Blog RSS https://www.vumc.org/buildingbones/ en Drug trial shows reduced abnormal bone formation in those with fibrodysplasia ossificans progressiva https://www.vumc.org/buildingbones/patient-stories/drug-trial-shows-reduced-abnormal-bone-formation-those-fibrodysplasia-ossificans <span class="field field--name-title field--type-string field--label-hidden">Drug trial shows reduced abnormal bone formation in those with fibrodysplasia ossificans progressiva</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Tue, 10/03/2023 - 15:07</span> <a href="/buildingbones/blog-post-rss/40" class="feed-icon" title="Subscribe to Drug trial shows reduced abnormal bone formation in those with fibrodysplasia ossificans progressiva"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://news.vumc.org/2023/09/28/drug-trial-shows-reduced-abnormal-bone-formation-in-those-with-fibrodysplasia-ossificans-progressiva/" target="_blank">https://news.vumc.org/2023/09/28/drug-trial-shows-reduced-abnormal-bone-formation-in-those-with-fibrodysplasia-ossificans-progressiva/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>A multisite, international phase 2 trial evaluating the investigational drug garetosmab has shown that it reduced soft-tissue flare-ups significantly and prevented new areas of abnormal bone formation in patients with fibrodysplasia ossificans progressiva (FOP).</p> <p>Kathryn Dahir, MD, professor of Medicine in the Division of Endocrinology and Diabetes, served as the principal investigator at Vanderbilt University Medical Center for the randomized, double-blinded, placebo-controlled trial to study the efficacy and safety of garetosmab, a human monoclonal antibody. Garetosmab binds to activin A, a protein in the body related to growth, and blocks its ability to activate FOP-mutant ACVR1.</p> <p>The findings, published this week in the journal <a href="https://www.nature.com/articles/s41591-023-02561-8"><em>Nature Medicine</em>,</a> give hope to individuals with the rare disease that effects 1 out of 1 million individuals in the United States. FOP is caused by mutations in the gene ACVR1 which lead to abnormal formation of bone outside of the normal skeleton in soft tissue including muscles, tendons and ligaments throughout the body.</p> </div> <div class="field field--name-field-barista-posts-full-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/buildingbones/sites/default/files/styles/barista_posts_full_image/public/Fibrodysplasia-group-Dahir-EOS20.jpg?itok=25ea7id3" width="576" height="370" alt="" typeof="foaf:Image" class="image-style-barista-posts-full-image" /> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Tue, 03 Oct 2023 20:07:05 +0000 kimberj 40 at https://www.vumc.org/buildingbones A Rare Case of Tumor-induced Osteomalacia https://www.vumc.org/buildingbones/patient-stories/rare-case-tumor-induced-osteomalacia <span class="field field--name-title field--type-string field--label-hidden">A Rare Case of Tumor-induced Osteomalacia</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Tue, 09/05/2023 - 09:19</span> <a href="/buildingbones/blog-post-rss/39" class="feed-icon" title="Subscribe to A Rare Case of Tumor-induced Osteomalacia"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://discoveries.vanderbilthealth.com/2019/09/a-rare-case-of-tumor-induced-osteomalacia/" target="_blank">https://discoveries.vanderbilthealth.com/2019/09/a-rare-case-of-tumor-induced-osteomalacia/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Severe symptoms, blood tests and a key PET scan lead to diagnosis.</p> <p>A 26-year-old man with no prior medical symptoms was having trouble walking. He had pain and weakness throughout his body that was getting worse. He’d been diagnosed with a degenerative disk, a hip fracture and psoriatic arthritis, but none of the recommended therapies were working.</p> <p>“He was a young, otherwise healthy man who had become progressively and rapidly disabled. His degree of disability was profound for somebody of his age,” said <a href="https://medicine.mc.vanderbilt.edu/person/kathryn-m-dahir-md" rel="noopener noreferrer" target="_blank">Kathryn Dahir, M.D.</a>, an endocrinologist at Vanderbilt University Medical Center.</p> <p>By the time Dahir saw the patient, he had fallen so many times that he had fractures in his ribs, ankles and femur. He couldn’t walk unassisted or get up on the exam table by himself. Dahir, a recognized expert in bone disease, immediately began diagnostics with one condition in mind: osteomalacia.