited=”on|desktop” z_index_tablet=”500″ make_fullwidth=”on” width_unit=”off” custom_width_percent=”100%” global_colors_info=”{}”][et_pb_column type=”1_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_cta button_url=”https:\/\/www.progeriaresearch.org\/newsletter-signup\/” button_text=”Sign Up Now” admin_label=”Sign Up for Newsletter” module_class=”sign-btn” _builder_version=”4.16″ header_font_size=”25px” background_color=”#29327a” animation_style=”slide” animation_direction=”left” animation_intensity_slide=”25%” header_font_size_tablet=”” header_font_size_phone=”30px” header_font_size_last_edited=”on|desktop” z_index_tablet=”500″ border_radii=”on|25px|25px|25px|25px” global_colors_info=”{}” button_bg_color__hover_enabled=”on” button_bg_color__hover=”#8fd2ed” button_border_color__hover_enabled=”on”]<\/p>\n [\/et_pb_cta][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_cta button_url=”https:\/\/progeriaresearch.donorsupport.co\/-\/XZHJVWZR” button_text=”Donate Now” admin_label=”Together, we will find the cure!” module_class=”sign-btn” _builder_version=”4.16″ header_font_size=”25px” background_color=”#29327a” animation_style=”slide” animation_direction=”left” animation_intensity_slide=”25%” header_font_size_tablet=”” header_font_size_phone=”30px” header_font_size_last_edited=”on|desktop” body_font_size_tablet=”” body_font_size_phone=”” body_font_size_last_edited=”on|desktop” z_index_tablet=”500″ border_radii=”on|25px|25px|25px|25px” global_colors_info=”{}” button_bg_color__hover_enabled=”on” button_bg_color__hover=”#8fd2ed” button_border_color__hover_enabled=”on”]<\/p>\n [\/et_pb_cta][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2024\/02\/2024-strip-footer-strip-.png” title_text=”2024 strip footer strip” _builder_version=”4.24.0″ _module_preset=”default” custom_margin=”35px||||false|false” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" [et_pb_section fb_built=”1″ fullwidth=”on” disabled_on=”off|off|off” _builder_version=”4.16″ border_width_bottom=”55px” border_color_bottom=”#29327a” global_colors_info=”{}”][et_pb_fullwidth_header _builder_version=”4.16″ title_font_size=”55″ background_color=”#29327a” background_image=”https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/About-Header.jpg” background_position=”center_left” custom_padding=”11.5vw||11.5vw||true” custom_padding_tablet=”” custom_padding_phone=”|56px||” custom_padding_last_edited=”on|desktop” title_font_size_tablet=”45px” title_font_size_phone=”40px” title_font_size_last_edited=”on|phone” z_index_tablet=”500″ custom_css_main_element=”background-position: center 18% !important;” global_colors_info=”{}”] Progeria 101 \/ FAQ [\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=”1″ use_custom_gutter=”on” gutter_width=”1″ specialty=”on” padding_left_1=”35px” padding_left_2=”35px” padding_2_tablet=”|||0px” padding_2_phone=”|||0px” padding_2_last_edited=”on|desktop” module_class_1=”sidebar-secondary-nav” module_class=”handprint-bg” _builder_version=”4.16″ background_image=”https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png” parallax=”on” parallax_method=”off” inner_width=”100%” inner_max_width=”100%” custom_padding=”0|0px|54px|0px|false|false” z_index_tablet=”500″ border_width_top=”10px” border_color_top=”#8fd2ed” use_custom_width=”on” width_unit=”off” custom_width_percent=”100%” […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"\t\t\t\t[vc_row][vc_column][vc_custom_heading text=\"Progeria 101\/FAQ\" font_container=\"tag:h1|text_align:center\" use_theme_fonts=\"yes\"][vc_column_text]\r\n Hutchinson-Gilford Progeria Syndrome \u201cProgeria\u201d or \u201cHGPS\u201d is a rare, fatal genetic condition characterized by an appearance of\u00a0accelerated aging in children*.\u00a0 Its name is derived from Greek and means \"prematurely old.\"\u00a0 While there are different forms of Progeria*<\/a>, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.<\/p>\r\n\r\n Progeria is caused by a tiny point mutation in a child's DNA, a one-letter typo in the billions of letters that make up the chromosomal book.<\/p>\r\n*<\/a> Other Progeroid syndromes include Werner syndrome, also known as \u201cadult progeria\u201d which does not have an onset until the late teen years, with a lifespan into the 40\u2019s and 50\u2019s.\u00a0Click here <\/a>for information on Werner Syndrome[\/vc_column_text][vc_column_text]\r\n Now that the gene mutation has been identified, The Progeria Research Foundation has a Diagnostic Testing Program<\/strong><\/a>.\u00a0 We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child\u2019s appearance and medical records), a sample of the child\u2019s blood will be tested for Progeria.\u00a0 PRF provides a definitive, scientific way to diagnose the children.<\/em> This leads to more accurate and earlier diagnoses so the children can receive proper care.<\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1555429336142{background-color: #ffffff !important;}\"]\r\n![\"\"](\"https:\/\/www.progeriaresearch.org\/assets\/images\/medical_images\/progeria-cell.jpg\")
Progeria Cell Nucleus<\/strong><\/p>\n<\/div>\n\n
In January 2021<\/strong>, the science journal Nature<\/em> published breakthrough results demonstrating that genetic editing in a mouse model of Progeria corrected the Progeria mutation in many cells, improved several key disease symptoms and increased lifespan in the mice by 140%<\/strong>[9].<\/a> Additional preclinical studies are needed to investigate these results, which we hope will one day lead to a clinical trial.<\/li>\n<\/ol>\n\n
In March 2021<\/strong>, PRF contributed to two very exciting breakthrough studies on the use of RNA therapeutics, both of which attempt to block the body\u2019s ability to produce progerin production at the RNA level. One study showed that treating Progeria mice with a drug named SRP2001 reduced the harmful progerin mRNA and protein expression in the aorta, the main artery in the body, as well as in other tissues. At the end of the study, the mice demonstrated an increased survival of 62%<\/strong>[10]<\/a>.
