CINXE.COM

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field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--sim paragraph-id--1938 paragraph--view-mode--default"> <div id="simple-banner-wrapper"> <div class="simple-banner" style=""> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/audrey.png" width="3840" height="1152" alt="audrey" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <div class="quote" style="width:1130px; margin:auto;"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item"><p>Aubrey, diagnosed with PH1</p> </div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--banner-overlay-html-content paragraph-id--1939 paragraph--view-mode--default"> <div class="banner-overlay-html-content-description--component " style="width:1130px; margin:auto;"> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><p class="mobile-eyebrow"><span class="our-secondary-dark">Patients</span></p> <h1 class="secondary-dark text-align-center"><strong>PRIMARY HYPEROXALURIA</strong></h1> <h2 class="text-align-center">Understanding Primary Hyperoxaluria Type 1</h2> <p class="text-center font-20 text-align-center">Primary hyperoxaluria (PH) refers to a group of rare inherited disorders of the liver characterized by the overproduction of oxalate, an end-product of metabolism. High levels of oxalate are toxic because oxalate cannot be broken down by the human body and accumulates in the kidneys.</p> <p>There are three types of PH: type 1 (PH1), type 2 (PH2) and type 3 (PH3). PH1 is an ultra-rare, genetic disease in which excessive amounts of oxalate are produced by the liver. Currently, the only curative treatment for PH1 is a liver transplant. If the patient has already progressed to kidney failure, then a combined liver/kidney transplant is required.</p> </div> </div> </div> </div> <div class="field--item"><section class="colored-four-cards vertical-cards"> <div class=""> <h2 class="colored-cards-header "> PH1 At-A-Glance </h2> <div class="colored-card-container"> <div class="field field--name-field-colored-card field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/infographics.svg"><img src="/sites/default/files/2023-05/infographics.svg" alt="infographics" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p><strong>Roughly 70% to 80%</strong> of all people with primary hyperoxaluria have PH1—the <strong>most common</strong> and <strong>severe type</strong>.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/infographics-50-mobile.svg"><img src="/sites/default/files/2023-05/infographics-50-mobile.svg" alt="1-3 of every million" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>Approximately <strong>1 to 3 of every million people in Europe and North America have PH1</strong> and there is an even higher prevalence of the disease in the <strong>Middle East</strong> and <strong>North Africa</strong> regions.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/infographics-13.svg"><img src="/sites/default/files/2023-05/infographics-13.svg" alt="undiagnosed" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>It’s estimated that about <strong>50%</strong> of all people with PH1 may be <strong>undiagnosed</strong>.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/infographics-kidney-stones.svg"><img src="/sites/default/files/2023-05/infographics-kidney-stones.svg" alt="kidney-stones" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>The <strong>earliest sign of PH1 is often kidney stones</strong> that form due to oxalate overproduction in the liver. However, not all patients with PH1 will experience kidney stones.</p> </div></div> </div> </div> <div class="colored-section-describtion"></div> </div> </section> </div> <div class="field--item"><section class="colored-four-cards horizontal-cards"> <div class=""> <h2 class="colored-cards-header "> PH1 Inside The Body </h2> <div class="colored-card-container"> <div class="field field--name-field-colored-card field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/agxt.svg"><img src="/sites/default/files/2023-05/agxt.svg" alt="agxt" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>PH1 is <strong>caused by defects in the AGXT gene</strong>, which impairs the function of the liver-specific enzyme glyoxylate.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/oxylate.svg"><img src="/sites/default/files/2023-05/oxylate.svg" alt="oxylate" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>In a patient with PH1, the <strong>AGT gene doesn’t process</strong> the glyoxylate normally, and instead, <strong>converts it into oxalate</strong>, which <strong>can’t be metabolized</strong>.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/kidney.svg"><img src="/sites/default/files/2023-05/kidney.svg" alt=" kidney" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>This <strong>excess oxalate</strong> then <strong>accumulates</strong> in the kidneys causing irreparable damage, ultimately leading to <strong>kidney failure</strong>.</p> </div></div> <div class="field--item"><div class="colored-card-wrapper"> <div class="image-field"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <a href="https://www.alnylam.com/sites/default/files/2023-05/whole-body.svg"><img src="/sites/default/files/2023-05/whole-body.svg" alt="whole-body" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </a> </div> </div> <p>Since oxalate can no longer be excreted through the kidneys, it deposits in multiple vital organs including the <strong>eyes, bones, skin and heart</strong>.</p> </div></div> </div> </div> <div class="colored-section-describtion"></div> </div> </section> </div> <div class="field--item"><section class="body-points three-icons"> <div class="baby-blue-bg"> <div class="body-points-container"> <h2 class="body-points-title text-center">What Are The Symptoms of PH1?