Revisiting the immunopathology of congenital disorders of glycosylation: an updated review
Year: 2024
Languages: English
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
Year: 2024
Languages: English
Congenital disorders of glycosylation (CDG): state of the art in 2022
Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However, much remains to be understood, with targeted therapies' discovery and approval being the most urgent unmet need.
Year: 2023
Languages: English
A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases
Abstract: At least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases.
Year: 2022
Languages: English
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
Background: Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences. There are no approved therapies for this condition.
Year: 2022
Languages: English
DOLK-CDG Infographic
Year: 2022
Languages: English, Italian, Portuguese, Spanish
COG4-CDG Infographic
Year: 2022
Languages: English, Italian, Portuguese, Spanish
The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and CDG questionnaire (ImmunoCDGQ)
Background: Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-based platforms ofer privileged opportunities for biomedical data gathering, and participant recruitment, particularly in rare diseases.
Year: 2022
Languages: English
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. To better understand the reasons behind this, to analyze ongoing therapy research and development (R&D) for CDG, and to provide future guidance, a community-led mixed methods approach was organized during the 4th World Conference on CDG for Families and Professionals.
Year: 2022
Languages: English
Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective
Background: Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which
therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous
eforts of the CDG medical/scientifc and patient communities. Hence, CDG drug development is a popular research
Year: 2022
Languages: English