<\/strong><\/strong>The other study showed a 90 \u2013 95% reduction of the toxic progerin-producing RNA in different tissues after treatment with a drug called LB143. Progerin protein reduction was most effective in the liver, with additional improvements in the heart and aorta.[11]<\/span><\/a>This genetic correction is temporary, thus ongoing treatment to maintain the correction is required.<\/li>\n
A drug called progerinin has shown great promise. In a Progeria mouse model, progerinin increased body weight and extended lifespan by 10 weeks, a substantial breakthrough, compared with lifespan extension of two weeks in lonafarnib-treated mice.[12]<\/a>The field of Progeria research is making major advancements, continuously growing in scope and sophistication as the search for effective treatments and the cure continues. Brilliant, passionate researchers are leading the field to breakthroughs and new treatments that help children with Progeria live longer, healthier lives, while also driving discovery in heart disease and aging.In addition to exploration of new pathways toward treatments and the cure, in March 2023, PRF reported findings on the discovery of a Progeria biomarker, a new way to measure progerin<\/strong>, the toxic protein that causes Progeria. A biomarker has a game-changing capacity to unlock the promise of smarter and faster drug trials, and better treatments. Using blood plasma to measure progerin levels, researchers can understand how treatments are affecting clinical trial participants after a shorter period of time and at multiple points along each clinical trial, instead of relying on subjective clinical features.This test can optimize the clinical trial process by providing early information about the effectiveness of treatments being tested, as a lead-in to other clinical tests such as weight gain, dermatologic changes, joint contracture and function, etc., all of which require much more time to manifest. We may now be able to understand treatment benefits as early as four months after starting treatment, or stop a treatment that may not benefit the trial participant, to avoid unnecessary side effects.[13]<\/a><\/span><\/a> <\/a><\/li>\n<\/ol>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n![\"\"](\"https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/HBenglish-front.jpg\")
The Progeria Research Foundation funds medical research <\/strong>aimed at developing treatments and the cure for Progeria. PRF also has its own Cell and Tissue Bank<\/strong><\/a>\u00a0<\/strong>that provides the biological materials researchers need to conduct their experiments. Additionally, PRF has a Medical and Research Database<\/strong><\/a>\u00a0– <\/strong>a centralized collection of medical information from Progeria patients worldwide. The data are rigorously analyzed to help us understand more about Progeria and devise treatment recommendations.<\/p>\n\n
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<\/em>Do you know anyone who can help? <\/em>Tell your friends, family and colleagues about PRF and the lifesaving work we do! Many times, people are more likely to donate to an organization if they\u2019ve gotten a recommendation from someone they know. So put in a good word for us and tell everyone to follow us on X<\/a>@progeria, \u201clike\u201d us on Facebook<\/a>, check out our photos on Instagram<\/a> @progeriaresearch, get to know the Progeria community through some YouTube videos<\/a>, and contact us directly at info@progeriaresearch.org<\/a>.\n\n
TOGETHER WE WILL FIND THE CURE!<\/em><\/strong><\/span><\/h4>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n
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Together, we<\/h2>\n
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What is Progeria?<\/h1>\r\n
Did you know?<\/h1>\r\n
How common is Progeria?<\/h1>\r\nProgeria affects approximately 1 in 20 million people.\u00a0 There are an estimated 350-400 children living with Progeria worldwide at any one time.\u00a0 It affects both sexes equally and all races.\u00a0 Since The Progeria Research Foundation was created in 1999, we have discovered children with Progeria living in 52 countries and speaking 32 languages.\r\n\r\nFor a map of where living children reside, please go to our Meet the Kids<\/a> page.[\/vc_column_text][vc_column_text]\r\n
What are the features of Progeria?<\/h1>\r\nAlthough they are usually born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first 2 years of life.\u00a0 Signs of Progeria include growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints.\u00a0 As children get older, they suffer from atherosclerosis, cardiovascular (heart) disease and sometimes have strokes.\u00a0 The children have a remarkably similar appearance despite differing ethnic backgrounds. Children with Progeria die of heart failure at an average age of fourteen years.[\/vc_column_text][vc_column_text]\r\n