</p> </div> <div class="field field--name-field-barista-posts-full-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/buildingbones/sites/default/files/styles/barista_posts_full_image/public/Osteomalacia_1200x700-1024x597.jpg?itok=R-P7kFb7" width="576" height="336" alt="" typeof="foaf:Image" class="image-style-barista-posts-full-image" /> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Tue, 05 Sep 2023 14:19:44 +0000 kimberj 39 at https://www.vumc.org/buildingbones Bone disease doesn’t slow Kid President’s campaign https://www.vumc.org/buildingbones/patient-stories/bone-disease-doesnt-slow-kid-presidents-campaign <span class="field field--name-title field--type-string field--label-hidden">Bone disease doesn’t slow Kid President’s campaign</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Fri, 09/01/2023 - 10:55</span> <a href="/buildingbones/blog-post-rss/37" class="feed-icon" title="Subscribe to Bone disease doesn’t slow Kid President’s campaign"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://news.vumc.org/2013/06/06/bone-disease-doesn%e2%80%99t-slow-kid-president-campaign/" target="_blank">https://news.vumc.org/2013/06/06/bone-disease-doesn%e2%80%99t-slow-kid-president-campaign/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Robby Novak has become known to the world as <a href="http://kidpresident.com/">‘Kid President,’</a> an online YouTube sensation spreading a message about how people can “make the world more awesome.”</p> <p>In videos, he wears a signature black suit and red tie, looking very presidential. But take away the president from Kid President, and he’s just a typical 9-year-old “kid” – who also happens to have a rare brittle bone disease known as osteogenesis imperfecta (OI). Basically, he breaks easily.</p> <p>Osteogenesis imperfecta, a lifelong, chronic condition, affects between 25,000 and 50,000 adults and children in the United States. It’s a rare genetic bone disease characterized by a lack of normal collagen needed to form strong bones. The result is frequent bone fractures, sometimes for no apparent reason. There are different degrees of OI, ranging from a neonatal type, often fatal, to a very mild type that can be underdiagnosed.</p> </div> <div class="field field--name-field-barista-posts-full-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/buildingbones/sites/default/files/styles/barista_posts_full_image/public/KidPresidentphoto-585x329%20%281%29.jpg?itok=53pK-hyL" width="576" height="324" alt="" typeof="foaf:Image" class="image-style-barista-posts-full-image" /> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Fri, 01 Sep 2023 15:55:46 +0000 kimberj 37 at https://www.vumc.org/buildingbones Young bone patient’s progress serves as inspiration to others https://www.vumc.org/buildingbones/patient-stories/young-bone-patients-progress-serves-inspiration-others <span class="field field--name-title field--type-string field--label-hidden">Young bone patient’s progress serves as inspiration to others</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Fri, 09/01/2023 - 10:54</span> <a href="/buildingbones/blog-post-rss/36" class="feed-icon" title="Subscribe to Young bone patient’s progress serves as inspiration to others"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://news.vumc.org/2016/07/21/young-bone-patients-progress-serves-as-inspiration-to-others/" target="_blank">https://news.vumc.org/2016/07/21/young-bone-patients-progress-serves-as-inspiration-to-others/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Janelly Martinez-Amador grabbed headlines and hearts around the world three years ago when news spread of her remarkable fight for survival against a rare metabolic disease at Monroe Carell Jr. Children’s Hospital at Vanderbilt.</p> <p>Born with a genetic disorder called hypophosphatasia (HPP), a metabolic disease that affects the development of bone and teeth, Janelly’s body was unable to make bone. An enzyme deficiency causes the bones to become soft because they can’t absorb important minerals such as calcium and phosphorus, increasing the risks for pain, broken bones and bone deterioration.</p> </div> <div class="field field--name-field-barista-posts-full-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/buildingbones/sites/default/files/styles/barista_posts_full_image/public/Janelly-2016-SG028.jpg?itok=yAqteiyn" width="400" height="311" alt="" typeof="foaf:Image" class="image-style-barista-posts-full-image" /> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Fri, 01 Sep 2023 15:54:16 +0000 kimberj 36 at https://www.vumc.org/buildingbones Dahir receives grant to support study of rare metabolic disorder https://www.vumc.org/buildingbones/patient-stories/dahir-receives-grant-support-study-rare-metabolic-disorder <span class="field field--name-title field--type-string field--label-hidden">Dahir