Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared...
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Autor*in:	Majid Alfadhel [verfasserIn] Marwan Nashabat [verfasserIn] Mohammed Saleh [verfasserIn] Mohammed Elamin [verfasserIn] Ahmed Alfares [verfasserIn] Ali Al Othaim [verfasserIn] Muhammad Umair [verfasserIn] Hind Ahmed [verfasserIn] Faroug Ababneh [verfasserIn] Fuad Al Mutairi [verfasserIn] Wafaa Eyaid [verfasserIn] Abdulrahman Alswaid [verfasserIn] Lina Alohali [verfasserIn] Eissa Faqeih [verfasserIn] Mohammed Almannai [verfasserIn] Majed Aljeraisy [verfasserIn] Bayan Albdah [verfasserIn] Mohamed A. Hussein [verfasserIn] Zuhair Rahbeeni [verfasserIn] Ali Alasmari [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia

Übergeordnetes Werk:	In: Orphanet Journal of Rare Diseases - BMC, 2006, 16(2021), 1, Seite 10
Übergeordnetes Werk:	volume:16 ; year:2021 ; number:1 ; pages:10

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s13023-021-02032-8

Katalog-ID:	DOAJ006000339

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520			\|a Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA.
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allfields	10.1186/s13023-021-02032-8 doi (DE-627)DOAJ006000339 (DE-599)DOAJ02b629d14359496d9729b89471e20a09 DE-627 ger DE-627 rakwb eng Majid Alfadhel verfasserin aut Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA. Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia Medicine R Marwan Nashabat verfasserin aut Mohammed Saleh verfasserin aut Mohammed Elamin verfasserin aut Ahmed Alfares verfasserin aut Ali Al Othaim verfasserin aut Muhammad Umair verfasserin aut Hind Ahmed verfasserin aut Faroug Ababneh verfasserin aut Fuad Al Mutairi verfasserin aut Wafaa Eyaid verfasserin aut Abdulrahman Alswaid verfasserin aut Lina Alohali verfasserin aut Eissa Faqeih verfasserin aut Mohammed Almannai verfasserin aut Majed Aljeraisy verfasserin aut Bayan Albdah verfasserin aut Mohamed A. Hussein verfasserin aut Zuhair Rahbeeni verfasserin aut Ali Alasmari verfasserin aut In Orphanet Journal of Rare Diseases BMC, 2006 16(2021), 1, Seite 10 (DE-627)50900637X (DE-600)2225857-7 17501172 nnns volume:16 year:2021 number:1 pages:10 https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/article/02b629d14359496d9729b89471e20a09 kostenfrei https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/toc/1750-1172 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2021 1 10
spelling	10.1186/s13023-021-02032-8 doi (DE-627)DOAJ006000339 (DE-599)DOAJ02b629d14359496d9729b89471e20a09 DE-627 ger DE-627 rakwb eng Majid Alfadhel verfasserin aut Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA. Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia Medicine R Marwan Nashabat verfasserin aut Mohammed Saleh verfasserin aut Mohammed Elamin verfasserin aut Ahmed Alfares verfasserin aut Ali Al Othaim verfasserin aut Muhammad Umair verfasserin aut Hind Ahmed verfasserin aut Faroug Ababneh verfasserin aut Fuad Al Mutairi verfasserin aut Wafaa Eyaid verfasserin aut Abdulrahman Alswaid verfasserin aut Lina Alohali verfasserin aut Eissa Faqeih verfasserin aut Mohammed Almannai verfasserin aut Majed Aljeraisy verfasserin aut Bayan Albdah verfasserin aut Mohamed A. Hussein verfasserin aut Zuhair Rahbeeni verfasserin aut Ali Alasmari verfasserin aut In Orphanet Journal of Rare Diseases BMC, 2006 16(2021), 1, Seite 10 (DE-627)50900637X (DE-600)2225857-7 17501172 nnns volume:16 year:2021 number:1 pages:10 https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/article/02b629d14359496d9729b89471e20a09 kostenfrei https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/toc/1750-1172 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2021 1 10
