​Lisbon, 21th June 2016 – The Portuguese Association for CDG (APCDG, http://www.apcdg.com) today announced her collaboration with Anaxomics Biotech, a company committed to the discovery and development of new and better drugs to improve human health. This strategic partnership occurs under the scope of the CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN).
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Congenital Disorders of Glycosylation (CDG) are one of the fastest growing groups among the more than 8000 monogenetic diseases currently known. As for the majority of rare genetic disorders, no effective treatment is known for CDG, and only three CDG types have a therapy.

Anaxomics Biotech is a leading company that exploits the latest advances in systems biology to accelerate drug development and biomedical research. “CDG urges multidisciplinary teams and approaches to be deciphered”, mentions Vanessa Ferreira PhD, MBA (sibling to a CDG patient and volunteer coordinator at CDG & Allies-PPAIN). “After identifying several biotech companies, Anaxomics Biotech was the one meeting all our needs and criteria to move forward into a collaboration aimed at accelerating therapies for CDG”, added Vanessa.  

​“Anaxomics Biotech brings to CDG cutting-edge systems biology approaches to integrate scientific knowledge and molecular data with a clear spin on novel therapeutic strategies readily applicable to clinical practice”, referred Teresa Sardon PhD (Head of Analytical Services at Anaxomics).
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“We’re impressed by Anaxomics genuine solutions and patient-centric approach. Under the scope of CDG & Allies-PPAIN, we will bring benefits for the overall CDG community”, said Vanessa. 

More information:
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About Anaxomics Biotech: Anaxomics Biotech is committed to the discovery and development of new and better drugs to improve human health. Anaxomics goal is to help the biopharma industry to maximize the value of their discovery and clinical development by leveraging the potential indications of all the compounds in their pipeline, and by identifying and minimizing their potential safety risks. Anaxomics is a client-focused company, with strong stress in quality and innovative approaches to solve current bottlenecks in drug discovery and clinical development. More information HERE.

About CDG & Allies-PPAIN: With the help of a broad network of scientists, physicians, families and patient advocacy groups, we have established a patient-led national and internationally unrivaled infrastructure for research, awareness and education for CDG. The research on Glycosylation disorders is primarily dedicated to Congenital Disorders of Glycosylation (CDG). The advances and innovations achieved for CDG through CDG & Allies - PPAIN will impact on a large number of patients. Namely, the overall human diseases characterized by abnormal protein glycosylation such as cancer, inflammation, Alzheimer's disease and diabetes. Learn more HERE.

What is Systems biology? Read more HERE.
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Contact: Rita Francisco, MSc Molecular Genetics (Researcher at Working Group CDG & Heart. Learn more HERE. CDG community social manager).  Email: publicationscdg@gmail.com

A treatable Congenital Disorder of Glycosylation with no central nervous system involvement.By: Fiona Waddell, journalist and patient 
Reviewed by: Vanessa Ferreira, Volunteer APCDG (www.apcdg.com)
Posted: Thursday, May 25, 2016
Request a scientific publication at: publicationscdg@gmail.com

​Sunnie Yan-Wai Wong, BA, MD/PhD Candidate at Tulane University School of Medicine (New Orleans, USA) created with her team a rating scale to evaluate measurable clinical features of PGM1-CDG (former CDG It). This is important for early recognition and diagnosis, which is essential for proper management and improving clinical outcome.

​When this enzyme is not working, there may be a variety of clinical manifestations, including hypoglycaemia, congenital malformations, early-onset of dilated cardiomyopathy, growth retardation, hormonal deficiencies, hepatopathy, haemostatic anomalies and myopathy. Interestingly, PGM1-CDG is one of the few CDG's that has no central nervous system involvement and has been clinically shown to be tratable; therefore, early diagnosis is important.
Wong evaluated 27 patients with PGM1-CDG who were divided into 3 phenotype groups: severe, moderate and mild. She and her team developed a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates PGM1-CDG disease severity based on the patients' clinical history and presentation. They examined the relationship between genotype, enzyme activity and the TPCRS score.
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The research showed that there was a great diversity in the phenotype spectrum. Hepatopathy is the most frequent clinical manifestation, followed by hypoglycaemia, congenital malformation and growth retardation. It also showed that genotype and enzyme activity does not have any significant correlation with the TPCRS score. There were 5 clinical features identified that are strongly associated with one another and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy and growth. Congenital malformation and growth retardation can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy.

It is important to note that long-term follow-up data are not available for some of the patients and disabling symptoms may appear later with time. Although liver involvement and haemostatic anomalies do not have clear correlations with disease severity, these clinical features are common in PGM1-CDG and require timely and proper treatment. The TPCRS can be repeated on patients over time, for monitoring disease progression and responsiveness to therapeutic treatment.

Keywords:Phosphoglucomutase-1 deficiency, PGM1-CDG, Tulane PGM1-CDG Rating Scale, TPCRS, Congenital Disorders of Glycosylation (CDG).

Information for families:

• Read more about the research led by the Portuguese Association for CDG HERE
• Join the international families Facebook support group HERE
• Read CDG patient –friendly resources HERE
• Find your National CDG patient group/representative HERE
• About our Online Public Petition directed to World Health Organization (WHO) to declare 16th May as the annual World Congenital Disorders of Glycosylation (CDG) Awareness Day HERE

 
Literature used to prepare the news:
To request an article, please write to publicationscdg@gmail.com

1. Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. J Pediatr. 2016 May 17.
   
   

Source of image:
Image courtesy of Stuart Miles at FreeDigitalPhotos.net