</h2> <div class="body-points-top-description"> <p>For many patients, PH1 is not diagnosed immediately, and adult patients often spend many years undiagnosed until they present with severe kidney disease or until after their kidneys have failed and they require dialysis to help filter waste products from the blood.</p> <p>As PH1 progresses, it often results in kidney failure, a life-threatening condition that prevents the kidneys from filtering fluids and waste from the body effectively. As a result, the build-up of oxalate can lead to the accumulation of oxalate crystals in the eyes, bones, skin, heart and central nervous system, causing diminished vision, bone fractures, ulcers, heart failure and other serious complications.*</p> </div> <div class="body-points-description"> <p>*Not every person with PH1 will experience all symptoms listed here. Talk to your doctor if you think you are experiencing symptoms of PH1.</p> </div> <div class="body-image-wrapper"> <div class="body-image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/body-point.svg" alt="body-three-dots" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <div class="field field--name-field-add-icon field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#003266;color:#003266"> <h3 style="color:#003266">Deposition of Oxalate Crystals</h3> <ul> <li>Eyes</li> <li>Bones</li> <li>Skin</li> <li>Heart</li> <li>Central nervous system</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-blue_0.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-oxylate.svg" alt="Oxalate Crystals" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#990065;color:#990065"> <h3 style="color:#990065">End-Stage Kidney Failure Symptoms</h3> <ul> <li>Producing little to no urine</li> <li>Feeling ill and tired</li> <li>Loss of appetite, nausea and vomiting</li> <li>Pale skin color</li> <li>Swelling of the hands and feet</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-magenta.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-kidneys.svg" alt="kidneys" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> <div class="field--item"><div class="icon-wrapper"> <div class="icon-description hidden" style="border-color:#6eceb2;color:#6eceb2"> <h3 style="color:#6eceb2">Kidney Stone Symptoms</h3> <ul> <li>Flank Pain (pain in the side of the body)</li> <li>Dysuria (painful urination)</li> <li>Hematuria (blood in the urine)</li> <li>Urinary tract infections (UTIs)</li> </ul> </div> <button class="toggle-popup"> <div class="field field--name-field-default-icon field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/symptoms-plus-green_0.svg" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </button> <div class="icon-div"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/icon-pipeline-default-flank-pain.svg" alt="Flank Pain" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> </div></div> </div> </div> <div class="body-points-blue-box"> <div class="body-points-blue-description"> <div class="d-flex"> <div class="left-section"> <h3>PH1 Backgrounder</h3> <p>Download this fact sheet to learn more about PH1</p> </div> <div class="right-section"><a href="/sites/default/files/pdfs/ph1-disease-burden-infographic-us.pdf" target="_blank">DOWNLOAD PDF <img class="img-responsive" src="/sites/default/files/inline-images/icon-button-download.svg" /></a></div> </div> </div> </div> </div> </div> </section></div> <div class="field--item"> <div class="paragraph paragraph--type--accordion-2-column-content paragraph-id--1958 paragraph--view-mode--default"> <div class="two-column-card-with-left-content hyperoxaluria-accordion transparency-accordion" style="background-color:;"> <div style="width:970px; margin:auto; "> <div class="whole-accordian-column-content" style="overflow:hidden;"> <div class="heading"></div> <div class="whole-accordian-column-content description"> <div class="field field--name-field-video-desc field--type-text-long field--label-hidden field--item"><h2 class="text-align-center">PH1 Manifestations Can Vary By Stage of Life</h2> <p class="font-20 text-align-center">Patients can be diagnosed with PH1 at any age, but most individuals experience their first symptoms in early childhood. Below are some examples of possible symptoms, but are not limited to such.</p> </div> </div> <div class="accordian-content"> <div style="float:left; width:50%;"> <div class="field field--name-field-accordian-left- field--type-entity-reference-revisions field--label-hidden field--item"> <div class="paragraph paragraph--type--accordion-2-column-fields-left paragraph-id--1955 paragraph--view-mode--default"> <div class="left-content" style="display:block;"> <div class="field field--name-field-accordian-left-content field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--accordion-2-column-fields paragraph-id--1954 paragraph--view-mode--default"> <div class="heading"></div> <div class="description"> <div class="field field--name-field-description-text-area field--type-text-long field--label-hidden field--item"><div class="accordion accordion-flush" id="accordionFlushExample11"> <div class="accordion-item"> <h2 class="accordion-header" id="flush-headingTwo"><button aria-controls="flush-collapseeleven" aria-expanded="false" class="accordion-button collapsed" data-bs-target="#flush-collapseeleven" data-bs-toggle="collapse" type="button">Infancy</button></h2> <div aria-labelledby="flush-headingTwo" class="accordion-collapse collapse" data-bs-parent="#accordionFlushExample11" id="flush-collapseeleven"> <div class="accordion-body"> <ul><li>Insufficient weight gain</li> <li>Formation of kidney stones</li> <li>Early kidney failure</li> </ul></div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div style="width:50%; float:right;"> <div