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更新于：2025-01-23

Dimethylglycine Dehydrogenase Deficiency

二甲基甘氨酸脱氢酶缺乏症

更新于：2025-01-23

基本信息

别名

DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY、DMG dehydrogenase deficiency、DMGDH DEFICIENCY

+ [8]

简介

An extremely rare autosomal recessive glycine metabolism disorder characterised clinically in the single reported case to date by muscle fatigue and a fish-like odour.

关联

项与二甲基甘氨酸脱氢酶缺乏症相关的药物

rHSC-DIPGVax(Dana-Farber Cancer Institute)

靶点

HSP

作用机制

HSP刺激剂

在研机构

Dana-Farber Cancer Institute, Inc. [+2]

原研机构

Dana-Farber Cancer Institute, Inc.

在研适应症

弥漫内生性脑桥神经胶质瘤 [+2]

非在研适应症-

最高研发阶段临床1期

首次获批国家/地区-

首次获批日期1800-01-20

项与二甲基甘氨酸脱氢酶缺乏症相关的临床试验

NCT06140719

/ RecruitingN/A

A Retrospective and Prospective Observational Sub-Study for Diffuse Midline Glioma and Diffuse Intrinsic Pontine Glioma

This study will gather data from new and existing patients with patient medical records, and patient/family/caregiver reported information to establish a clear natural history of disease suitable to serve as an external, contemporary or historical control arm for future therapeutic development programs of drugs, devices, or biologic interventions in DMG or DIPG.

开始日期2023-11-01

申办/合作机构

xCures, Inc.初创企业

NCT04943848

/ Recruiting临床1期IIT

A Phase I Clinical Trial of Neo-antigen Heat Shock Protein Vaccine (rHSC-DIPGVax) in Combination With Checkpoint Blockade for the Treatment of Diffuse Intrinsic Pontine Glioma (DIPG) and Diffuse Midline Glioma in Childhood

This is a phase I, open label, plus expansion clinical trial evaluating the safety and tolerability of rHSC-DIPGVax in combination with BALSTILIMAB and ZALIFRELIMAB. rHSC-DIPGVax is an off-the-shelf neo-antigen heat shock protein containing 16 peptides reflecting neo-epitopes found in the majority of DIPG and DMG tumors. Newly diagnosed patients with DIPG and DMG who have completed radiation six to ten weeks prior to enrollment are eligible.

开始日期2022-01-10

申办/合作机构

Ann & Robert H. Lurie Children's Hospital of Chicago

[+3]

NCT05077735

/ Recruiting临床2期IIT

Stereotactic Biopsy Split-Course Radiation Therapy - Diffuse Midline Glioma (SPORT-DMG)

This phase II trial studies the clinical outcomes of hypofractionated radiation therapy in patients with diffuse midline gliomas. This study aims to change the way radiation is delivered, from giving 6 weeks of radiation all at once to giving 2 weeks of radiation. This may determine if there is a difference in the outcome of the treatment, and most importantly, the patients' quality of life.

