Crandi

Fibrodysplasia Ossificans Progressiva Overview And Advocacy Youtube

Leo Migdal
-
fibrodysplasia ossificans progressiva overview and advocacy youtube

By: Madaline Spencer| Published on: Jun 18, 2024 Michelle Davis, Executive Director of the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), gives an overview of this rare disease as well as IFOPA’s advocacy work. FOP is a rare disorder in which skeletal muscle and connective tissue are gradually replaced by bone. This condition leads to bone formation outside of the skeleton that restricts movement. This generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes which can be helpful in making the diagnosis.

Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation. These flare ups last for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a genetic change at the same place in the ACVR1 gene. Current management of the disease relies mainly on symptom management. However, Sohonos (palovarotene) was recently approved to slow bone growth in adults and children aged 8 years and older for females, and 10 years and older for males. Ms.

Davis describes the importance of consistency in advocacy groups, who are the voice for patients. The IFOPA also focuses on helping patients enroll in the four ongoing and fifth upcoming clinical trials for FOP. Author for correspondence (pingham@ntu.edu.sg) This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly... Heterotopic ossification (HO) is a disorder characterised by the formation of ectopic bone in soft tissue. Acquired HO typically occurs in response to trauma and is relatively common, yet its aetiology remains poorly understood.

Genetic forms, by contrast, are very rare, but provide insights into the mechanisms of HO pathobiology. Fibrodysplasia ossificans progressiva (FOP) is the most debilitating form of HO. All patients reported to date carry heterozygous gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1). These mutations cause dysregulated bone morphogenetic protein (BMP) signalling, leading to HO at extraskeletal sites including, but not limited to, muscles, ligaments, tendons and fascia. Ever since the identification of the causative gene, developing a cure for FOP has been a focus of investigation, and studies have decoded the pathophysiology at the molecular and cellular levels, and explored novel... Based on the established role of BMP signalling throughout HO in FOP, therapeutic modalities that target multiple levels of the signalling cascade have been designed, and some drugs have entered clinical trials, holding out...

A potential role of other signalling pathways that could influence the dysregulated BMP signalling and present alternative therapeutic targets remains a matter of debate. Here, we review the recent FOP literature, including pathophysiology, clinical aspects, animal models and current management strategies. We also consider how this research can inform our understanding of other types of HO and highlight some of the remaining knowledge gaps. KEY WORDS: Bone morphogenetic protein, ACVR1, Fibrodysplasia ossificans progressiva, Heterotopic ossification, Inflammation Summary: Fibrodysplasia ossificans progressiva is a rare disease characterised by progressive heterotopic bone formation. Here, we present a comprehensive summary of the recent literature on this debilitating condition and discuss approaches to solving this clinical puzzle.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder that causes muscles, tendons, and other soft tissues to turn permanently into bone. Extra bone forms across joints making movement difficult and sometimes impossible. This process of ossification continues throughout a patient's life. FOP affects many areas of the body including, but not limited to, the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw. FOP is a progressive disease, which means it typically gets worse as the patient ages. The rate of new bone formation differs for each person, and the disease's progression is generally unpredictable.

FOP is known to affect about 2,500 people globally, across all ethnicities, ages, genders, and races. Because FOP is such a rare disease, experts believe that 80 percent or more of the cases are misdiagnosed and the number of people with FOP may actually be much higher. Experts in both pediatric and adult endocrinology, genetics, orthopedics, orthopedic surgery and rheumatology at UCSF Benioff Children's Hospitals are among the few in the country who readily diagnose and treat FOP. In addition, researchers at UCSF are studying how the disease progresses and working to identify new therapies. One of the nation's best for endocrinology & diabetes care 1520 Clay St, Ste H2, North Kansas City, MO 64116North Kansas City, Missouri, United States

The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a voluntary, non-profit organization that supports those afflicted by the rare genetic condition Fibrodysplasia Ossificans Progressiva and their families by instilling hope worldwide while searching for... Their mission is to eliminate FOP as a health concern through education, research, advocacy, and support. Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as... An official website of the United States government The .gov means it's official. Federal government websites often end in .gov or .mil.

Before sharing sensitive information, make sure you're on a federal government site. The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Adam MP, Bick S, Mirzaa GM, et al., editors.

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

People Also Search

By: Madaline Spencer| Published On: Jun 18, 2024 Michelle Davis,

By: Madaline Spencer| Published on: Jun 18, 2024 Michelle Davis, Executive Director of the International Fibrodysplasia Ossificans Progressiva Association (IFOPA), gives an overview of this rare disease as well as IFOPA’s advocacy work. FOP is a rare disorder in which skeletal muscle and connective tissue are gradually replaced by bone. This condition leads to bone formation outside of the skeleto...

Trauma, Such As A Fall Or Invasive Medical Procedure, Or

Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation. These flare ups last for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a genetic change at the same place in the ACVR1 gene. Current management of the disease relies mainly on symptom management. Ho...

Davis Describes The Importance Of Consistency In Advocacy Groups, Who

Davis describes the importance of consistency in advocacy groups, who are the voice for patients. The IFOPA also focuses on helping patients enroll in the four ongoing and fifth upcoming clinical trials for FOP. Author for correspondence (pingham@ntu.edu.sg) This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/...

Genetic Forms, By Contrast, Are Very Rare, But Provide Insights

Genetic forms, by contrast, are very rare, but provide insights into the mechanisms of HO pathobiology. Fibrodysplasia ossificans progressiva (FOP) is the most debilitating form of HO. All patients reported to date carry heterozygous gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1). These mutations cause dysregulated bone morphogenetic protein (BMP) signalling, lea...

A Potential Role Of Other Signalling Pathways That Could Influence

A potential role of other signalling pathways that could influence the dysregulated BMP signalling and present alternative therapeutic targets remains a matter of debate. Here, we review the recent FOP literature, including pathophysiology, clinical aspects, animal models and current management strategies. We also consider how this research can inform our understanding of other types of HO and hig...