المصدر: A Natural History Study of Patients With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
Albright RA, Stabach P, Cao W, Kavanagh D, Mullen I, Braddock AA, Covo MS, Tehan M, Yang G, Cheng Z, Bouchard K, Yu ZX, Thorn S, Wang X, Folta-Stogniew EJ, Negrete A, Sinusas AJ, Shiloach J, Zubal G, Madri JA, De La Cruz EM, Braddock DT. ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. Nat Commun. 2015 Dec 1;6:10006. doi: 10.1038/ncomms10006.
Ziegler SG, Gahl WA, Ferreira CR. Generalized Arterial Calcification of Infancy. 2014 Nov 13 [updated 2020 Dec 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK253403/
Rutsch F, Boyer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nurnberg P, Terkeltaub R; GACI Study Group. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet. 2008 Dec;1(2):133-40. doi: 10.1161/CIRCGENETICS.108.797704.

المؤلفون: Kyowa Kirin Co., Ltd.

المصدر: X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP)

المصدر: The ENABLE Study: An Open-Label, Long-Term Safety and Efficacy Study of INZ-701 in Patients With Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficiency

المساهمون: Thomas Thacher, Principal Investigator

المصدر: Ultrasound Imaging and Quantitative Vibro-acoustic Assessment of Rickets in Children

المصدر: A Multicenter, Open-label, Phase 1/2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients With X-linked Hypophosphatemia

المصدر: The ADAPT Study: An Open-label, Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency

المصدر: A Prospective Observational Study to Evaluate Disease Presentation and Progression in Subjects With ENPP1 Deficiency and the Early-Onset Form of ABCC6 Deficiency

المؤلفون: Lautatzis, Maria-Elena^1,2 mlautatzis2@hsc.mb.ca, Keya, Farhana K.³, Al Mahmud, Abdullah⁴, Tariq, Ulaina², Lam, Carol¹, Morris, Shaun K.^1,2, Stimec, Jennifer¹, Zlotkin, Stanley^1,2, Ahmed, Tahmeed⁵, Harrington, Jennifer^6,7, Roth, Daniel E.^1,2

المصدر: Pediatrics. Jun2024, Vol. 153 Issue 6, p1-8. 12p.

مصطلحات موضوعية: *RICKETS prevention, *SECONDARY analysis, *RESEARCH funding, *THIRD trimester of pregnancy, *PUERPERIUM, *DESCRIPTIVE statistics, *RELATIVE medical risk, *DOSE-effect relationship in pharmacology, *DRUG efficacy, *CONFIDENCE intervals, *VITAMIN D, *DIETARY supplements, *EVALUATION, *CHILDREN

مصطلحات جغرافية: BANGLADESH

المصدر: A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients From Birth to Less Than 1 Year of Age With X-linked Hypophosphatemia (XLH)

المؤلفون: Kyowa Kirin Co., Ltd.

المؤلفون: Iqvia Pty Ltd

المصدر: An International, Multicentre, Prospective, Non-interventional Observational Registry for Patients With X-Linked Hypophosphatemia (XLH)
Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022.

المصدر: An Observational, Prospective, European, Multicentre, Mixed Methods Study to Describe the Lived Experience of X-Linked Hypophosphatemia (XLH) for Adolescents at End of Skeletal Growth

المصدر: An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia
Kubota T, Fukumoto S, Cheong HI, Michigami T, Namba N, Ito N, Tokunaga S, Gibbs Y, Ozono K. Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study. BMJ Open. 2020 Jun 29;10(6):e036367. doi: 10.1136/bmjopen-2019-036367.

المصدر: The ENERGY 3 Study: A Randomized, Controlled, Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of INZ-701 in Children With Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency

المصدر: The ENERGY Study: An Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 in Infants With Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficiency or ATP-binding Cassette Sub-family C Member 6 (ABCC6) Deficiency

المؤلفون: Hamid, Ihab Abd El¹, Ibrahim Khalil, Mohamed Ahmed¹, El Sayed Mohamed, Nessma Ameen¹ drnessmaamen@gmail.com, El-halem, Noha Abd²

المصدر: Zagazig University Medical Journal. May/Jun2024, Vol. 30 Issue 3, p652-660. 9p.

مصطلحات موضوعية: *FIBROBLAST growth factors, *RICKETS, *VITAMIN D deficiency, *LOGISTIC regression analysis, *ALKALINE phosphatase

المؤلفون: Menon, Jayakrishnan C¹ (AUTHOR), Kumari, Archana¹ (AUTHOR), Sajjan, Shruti M¹ (AUTHOR), Dabadghao, Preeti¹ (AUTHOR) preetid@sgpgi.ac.in

المصدر: JCEM Case Reports. Mar2024, Vol. 2 Issue 3, p1-5. 5p.

مصطلحات موضوعية: *RICKETS, *HYPOPARATHYROIDISM, *CHOLECALCIFEROL, *VITAMIN D, *VITAMINS, *ALKALINE phosphatase

مصطلحات جغرافية: ASIA

المصدر: A Phase 1/2, Open-Label, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 Followed by an Open-Label Long-Term Extension Period in Adults With ENPP1 Deficiency

المصدر: Post Marketing Surveillance Study to Observe Safety and Effectiveness of CRYSVITA® in S. Korean Patients

المؤلفون: University of North Carolina, Chapel Hill, The John Merck Fund, Duke University, Wake Forest University, North Carolina Department of Health and Human Services, National Center for Advancing Translational Sciences (NCATS), Cure SMA, The National Fragile X Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Asuragen, Inc., Sarepta Therapeutics, Inc., Muscular Dystrophy Association, The Leona M. and Harry B. Helmsley Charitable Trust, Juvenile Diabetes Research Foundation, Janssen Pharmaceuticals, GeneDx, Illumina, Inc.

المصدر: Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
Finkel, Mercuri, Darras, Kuntz, Kirschner et al, 2017
Birnkrant, et al, 2018
Winarni, Schneider, Borodyanskara, & Hagerman, 2012
Bailey, Raspa, Bishop & Holiday, 2009
Gehtland LM, Paquin RS, Andrews SM, Lee AM, Gwaltney A, Duparc M, Pfaff ER, Bailey DB Jr. Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study. JMIR Pediatr Parent. 2022 Feb 10;5(1):e30941. doi: 10.2196/30941.
Bailey DB Jr, Gehtland LM, Lewis MA, Peay H, Raspa M, Shone SM, Taylor JL, Wheeler AC, Cotten M, King NMP, Powell CM, Biesecker B, Bishop CE, Boyea BL, Duparc M, Harper BA, Kemper AR, Lee SN, Moultrie R, Okoniewski KC, Paquin RS, Pettit D, Porter KA, Zimmerman SJ. Early Check: translational science at the intersection of public health and newborn screening. BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4.