allfields_unstemmed	10.1186/s13023-021-02032-8 doi (DE-627)DOAJ006000339 (DE-599)DOAJ02b629d14359496d9729b89471e20a09 DE-627 ger DE-627 rakwb eng Majid Alfadhel verfasserin aut Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA. Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia Medicine R Marwan Nashabat verfasserin aut Mohammed Saleh verfasserin aut Mohammed Elamin verfasserin aut Ahmed Alfares verfasserin aut Ali Al Othaim verfasserin aut Muhammad Umair verfasserin aut Hind Ahmed verfasserin aut Faroug Ababneh verfasserin aut Fuad Al Mutairi verfasserin aut Wafaa Eyaid verfasserin aut Abdulrahman Alswaid verfasserin aut Lina Alohali verfasserin aut Eissa Faqeih verfasserin aut Mohammed Almannai verfasserin aut Majed Aljeraisy verfasserin aut Bayan Albdah verfasserin aut Mohamed A. Hussein verfasserin aut Zuhair Rahbeeni verfasserin aut Ali Alasmari verfasserin aut In Orphanet Journal of Rare Diseases BMC, 2006 16(2021), 1, Seite 10 (DE-627)50900637X (DE-600)2225857-7 17501172 nnns volume:16 year:2021 number:1 pages:10 https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/article/02b629d14359496d9729b89471e20a09 kostenfrei https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/toc/1750-1172 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2021 1 10
allfieldsGer	10.1186/s13023-021-02032-8 doi (DE-627)DOAJ006000339 (DE-599)DOAJ02b629d14359496d9729b89471e20a09 DE-627 ger DE-627 rakwb eng Majid Alfadhel verfasserin aut Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA. Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia Medicine R Marwan Nashabat verfasserin aut Mohammed Saleh verfasserin aut Mohammed Elamin verfasserin aut Ahmed Alfares verfasserin aut Ali Al Othaim verfasserin aut Muhammad Umair verfasserin aut Hind Ahmed verfasserin aut Faroug Ababneh verfasserin aut Fuad Al Mutairi verfasserin aut Wafaa Eyaid verfasserin aut Abdulrahman Alswaid verfasserin aut Lina Alohali verfasserin aut Eissa Faqeih verfasserin aut Mohammed Almannai verfasserin aut Majed Aljeraisy verfasserin aut Bayan Albdah verfasserin aut Mohamed A. Hussein verfasserin aut Zuhair Rahbeeni verfasserin aut Ali Alasmari verfasserin aut In Orphanet Journal of Rare Diseases BMC, 2006 16(2021), 1, Seite 10 (DE-627)50900637X (DE-600)2225857-7 17501172 nnns volume:16 year:2021 number:1 pages:10 https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/article/02b629d14359496d9729b89471e20a09 kostenfrei https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/toc/1750-1172 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2021 1 10
allfieldsSound	10.1186/s13023-021-02032-8 doi (DE-627)DOAJ006000339 (DE-599)DOAJ02b629d14359496d9729b89471e20a09 DE-627 ger DE-627 rakwb eng Majid Alfadhel verfasserin aut Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA. Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia Medicine R Marwan Nashabat verfasserin aut Mohammed Saleh verfasserin aut Mohammed Elamin verfasserin aut Ahmed Alfares verfasserin aut Ali Al Othaim verfasserin aut Muhammad Umair verfasserin aut Hind Ahmed verfasserin aut Faroug Ababneh verfasserin aut Fuad Al Mutairi verfasserin aut Wafaa Eyaid verfasserin aut Abdulrahman Alswaid verfasserin aut Lina Alohali verfasserin aut Eissa Faqeih verfasserin aut Mohammed Almannai verfasserin aut Majed Aljeraisy verfasserin aut Bayan Albdah verfasserin aut Mohamed A. Hussein verfasserin aut Zuhair Rahbeeni verfasserin aut Ali Alasmari verfasserin aut In Orphanet Journal of Rare Diseases BMC, 2006 16(2021), 1, Seite 10 (DE-627)50900637X (DE-600)2225857-7 17501172 nnns volume:16 year:2021 number:1 pages:10 https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/article/02b629d14359496d9729b89471e20a09 kostenfrei https://doi.org/10.1186/s13023-021-02032-8 kostenfrei https://doaj.org/toc/1750-1172 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2021 1 10
language	English
source	In Orphanet Journal of Rare Diseases 16(2021), 1, Seite 10 volume:16 year:2021 number:1 pages:10
sourceStr	In Orphanet Journal of Rare Diseases 16(2021), 1, Seite 10 volume:16 year:2021 number:1 pages:10
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia Medicine R
isfreeaccess_bool	true
container_title	Orphanet Journal of Rare Diseases
authorswithroles_txt_mv	Majid Alfadhel @@aut@@ Marwan Nashabat @@aut@@ Mohammed Saleh @@aut@@ Mohammed Elamin @@aut@@ Ahmed Alfares @@aut@@ Ali Al Othaim @@aut@@ Muhammad Umair @@aut@@ Hind Ahmed @@aut@@ Faroug Ababneh @@aut@@ Fuad Al Mutairi @@aut@@ Wafaa Eyaid @@aut@@ Abdulrahman Alswaid @@aut@@ Lina Alohali @@aut@@ Eissa Faqeih @@aut@@ Mohammed Almannai @@aut@@ Majed Aljeraisy @@aut@@ Bayan Albdah @@aut@@ Mohamed A. Hussein @@aut@@ Zuhair Rahbeeni @@aut@@ Ali Alasmari @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	50900637X
id	DOAJ006000339
