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About 375 results

ALLMedicine™ Methylmalonic Acidemia Center

Research & Reviews  146 results

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

May 13th, 2022 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer ...

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04732429

May 11th, 2022 - This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA). The study consists of 3 parts: Part A: Open-label, within-subject, dose esca...

Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendatio...
https://doi.org/10.1007/s11011-022-00954-1 10.1186/s13023-019-1063-z 10.1111/jnc.13544 10.1007/BF00711749 10.1186/s13023-014-0130-8 10.1016/j.acn.2004.12.003 10.1186/s11689-017-9193-x.PMID:28616097;PMCID:PMC5467057 10.1111/jnc.13579 10.1067/mpd.2002.121698 10.1016/j.ymgmr.2018.03.011 10.2215/CJN.09650917 10.1111/j.1399-3046.2009.01227.x 10.1186/s13023-019-1045-1 10.1056/NEJMoa072200 10.1016/j.ymgme.2009.03.006 10.3390/ijms21144998 10.1080/87565640802101482 10.1080/13803390500205718 10.1352/1944-7558-125.6.475 10.1038/gim.2012.76 10.1212/WNL.0b013e3182872e5f 10.1016/j.pedneo.2019.07.004 10.1080/13854046.2018.1552762 10.1203/PDR.0b013e3180a0325f 10.1002/jimd.12183 10.1016/j.ymgme.2006.04.003 10.1007/89042015480 10.1002/ajmg.a.37127 10.1007/s10545-013-9600-8 10.1056/NEJM198410183111604 10.1007/BF00710054 10.1001/jamanetworkopen.2019.21306 10.1159/000456710 10.1056/NEJM198304143081501 10.1037/a0015857 10.1002/jmd2.12088 10.1007/s10863-011-9330-2 10.1111/j.1600-6143.2007.01986.x 10.3389/fnagi.2017.00437 10.1136/adc.78.6.508 10.1016/j.jpeds.2015.01.051 10.1186/1750-1172-8-148 10.1007/s00431-002-0970-4 10.1542/peds.2011-1715 10.1186/s13023-018-0953-9 10.1016/j.jpeds.2011.06.005 10.3390/ijms21239137 10.1080/10543406.2018.1489402 10.1111/petr.12804 10.1002/ajmg.1320450521 10.1016/j.jpeds.2015.03.026 10.1080/13803395.2013.771618 10.1016/S0022-3476(99)70280-5 10.1542/peds.2015-0175 10.1007/s10897-015-9921-x 10.1186/s13023-021-01805-5 10.1044/1092-4388(2009/07-0144) 10.1080/13803395.2011.623121 10.1016/s0022-3476(05)82005-0 10.1002/(SICI)1096-8628(20000403)96:2<192::AID-AJMG14>3.0.CO;2-J 10.1002/ajmg.c.30288 10.1001/jama.2019.18496 10.1038/s41598-020-70113-y 10.1007/8904_2016_545 10.1038/s41598-020-69565-z 10.5582/irdr.2018.01026
Metabolic Brain Disease; Waisbren SE

Mar 30th, 2022 - Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychologic...

Application of a next-generation sequencing (NGS) panel in newborn screening efficientl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862216
Orphanet Journal of Rare Diseases; Huang X, Wu D et. al.

Feb 24th, 2022 - Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. ...

Biomarkers for drug development in propionic and methylmalonic acidemias.
https://doi.org/10.1002/jimd.12478
Journal of Inherited Metabolic Disease; Longo N, Sass JO et. al.

Jan 18th, 2022 - There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of ...

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Drugs  1 results see all →

Clinicaltrials.gov  2 results

Clinical and Laboratory Study of Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT00078078

May 13th, 2022 - Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer ...

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
https://clinicaltrials.gov/ct2/show/NCT04732429

May 11th, 2022 - This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA). The study consists of 3 parts: Part A: Open-label, within-subject, dose esca...

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News  1 results

Table of Surrogate Endpoints That Were the Basis of Drug Approval or Licensure
http://www.fda.gov/drugs/development-resources/table-surrogate-endpoints-were-basis-drug-approval-or-licensure

What is the purpose of the Surrogate Endpoint Table? FDA’s surrogate endpoint table provides valuable information for drug developers on endpoints that may be considered and discussed with FDA for individual development programs. This table also f...

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