开始日期2021-10-11

申办/合作机构

Mayo Clinic

100 项与二甲基甘氨酸脱氢酶缺乏症相关的临床结果

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100 项与二甲基甘氨酸脱氢酶缺乏症相关的转化医学

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0 项与二甲基甘氨酸脱氢酶缺乏症相关的专利（医药）

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135

项与二甲基甘氨酸脱氢酶缺乏症相关的文献（医药）

2025-01-16·Nature

Intravenous and intracranial GD2-CAR T cells for H3K27M+ diffuse midline gliomas

Article

作者: Petersen, Ann-Louise G. ; McIntyre, Catherine ; Klysz, Dorota Danuta ; Barsan, Valentin ; Grant, Gerald ; Feldman, Steven A ; Beebe, Barbara ; Petersen, Ann-Louise G ; Egeler, Emily ; Ramakrishna, Sneha ; Siddiqui, Aman ; Erickson, Courtney ; Fisher, Paul G ; Lepori-Bui, Nadia ; Baggott, Christina ; Duh, Allison K ; Fowler, Carley ; Sahaf, Bita ; Rietberg, Skyler P. ; Song, Kun-Wei ; Rietberg, Skyler P ; Majzner, Robbie ; Fujimoto, Michelle ; Bove, Rachel ; Mahdi, Jasia ; Feldman, Steven A. ; Richards, Rebecca M. ; Kamens, Jen ; Yeom, Kristen W. ; Villar, Katlin ; Duh, Allison K. ; Campen, Cynthia J ; Richards, Rebecca M ; Mavroukakis, Sharon ; Campen, Cynthia J. ; Kuo, Adam ; Ye, Xiaobu ; Cornell, Timothy T. ; Carr, Casey ; Pham, Kymhuynh ; Yeom, Kristen W ; Cornell, Timothy T ; Kunicki, Michael ; Reynolds, Warren D. ; Schultz, Liora M. ; Rasmussen, Lindsey ; Musa, Eric ; Patel, Shabnum ; Davis, Kara L. ; Partap, Sonia ; Schultz, Liora M ; Fisher, Paul G. ; Davis, Kara L ; Reschke, Agnes ; Lim, Alexandria Sung ; Tunuguntla, Ramya ; Jacobs, Ashley ; Prolo, Laura ; Reynolds, Warren D ; Moon, Jennifer ; Prabhu, Snehit ; Mackall, Crystal ; Monje, Michelle ; Brown, Annie Kathleen ; Chinnasamy, Harshini ; Green, Sean

H3K27M-mutant diffuse midline gliomas (DMGs) express high levels of the disialoganglioside GD2 (ref. ¹). Chimeric antigen receptor-modified T cells targeting GD2 (GD2-CART) eradicated DMGs in preclinical models¹. Arm A of Phase I trial no. NCT04196413 (ref. ²) administered one intravenous (IV) dose of autologous GD2-CART to patients with H3K27M-mutant pontine (DIPG) or spinal DMG (sDMG) at two dose levels (DL1, 1 × 10⁶ kg^-¹; DL2, 3 × 10⁶ kg^-1) following lymphodepleting chemotherapy. Patients with clinical or imaging benefit were eligible for subsequent intracerebroventricular (ICV) intracranial infusions (10-30 × 10⁶ GD2-CART). Primary objectives were manufacturing feasibility, tolerability and the identification of maximally tolerated IV dose. Secondary objectives included preliminary assessments of benefit. Thirteen patients enroled, with 11 receiving IV GD2-CART on study (n = 3 DL1 (3 DIPG); n = 8 DL2 (6 DIPG, 2 sDMG)). GD2-CART manufacture was successful for all patients. No dose-limiting toxicities occurred on DL1, but three patients experienced dose-limiting cytokine release syndrome on DL2, establishing DL1 as the maximally tolerated IV dose. Nine patients received ICV infusions, with no dose-limiting toxicities. All patients exhibited tumour inflammation-associated neurotoxicity, safely managed with intensive monitoring and care. Four patients demonstrated major volumetric tumour reductions (52, 54, 91 and 100%), with a further three patients exhibiting smaller reductions. One patient exhibited a complete response ongoing for over 30 months since enrolment. Nine patients demonstrated neurological benefit, as measured by a protocol-directed clinical improvement score. Sequential IV, followed by ICV GD2-CART, induced tumour regressions and neurological improvements in patients with DIPG and those with sDMG.

2024-12-01·Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica

[Heart failure: innovative understanding from traditional Chinese medicine (TCM) and treatment with classic TCM formulas].