language_de	englisch
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author	Majid Alfadhel
spellingShingle	Majid Alfadhel misc Carglumic acid misc Hyperammonemia misc Methylmalonic academia misc Organic academia misc Propionic acidemia misc Medicine misc R Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
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topic_title	Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial Carglumic acid Hyperammonemia Methylmalonic academia Organic academia Propionic acidemia
topic	misc Carglumic acid misc Hyperammonemia misc Methylmalonic academia misc Organic academia misc Propionic acidemia misc Medicine misc R
topic_unstemmed	misc Carglumic acid misc Hyperammonemia misc Methylmalonic academia misc Organic academia misc Propionic acidemia misc Medicine misc R
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title	Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
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title_full	Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
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author_browse	Majid Alfadhel Marwan Nashabat Mohammed Saleh Mohammed Elamin Ahmed Alfares Ali Al Othaim Muhammad Umair Hind Ahmed Faroug Ababneh Fuad Al Mutairi Wafaa Eyaid Abdulrahman Alswaid Lina Alohali Eissa Faqeih Mohammed Almannai Majed Aljeraisy Bayan Albdah Mohamed A. Hussein Zuhair Rahbeeni Ali Alasmari
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title_sort	long-term effectiveness of carglumic acid in patients with propionic acidemia (pa) and methylmalonic acidemia (mma): a randomized clinical trial
title_auth	Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
abstract	Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA.
abstractGer	Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA.
abstract_unstemmed	Abstract Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the administration of carglumic acid with the standard treatment compared to the standard treatment alone in the management of these organic acidemias. Methods The study was a prospective, multicenter, randomized, parallel-group, open-label, controlled clinical trial. Patients aged ≤ 15 years with confirmed PA and MMA were included in the study. Patients were followed up for two years. The primary outcome was the number of emergency room (ER) admissions because of hyperammonemia. Secondary outcomes included plasma ammonia levels over time, time to the first episode of hyperammonemia, biomarkers, and differences in the duration of hospital stay. Results Thirty-eight patients were included in the study. On the primary efficacy endpoint, a mean of 6.31 ER admissions was observed for the carglumic acid arm, compared with 12.76 for standard treatment, with a significant difference between the groups (p = 0.0095). Of the secondary outcomes, the only significant differences were in glycine and free carnitine levels. Conclusion Using carglumic acid in addition to standard treatment over the long term significantly reduces the number of ER admissions because of hyperammonemia in patients with PA and MMA.
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title_short	Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
url	https://doi.org/10.1186/s13023-021-02032-8 https://doaj.org/article/02b629d14359496d9729b89471e20a09 https://doaj.org/toc/1750-1172
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author2	Marwan Nashabat Mohammed Saleh Mohammed Elamin Ahmed Alfares Ali Al Othaim Muhammad Umair Hind Ahmed Faroug Ababneh Fuad Al Mutairi Wafaa Eyaid Abdulrahman Alswaid Lina Alohali Eissa Faqeih Mohammed Almannai Majed Aljeraisy Bayan Albdah Mohamed A. Hussein Zuhair Rahbeeni Ali Alasmari
author2Str	Marwan Nashabat Mohammed Saleh Mohammed Elamin Ahmed Alfares Ali Al Othaim Muhammad Umair Hind Ahmed Faroug Ababneh Fuad Al Mutairi Wafaa Eyaid Abdulrahman Alswaid Lina Alohali Eissa Faqeih Mohammed Almannai Majed Aljeraisy Bayan Albdah Mohamed A. Hussein Zuhair Rahbeeni Ali Alasmari
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up_date	2024-07-03T18:23:33.154Z
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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

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