What is the cause of Progeria?<\/h1>\r\n[caption id=\"\" align=\"alignnone\" width=\"142\"]
Progeria Cell Nucleus.[\/caption]\r\n\r\nHGPS is caused by a mutation in the gene called LMNA<\/em> (pronounced \u201clamin-a\u201d). The LMNA<\/em> gene produces the lamin A protein which is the structural scaffolding that holds the nucleus of a cell together. The abnormal lamin A protein that causes Progeria is called progerin<\/em>.\u00a0 Progerin makes the nucleus unstable.\u00a0 That cellular instability leads to the process of premature aging and disease in Progeria.\r\n\r\nPRF was the driving force behind finding the gene responsible for Progeria. A group of leading scientists from PRF\u2019s Genetics Consortium was able to isolate the Progeria gene, and in April 2003, PRF led the announcement reported in the top scientific journal Nature<\/em>v<\/a>.\r\n\r\n\u201cIsolating the Progeria gene is a major achievement for the medical research community,\u201d<\/em> said Dr. Francis Collins, Director of the National Institutes of Health and senior discoverer of the Progeria gene, \u201cThe discovery not only gives hope to children and families affected by<\/em>\r\n\r\nProgeria, but also may shed light on the phenomenon of aging and cardiovascular disease.\u201d<\/em>\r\n\r\nv<\/a> \u201cRecurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome\u201d, \u00a0Nature<\/em>, \u00a0Vol. 423, \u00a0May 15, 2003.[\/vc_column_text][vc_column_text]\r\nWhat does Progeria have to do with aging?<\/h1>\r\nWe now know that there is a biological overlap between children with Progeria and the general aging population.\u00a0 We all make a little bit of progerin<\/em>, the disease-causing protein in Progeria. We make much less progerin than children with Progeria, but the progerin builds up over a lifetime and may be partly responsible for aspects of aging such as atherosclerosis.\u00a0 Progerin is also linked to telomere dysfunction.\u00a0 Telomeres are proteins that play a major role in cellular aging.\r\n\r\nChildren with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death worldwide.+<\/a>\u00a0 Thus, there is clearly a tremendous need for research in Progeria.\u00a0 Finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process.\r\n\r\n\u00a0<\/strong>+<\/a> \u00a02016 American Heart Association Heart Disease and Stroke Statistics[\/vc_column_text][vc_column_text css=\".vc_custom_1495542400027{background-color: #ffffff !important;}\"]\r\n
Is Progeria passed down from parent to child?<\/h1>\r\nHGPS is not usually passed down in families. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of \u201cprogeroid\u201d syndromes which are not HGPS may have diseases that are passed down in families. However, HGPS is a \u201csporadic autosomal dominant\u201d mutation \u2013 sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome. For parents who have never had a child with Progeria, the chances of having a child with Progeria are 1 in 20 million. But for parents who have already had a child with Progeria, the chances of it happening again to those parents is much higher \u2013 about 2-3%. Why the increase? This is due to a condition called \u201cmosaicism\u201d, where a parent has the genetic mutation for Progeria in a small proportion of their cells, but does not have Progeria. Prenatal testing is available to look for the LMNA <\/em>genetic change that causes HGPS.[\/vc_column_text][vc_column_text css=\".vc_custom_1508524802591{background-color: #ffffff !important;}\"]\r\n
How is Progeria diagnosed?<\/h1>\r\n
What is PRF doing to help children with Progeria?<\/h1>\r\n
PRF is also driving Progeria clinical drug trials testing potential treatments.\u00a0 To date, PRF has funded and co-coordinated three clinical trials. Please refer to our clinical drug trials <\/strong><\/a>section for more details.\u00a0History was made in September 2012 with the discovery that the drug involved in the first clinical trial, a farnesyltransferase inhibitor or FTI , is the first-ever treatment for Progeria \u2666.\u00a0 PRF continues to explore other promising drugs that will bring us to a cure for Progeria. \u00a0<\/strong>The Progeria Research Foundation funds medical research aimed at developing treatments and a cure for Progeria.\u00a0 PRF also has its own Cell & Tissue Bank<\/strong><\/a> that provides the biological materials researchers need to conduct their experiments.\u00a0 Additionally, PRF has established a Medical & Research Database<\/strong><\/a> to supply physicians and families with medical recommendations for cardiac care, nutrition and other medical issues to help children and adults with Progeria have a better quality of life.\u00a0 We continue to analyze medical records of children and adults with Progeria so that we can provide information on how best to medically help those with Progeria, and provide clues towards potential new treatments.\u00a0 PRF \u00a0has also published