class="field field--name-field-accordian-right field--type-entity-reference-revisions field--label-hidden field--item"> <div class="paragraph paragraph--type--accordion-2-column-fields-right paragraph-id--1957 paragraph--view-mode--default"> <div class="left-content"> <div class="field field--name-field-accordian-right-content field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"> <div class="paragraph paragraph--type--accordion-2-column-fields paragraph-id--1956 paragraph--view-mode--default"> <div class="heading"></div> <div class="description"> <div class="field field--name-field-description-text-area field--type-text-long field--label-hidden field--item"><div class="accordion accordion-flush" id="accordionFlushExample3"> <div class="accordion-item"> <h2 class="accordion-header" id="flush-headingSix"><button aria-controls="flush-collapseSix" aria-expanded="false" class="accordion-button collapsed" data-bs-target="#flush-collapseSix" data-bs-toggle="collapse" type="button">Childhood/Adolescence/Adulthood</button></h2> <div aria-labelledby="flush-headingSix" class="accordion-collapse collapse" data-bs-parent="#accordionFlushExample3" id="flush-collapseSix"> <div class="accordion-body"> <ul><li>Multiple kidney stones</li> <li>Progressive kidney disease (including kidney failure)</li> <li>Multi-organ dysfunction</li> </ul></div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="contact-link"></div> </div> </div> </div> </div> <div class="field--item"> <div class="paragraph paragraph--type--body paragraph-id--1959 paragraph--view-mode--default"> <div class="description--component" style="width:px; margin:auto; "> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item"><div class="whole-patient-comes-first-section custom-video" style="background:#00254b;"> <div class="content pl-0"> <div class="description"> <div class="field field--name-field-body field--type-text-with-summary field--label-hidden field--item" data-quickedit-field-id="paragraph/327/field_body/en/default"> <h2 class="text-center">PH1 Perspectives</h2> </div> </div> </div> <div class="image-quote overlap"> <div class="image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item" data-quickedit-field-id="paragraph/327/field_upload_image/en/default"><img alt="skinner-with-lines" src="/sites/default/files/inline-images/skinner-with-lines_0.png" /></div> </div> <div class="quote"> <div class="field field--name-field-qutote field--type-text-long field--label-hidden field--item" data-quickedit-field-id="paragraph/327/field_qutote/en/default"> <p class="quote-text">It was a huge shock to our family and her road ahead indeed proved very challenging.</p> <p class="text-align-right"><span>– The Skinner Family, living with PH1</span></p> </div> </div> <div class="cboxElement as" data-colorbox-inline=".patients-comes-first-video-home"> <div class="three-column-video-play-button"> </div> </div> <div class="patients-comes-first-video-home" style="display: none;"> <div class="field field--name-field-embed-video field--type-video-embed-field field--label-hidden field--item" data-once="quickedit" data-quickedit-field-id="paragraph/464/field_embed_video/en/default"> <div class="video-embed-field-provider-youtube video-embed-field-responsive-video form-group"><iframe allowfullscreen="allowfullscreen" data-gtm-yt-inspected-6886893_103="true" frameborder="0" height="480" id="566659760" src="https://www.youtube.com/embed/8ZKPm2--0CY?start=0&rel=0" width="854"></iframe></div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="field--item"><section class="center-cards-section"> <div class="center-cards-container"> <h2>Additional Information</h2> <div class="center-cards-wrapper"> <div class="field field--name-field-add-center-card field--type-entity-reference-revisions field--label-hidden field--items"> <div class="field--item"><div class="center-card-item"> <div class="center-cards-image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/take-on-ph1.png" width="813" height="498" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <h3>Take On PH1™</h3> <div class="center-card-description"> <p>Take on PH1™ is dedicated to helping patients and their caregivers learn about primary hyperoxaluria type 1 (PH1).</p> <p><a data-colorbox-inline=".card-one">VISIT SITE ›</a></p> <div class="popup-content" style="display:none; background:#fff; padding:opx;"> <div class="card-one popup-content" style="background: rgb(255, 255, 255); display: none;"> <h2 class="text-align-center">YOU ARE NOW LEAVING ALNYLAM.COM</h2> <p class="text-align-center">You are now being directed to another Alnylam website that contains information about specific treatment(s).</p> <p class="text-align-center"><a class="text-center" href="https://takeonph1.com/" target="_blank">Proceed to Site</a></p> </div> </div> </div> </div></div> <div class="field--item"><div class="center-card-item"> <div class="center-cards-image"> <div class="field field--name-field-upload-image field--type-image field--label-hidden field--item"> <img src="/sites/default/files/2023-05/alnylam-act_0.png" width="813" height="498" alt="" loading="lazy" typeof="foaf:Image" class="img-responsive" /> </div> </div> <h3>Alnylam Act®</h3> <div class="center-card-description"> <p>Alnylam Act® provides no-charge independent genetic testing and counseling to individuals in the U.S. and Canada who may have primary hyperoxaluria type 1 (PH1).</p> <p><a href="/medical-professional-resources/genetic-testing-counseling">GET MORE INFO ›</a></p> </div> </div></div> </div> </div> <div class="center-cards-footnote mt-56"> <p>Take on PH1, Alnylam Act, and their associated logos are trademarks of Alnylam Pharmaceuticals, Inc. © 2023 Alnylam Pharmaceuticals, Inc. 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