ALLMedicine™ Achondroplasia Center
Research & Reviews 370 results
https://doi.org/10.1016/j.bone.2022.116472
Bone Stender M, Pimenta JM et. al.
Jun 22nd, 2022 - Achondroplasia (ACH) is a rare, genetic condition and is the most common skeletal dysplasia resulting in disproportionate short stature and numerous multi-systemic comorbidities. As we enter an era of new treatment options which may impact comorbi...
https://doi.org/10.1186/s13023-022-02374-x 10.1111/j.1399-0004.1977.tb01274.x 10.1136/jmg.16.2.140 10.1136/jmg.23.4.328 10.1002/ajmg.a.32485 10.1093/jb/mvq121 10.1097/GIM.0b013e3181daae9b 10.1002/mgg3.96 10.1074/jbc.M109.094086 10.1006/dbio.1993.1040 10.1093/hmg/8.1.35 10.1016/j.cellsig.2008.10.006 10.1016/j.bbamcr.2014.03.011 10.1016/j.bbadis.2014.12.020 10.1002/humu.21636 10.1002/ajmg.a.31919 10.1097/BRS.0b013e3181574286 10.1016/S0140-6736(07)61090-3 10.1136/adc.2010.189092 10.1002/ajmg.1320590412 10.1007/s12519-016-0051-9 10.1007/s11914-017-0347-2 10.1378/chest.97.4.877 10.1016/j.ijporl.2005.07.016 10.1186/s13023-020-01584-5 10.1186/s13023-021-01725-4 10.1002/ajmg.1320200219 10.1186/s13023-019-1247-6 10.1002/ajmg.a.40528 10.1097/DBP.0b013e3181c72052 10.1016/j.ymgme.2007.06.014 10.1056/NEJMoa1813446 10.1016/S0140-6736(20)31541-5 10.1007/s00392-016-1025-6 10.3390/ijerph15081644 10.1016/j.berh.2007.12.008 10.2105/AJPH.2003.025734 10.1016/j.ajhg.2011.12.017 10.1016/S0022-3476(85)80501-1 10.1136/jmg.35.9.705 10.1159/000439334 10.1097/HJH.0000000000002570 10.1186/s13023-019-1171-9
Orphanet Journal of Rare Diseases; Pesl M, Verescakova H et. al.
Jun 17th, 2022 - Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide ...
https://doi.org/10.1186/s13023-022-02372-z 10.1186/s13023-018-0972-6 10.1016/j.bone.2021.115872 10.1080/09638288.2021.1963853 10.1038/s41436-021-01165-2 10.1186/s13023-021-01971-6 10.1038/s41574-021-00595-x 10.1056/NEJMoa1813446 10.1016/S0140-6736(20)31541-5 10.1038/s41436-021-01287-7 10.1016/S1096-7192(21)00236-5 10.1177/00368504211003782 10.1016/j.ajhg.2012.10.014 10.1124/jpet.114.218560 10.1186/s13023-021-01792-7 10.1111/cge.13542 10.1007/s00223-019-00518-z 10.1002/ajmg.a.62018 10.1111/cge.12045 10.1016/S1096-7192(21)00179-7 10.1186/s13023-020-01397-6 10.1016/S1096-7192(21)00280-8 10.1136/archdischild-2020-319625 10.1038/s41436-018-0070-0 10.1002/ajmg.a.61825 10.1097/BPB.0000000000000428 10.3109/17453674.2012.678802 10.1002/ajmg.a.38130
Orphanet Journal of Rare Diseases; Savarirayan R, Baratela W et. al.
Jun 14th, 2022 - Achondroplasia is associated with disproportionate short stature and significant and potentially severe medical complications. Vosoritide is the first medicine to treat the underlying cause of achondroplasia and data from phase 3 and phase 2 exten...
https://doi.org/10.1111/jon.13015
Journal of Neuroimaging : Official Journal of the America... Calandrelli R, Pilato F et. al.
Jun 13th, 2022 - Whole-spine magnetic resonance imaging (MRI) studies, to identify structural abnormalities associated with the development of symptomatic spinal stenosis in achondroplasia. Forty-two subjects with achondroplasia were grouped into four age-related ...
https://doi.org/10.1007/s12325-022-02190-6
Advances in Therapy; McGraw SA, Henne JC et. al.
Jun 8th, 2022 - Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. As pharmacologic treatments cont...
Drugs 1 results see all →
Clinicaltrials.gov 30 results
https://clinicaltrials.gov/ct2/show/NCT04638153
May 23rd, 2022 - This is a phase 2 randomized, 3 arm (3 active doses of Recifercept), parallel group dose finding study of safety, tolerability, PK and efficacy The total number of participants is 63 in 2 age straified cohorts of 0-2 years and 6-10 years old. The ...
https://clinicaltrials.gov/ct2/show/NCT05353192
Apr 29th, 2022 - To Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children with Achondroplasia
https://clinicaltrials.gov/ct2/show/NCT05328050
Apr 28th, 2022 - This registry is a observational, single-center study designed to collect clinical data on patients with achondroplasia and hypochondroplasia.
https://clinicaltrials.gov/ct2/show/NCT03794609
Apr 18th, 2022 - This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Information collected will include in anthropometric characteristics, related symptoms, tests, & treatment...
https://clinicaltrials.gov/ct2/show/NCT04035811
Apr 8th, 2022 - This is a long-term, multi-center, observational study in children 2.5 to 10 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications and treatments of study participants. No study medication will be ...
News 19 results
https://www.medscape.com/viewarticle/972789
Apr 27th, 2022 - In 2021, the Food and Drug Administration approved 50 new drugs, but 24 will not be described here because they would probably not be used in pregnancy. The 24 are Aduhelm (aducanumab) to treat Alzheimer’s disease; Azstarys (serdexmethylphenidate ...
https://www.mdedge.com/obgyn/article/254158/obstetrics/review-new-drugs-may-be-used-during-pregnancy
Gerald G. Briggs, BPharm, FCCP
Apr 26th, 2022 - In 2021, the Food and Drug Administration approved 50 new drugs, but 24 will not be described here because they would probably not be used in pregnancy. The 24 are Aduhelm (aducanumab) to treat Alzheimer’s disease; Azstarys (serdexmethylphenidate.
https://www.medscape.com/viewarticle/963412
Nov 22nd, 2021 - The US Food and Drug Administration (FDA) has approved vosoritide (Voxzogo) daily injection for the treatment of children with achondroplasia, the most common form of human dwarfism. The indication is for children aged 5 years and older who have a...
https://www.medpagetoday.com/endocrinology/growthdisorders/95786
Nov 19th, 2021 - The FDA granted accelerated approval to the first drug to spur growth in kids with the most common form of dwarfism, the agency announced on Friday. Vosoritide (Voxzogo), a once-daily injectable treatment, is indicated for children 5 years and old...
https://www.medscape.com/viewarticle/957381
Aug 30th, 2021 - (Reuters) - U.S.-based Biomarin Pharmaceutical Inc said on Friday the European Commission cleared its treatment for one of the most common forms of dwarfism, the first such approval in the region for a therapy to treat achondroplasia. The approval...