Review

作者: Wang, Peng-Qian ; Luo, Fu-Kun ; Lan, Yu ; Yu, Yue ; Xiong, Xing-Jiang ; Wang, Xiao-Ya

The prevalence of cardiovascular diseases in China has shown a rising trend. With the patient number of about 8.9 million, heart failure has brought a heavy burden to public health and wellness. Despite the modern medical research progress in the pathogenesis and clinical treatment of heart failure, the patients with heart failure still suffer from recurrent episodes of dyspnea(requiring repeated hospital admissions), diuretic resistance, elevated creatinine levels due to prolonged diuretic use, and poor prognosis, among other major clinical and scientific issues. In traditional Chinese medicine(TCM), heart failure belongs to the category of "heart water". The research team has found that because of the changes in the modern disease spectrum, the differences between ancient and modern physical constitutions, and the use of anti-heart failure drugs in modern medicine, the pathological process of heart failure has been altered, and the symptoms of some patients have become unobvious. As a result, the etiology and pathogenesis of heart failure have undergone major changes. The disease causes include external pathogen attack, emotional disorders, excessive labor injury, medication-induced damage, dietary disorders, water-dampness stagnation, and endowment insufficiency. These causes are closely related to the infection aggravation-induced heart failure, cardiac and psychological diseases, and heart volume overload in modern medicine. The pathogeneses of heart failure include edema due to Yang deficiency and water retention turning into heat in the acute stage and liver depression and Qi stagnation, heart Qi deficiency, kidney Yang deficiency, Qi deficiency in lung and spleen, phlegm and water retention, and internal obstruction due to blood stasis in the remission stage. The corresponding treatment strategies were recommended as follows: Zhenwu Decoction for edema due to Yang deficiency, Mufangji Decoction for water retention turning into heat, Chaihu Longgu Muli Decoction for liver depression and Qi stagnation, Guizhi Decoction for heart Qi insufficiency, Shenqi Pills and Yougui Pills for kidney Yang deficiency, Yupingfeng Powder, Lizhong Decoction, Buzhong Yiqi Decoction, and Guipi Decoction for Qi deficiency in lung and spleen, Fangji Huangqi Decoction, Wuling Powder, Linggui Zhugan Decoction, and Tingli Dazao Xiefei Decoction for internal obstruction due to phlegm and water retention, Guizhi Fuling Pills and Danggui Shaoyao Powder for internal obstruction due to blood stasis. The clinical treatment should follow the principle of considering both pathogenesis and pathology as well as both medicine nature and mechanism. The TCM concept of secondary prevention with TCM formulas for replenishing deficiency should be adopted. The treatment based on the principle and concept above will improve the patients' quality of life, reduce the number of hospital admissions, ameliorate diuretic resistance, and improve the clinical outcomes.

2024-09-20·Biomedical and environmental sciences : BES

DNA Methylation of KLRC1 and KLRC3 in Autoimmune Thyroiditis: Perspective of Different Water Iodine Exposure.

Article

作者: Zhou, Zheng ; Zhang, Li ; Liu, Jin Jin ; Wu, Huai Yong ; Liu, Li Xiang ; Shen, Hong Mei ; Chen, Yao ; Ren, Bing Xuan ; Qu, Meng Ying

ObjectiveThis study aimed to identify differentially methylated genes (DMGs) associated with natural killer cells in patients with autoimmune thyroiditis (AIT), focusing on the influence of varying water iodine exposure levels.MethodsParticipants were divided into categories based on median water iodine (MWI) concentrations: iodine-fortified areas (IFA, MWI < 10 µg/L), iodine-adequate areas (IAA, 40 ≤ MWI ≤ 100 µg/L), and iodine-excessive areas (IEA, MWI > 300 µg/L). A total of 176 matched AIT cases and controls were recruited and divided into 89, 40, and 47 pairs for IFA, IAA, and IEA, respectively. DMGs were identified using 850K BeadChip analysis for 10/10 paired samples. Validation of DNA methylation and mRNA expression levels of the DMGs was conducted using MethylTarget™ and QRT-PCR for 176/176 paired samples.ResultsKLRC1, KLRC3, and SH2D1B were identified as significant DMGs. Validation revealed that KLRC1 was hypomethylated and highly expressed, whereas KLRC3 was hypermethylated and highly expressed in individuals with AIT. Furthermore, KLRC1 was hypomethylated and highly expressed in both IFA and IEA.ConclusionThe DNA methylation status of KLRC1 and KLRC3 may play crucial roles in AIT pathogenesis. Additionally, DNA methylation of KLRC1seems to be influenced by different iodine concentrations in water.

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