receives grant to support study of rare metabolic disorder</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Fri, 09/01/2023 - 10:22</span> <a href="/buildingbones/blog-post-rss/32" class="feed-icon" title="Subscribe to Dahir receives grant to support study of rare metabolic disorder"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://news.vumc.org/2017/08/17/dahir-receives-grant-to-support-study-of-rare-metabolic-disorder/" target="_blank">https://news.vumc.org/2017/08/17/dahir-receives-grant-to-support-study-of-rare-metabolic-disorder/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Kathryn Dahir, M.D., associate professor of Medicine in the Division of Diabetes, Endocrinology and Metabolism, recently received the Maher Family Grant from Soft Bones Inc., an organization dedicated to providing information, education and support to those affected by hypophosphatasia (HPP).</p> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Fri, 01 Sep 2023 15:22:10 +0000 kimberj 32 at https://www.vumc.org/buildingbones Simmons strives to make a difference in children’s lives https://www.vumc.org/buildingbones/patient-stories/simmons-strives-make-difference-childrens-lives <span class="field field--name-title field--type-string field--label-hidden">Simmons strives to make a difference in children’s lives</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Fri, 09/01/2023 - 10:21</span> <a href="/buildingbones/blog-post-rss/31" class="feed-icon" title="Subscribe to Simmons strives to make a difference in children’s lives"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://news.vumc.org/2015/08/13/simmons-strives-to-make-a-difference-in-childrens-lives/" target="_blank">https://news.vumc.org/2015/08/13/simmons-strives-to-make-a-difference-in-childrens-lives/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Jill Simmons, M.D., encounters medical mysteries that have the makings of a science fiction film or novel.</p> <p>As a pediatric endocrinologist with a special interest in metabolic bone disorders, she sees patients with rare, severe medical conditions — from a child who as an infant had no visibly detectable bone on an X-ray image due to a condition called hypophosphatasia to children who suffer from a fragile bone disorder, osteogenesis imperfecta (OI), that can leave them with dozens of bone fractures before elementary school.</p> </div> <div class="field field--name-field-barista-posts-full-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/buildingbones/sites/default/files/styles/barista_posts_full_image/public/Simmons-tease-585x297.jpg?itok=f7Ta94U_" width="576" height="292" alt="" typeof="foaf:Image" class="image-style-barista-posts-full-image" /> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Fri, 01 Sep 2023 15:21:03 +0000 kimberj 31 at https://www.vumc.org/buildingbones National XLH Day 2022 https://www.vumc.org/buildingbones/patient-stories/national-xlh-day-2022 <span class="field field--name-title field--type-string field--label-hidden">National XLH Day 2022</span> <span class="field field--name-uid field--type-entity-reference field--label-hidden"><span lang="" about="/buildingbones/users/kimberj" typeof="schema:Person" property="schema:name" datatype="">kimberj</span></span> <span class="field field--name-created field--type-created field--label-hidden">Fri, 09/01/2023 - 10:19</span> <a href="/buildingbones/blog-post-rss/30" class="feed-icon" title="Subscribe to National XLH Day 2022"> RSS: <i class="fa fa-rss-square"></i> </a> <div class="field field--name-field-barista-posts-external-url field--type-link field--label-hidden field__item"><a href="https://news.vumc.org/2022/08/11/national-xlh-day/" target="_blank">https://news.vumc.org/2022/08/11/national-xlh-day/</a></div> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p>Vanderbilt recently hosted the National XLH (X-linked hypophosphatemia) Day in the Student Life Center.  More than 200 patients and families attended from around the country. Speakers included Vanderbilt’s Jill Simmons, MD, Kathryn Dahir, MD, and Margaret Maclin, DMD.</p> </div> <div class="field field--name-field-barista-posts-full-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/buildingbones/sites/default/files/styles/barista_posts_full_image/public/Bones%20Group%20Photo.jpg?itok=AzhXO0-c" width="576" height="431" alt="" typeof="foaf:Image" class="image-style-barista-posts-full-image" /> </div> <div class="field field--name-field-lockdown-auth field--type-string field--label-above"> <div class="field__label">Lockdown Auth</div> <div class="field__item">1</div> </div> Fri, 01 Sep 2023 15:19:33 +0000 kimberj 30 at https://www.vumc.org/buildingbones