![]()
|
![]()
|
27/04/2018
This paper systematically lists and explains the therapeutic advances being made for CDG. Some therapies are already available, while other are still in early development stages. Nevertheless, many exciting advances have been made in the field of CDG treatments.
You can find the abstract HERE and order the complete article HERE. |
29/11/2018
Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and necessary tools, namely in clinical trials. PROMs are instruments that capture directly the patient experience with their disease. One of the aspects most commonly assessed by PROMs is health-related quality of life (HrQoL).
Inherited Metabolic Diseases (IMDs) - among which CDG are included - are a group of disorders that range from mild to severe clinical presentations, but most lacking effective therapies. This work focuses on the existing PROMs tools to measure HrQoL among this patient population. You can find the abstract HERE and order the complete article HERE. |
09/11/2018
This paper acts as a diagnosis roadmap for clinicians and intendeds to help guide them throughout the process of a CDG diagnosis - from suspicion to genetic confirmation.
It also includes n updated list of all CDG types identified to date. Finally, this short review can also be used as a lobbying and awareness tool. You can find the abstract HERE and order the complete article HERE. |
01/02/2018
This systematic review of the literature identifies CDG subtypes, caused by defects in the O-glycosylation mechanism subtypes, with eye involvement.
We identified eye problem in 15 CDG subtypes, which means that over 60% of all O-glycosylation CDG have vision affectation. We also discuss and describe potential causative molecular mechanisms and present exisitng animal models, as well as explore possible therapeutic avenues. We believe this work can improve diagnosis,care and management of eye impairment in CDG patients, while also guiding research and promoting theray development. You can find the abstract HERE and order the complete article HERE. |
29/09/2017
This qualitative study was based on the think thank methodology applied to the CDG Community. It counted with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. Participants were asked to identify their needs and suggest social measures that could result in a better and patient-centred approach to care and research. Suggested. social innovations included peer-support communities, web-based information resources and a CDG expertise platform.
|
19/07/2017
This literature review summarizes cardiac involvement, reported in 20% of CDG.
CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways. The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. You can find the abstract HERE and order the complete article HERE. |
26/07/2018
This paper focuses on the application of an online patient-centered questionnaire to evalute liver involvement in CDG patients. A total of 155 questionnaires were completed. Impressively, the results obtained from this approach match those acquired through a thorough revision f the literature on this topic.
This innovative research strategy outcomes many of the limitations related to rare disease research, accelerates the research projects while empowering patients and families and reinforcing the link between families and professionals. You can find the abstract HERE and order the complete article HERE. 20/01/2017
Liver is among the affected organs in CDG Patients. In this review, CDG are divided into major and minor categories in terms of severity and frequency of liver disease.
CDG with major liver involvement: MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG CDG with minor liver involvement: PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. You can find the abstract HERE and order the complete article HERE. |
DIAGNOSTICS
|
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
July 2018 This basic research article sheds some light on the difficulty of establishing relationships between mutation type and the symptoms presented by PMM2-CDG patients. Authors have found that PMM2 gene has a higher frequency of mutations among the general population and that mutations affecting other genes responsible for CDG type I might influence the symptoms presented by PMM2-CDG patients. You can find the abstract HERE and access the complete article HERE. A Patient Friendly Abstract is available HERE. |
THERAPEUTIC APPROCHES
|
November 2017
This is a short review on nutritional approaches to treat CDG. For instance, MPI-CDG was the first tretable CDG by mannose (a specific sugar) administration. There are currently, various types of CDG and sugars under clinical trials. And, actually, for another type of CDG called PGM1-CDG, galactose administration has been showing some very promising results.
You can find the abstract HERE and order the complete article HERE. |
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
September 2017
In this study, 20 PMM2-CDG between the ages of 5-18 years-old participated .
The aim of the study was to better understand the progression of cerebellar problems in these patients as well as to correlate the findings to the patients' health. For that purpose, patients were submitted to sequential assessments by application of the International Cooperative Ataxia Rating Scale (ICARS). Two measurements were performed during a 20 month period. Patients were found to have progessive loss of cerebellum mass (cerebellar atrophy), althghout that loss of volume was not related to decreased cerebellar function, as patients generally exhibited stabilization or mild improvement in the cerebellar syndrome. The authors of the study point out the need to have more validated tools, such as ICARS, to ensure sensitive and effective follow-up of PMM2-CDG patients, including in the context of therapy assessment. You can find the abstract HERE and order the complete article HERE. |
GASTROENTEROLOGY
|
2016
Four CDG patients were identified with different mutations in TMEM199, a protein involved in Golgi homeostasis. Patients presented N- and O- glycosylation defects with a mild phenotype of hepatic steatosis, elevated aminotransferases and alkaline phosphatase, hypercholesterolemia, as well as low serum ceruloplasmin. TMEM199 deficiency results in a hepatic phenotype with abnormal glycosylation.
You can find the abstract HERE and order the complete article HERE. |
2016
This article reports a heart transplant performed on a DOLK-CDG patient presenting dilated cardiomyopathy with markedly reduced myocardial contractility.
On an early follow-up the boy had developed insulin-dependent diabetes mellitus. Two and a half years after his heart transplant, the boy continues to show a good psychological and physical development with excellent quality of life. You can find the abstract HERE and order the complete article HERE. |
2016
|
August 2016
Case report of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement. We compare that to 13 affected individuals from the literature including five adults allowing us to delineate the features that may develop over time with this disorder including kyphosis, retinitis pigmentosa, and cataracts.
You can find the abstract HERE and order the complete article HERE. |
Newsletter
|
|