Crandi

Self Reported Baseline Phenotypes From The International Fibrodysplasi

Leo Migdal
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self reported baseline phenotypes from the international fibrodysplasi

A global, patient-reported registry has been established to characterize the course of disease and track clinical outcomes in patients with fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic condition of progressive heterotopic ossification (HO) that... Here, we present baseline phenotypes on 299 patients (median age 21 years; range 0.1 to 78 years) from 54 countries based on aggregate data from the International FOP Association (IFOPA) Global Registry (the "FOP... The mean current age of the patients is 23.7 years (range, 0.1 to 78 years). Baseline characteristics are presented for FOP diagnosis, HO, flare-ups and precedent events, system-based prevalent symptomatology, encounters with medical and dental care providers, Patient Reported Outcomes Measurement Information System (PROMIS) Global Health Scale scores, physical... Correlations of PROMIS Global Health scores with HO burden and physical function are calculated. Associations of joint mobility with PROMIS Global Health scores, physical function, and use of aids, assistive devices, and adaptations are summarized.

Overall, the FOP Registry database contains a broad sample of the global FOP patient population, providing a useful tool for expanding knowledge of FOP, designing clinical trials and facilitating evidence-based decisions about the optimal... Keywords: Fibrodysplasia ossificans progressiva; Heterotopic ossification; Patient registry; Physical functioning; Quality of life. Copyright © 2020 Elsevier Inc. All rights reserved. This illustration was co-created with people living with FOP. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder, characterized by progressive, irreversible heterotopic ossification (HO) that restricts mobility.

IPSEN CARES® is a confidential, voluntary program that provides support for patients prescribed SOHONOS (palovarotene), as well as their families and caregivers. WARNING: EMBRYO-FETAL TOXICITY and PREMATURE EPIPHYSEAL CLOSURE IN GROWING PEDIATRIC PATIENTS SOHONOS is contraindicated in patients during pregnancy, or with a history of allergy or hypersensitivity to retinoids, or to any component of SOHONOS. Anaphylaxis and other allergic reactions have occurred with other retinoids. Academia.edu no longer supports Internet Explorer. To browse Academia.edu and the wider internet faster and more securely, please take a few seconds to upgrade your browser.

The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco. The correct author name has been included in the author list of this Correction article and is already updated in the original article. We report the first prospective, international, natural history study of the ultra-rare genetic disorder fibrodysplasia ossificans progressiva (FOP). FOP is characterized by painful, recurrent flare-ups, and disabling, cumulative heterotopic ossification (HO) in soft tissues. Methods: Individuals aged ≤65 years with classical FOP (ACVR1 R206H variant) were assessed at baseline and over 36 months.

Results: In total, 114 individuals participated; 33 completed the study (mean follow up: 26.8 months). Median age was 15.0 (range: 4-56) years; 54.4% were male. During the study, 82 (71.9%) individuals reported 229 flare-ups (upper back: 17.9%, hip: 14.8%, shoulder: 10.9%). After 84 days, 14 of 52 (26.9%) imaged flare-ups had new HO at the flare-up site (mean new HO volume: 28.8 × 10 3 mm 3). Mean baseline low-dose whole-body computed tomography (excluding head) HO volume was 314.4 × 10 3 mm 3 ; lowest at 2 to <8 years (68.8 × 10 3 mm 3) and increasing by age... The mean annualized volume of new HO was 23.6 × 10 3 mm 3 /year; highest at 8 to <15 and 15 to <25 years (21.9 × 10 3 and 41.5 × 10 3...

Conclusion: Results from individuals receiving standard care for up to 3 years in this natural history study show the debilitating effect and progressive nature of FOP cross-sectionally and longitudinally, with greatest progression during childhood... JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015

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A Global, Patient-reported Registry Has Been Established To Characterize The

A global, patient-reported registry has been established to characterize the course of disease and track clinical outcomes in patients with fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic condition of progressive heterotopic ossification (HO) that... Here, we present baseline phenotypes on 299 patients (median age 21 years; range 0.1 to 78 years) from 54 countries based on aggre...

Overall, The FOP Registry Database Contains A Broad Sample Of

Overall, the FOP Registry database contains a broad sample of the global FOP patient population, providing a useful tool for expanding knowledge of FOP, designing clinical trials and facilitating evidence-based decisions about the optimal... Keywords: Fibrodysplasia ossificans progressiva; Heterotopic ossification; Patient registry; Physical functioning; Quality of life. Copyright © 2020 Elsevier ...

IPSEN CARES® Is A Confidential, Voluntary Program That Provides Support

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The Original Version Of This Article [1] Unfortunately Included An

The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco. The correct author name has been included in the author list of this Correction article and is already updated in the original article. We report the first prospective, international, natural history study of the ultra-rare genetic disorder f...

Results: In Total, 114 Individuals Participated; 33 Completed The Study

Results: In total, 114 individuals participated; 33 completed the study (mean follow up: 26.8 months). Median age was 15.0 (range: 4-56) years; 54.4% were male. During the study, 82 (71.9%) individuals reported 229 flare-ups (upper back: 17.9%, hip: 14.8%, shoulder: 10.9%). After 84 days, 14 of 52 (26.9%) imaged flare-ups had new HO at the flare-up site (mean new HO volume: 28.8 × 10 3 mm 3). Mean...