Treatment Options in Congenital Disorders of Glycosylation

Frontiers in Genetics ◽

10.3389/fgene.2021.735348 ◽

2021 ◽

Vol 12 ◽

Author(s):

Julien H. Park ◽

Thorsten Marquardt

Keyword(s):

Rare Diseases ◽

Treatment Options ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation ◽

Novel Therapies ◽

Secondary Disease ◽

Symptomatic Management

Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies aimed both at the causative defect and secondary disease manifestations have been transferred from bench to bedside. In this review, we aim to give a detailed overview of the available therapies and rising concepts to treat these ultra-rare diseases.

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Congenital disorders of glycosylation and the challenge of rare diseases

Human Mutation ◽

10.1002/humu.23829 ◽

2019 ◽

Cited By ~ 1

Author(s):

Brian M. Gilfix

Keyword(s):

Rare Diseases ◽

Congenital Disorders ◽

Congenital Disorders Of Glycosylation

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The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

Emerging Topics in Life Sciences ◽

10.1042/etls20180178 ◽

2019 ◽

Vol 3 (1) ◽

pp. 97-105

Author(s):

Mary Zuccato ◽

Dustin Shilling ◽

David C. Fajgenbaum

Keyword(s):

Rare Diseases ◽

Treatment Options ◽

Castleman Disease ◽

High Impact ◽

Collaborative Network ◽

Network Approach ◽

Grant Applications ◽

Research Questions ◽

Novel Strategy ◽

Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

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Faculty Opinions recommendation of Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717956777.793461365 ◽

2012 ◽

Author(s):

Jane Hewitt

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Gene Identification ◽

Congenital Disorders ◽

Type I ◽

Congenital Disorders Of Glycosylation ◽

Whole Exome

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Musculoskeletal Manifestations of Sarcoidosis: A Review Article

Current Rheumatology Reviews ◽

10.2174/1573397114666180425111901 ◽

2019 ◽

Vol 15 (2) ◽

pp. 83-89 ◽

Cited By ~ 4

Author(s):

Somayeh Shariatmaghani ◽

Roshanak Salari ◽

Maryam Sahebari ◽

Payman Shalchian Tabrizi ◽

Masoumeh Salari

Keyword(s):

Treatment Options ◽

Immunosuppressive Drugs ◽

Bone Lesions ◽

Symptomatic Management ◽

Muscular Disease ◽

Initial Symptoms ◽

Skeletal Complications ◽

Musculoskeletal Manifestations ◽

Fdg Pet Ct ◽

Musculoskeletal Involvement

Background: Sarcoidosis is a multisystem inflammatory disease with an etiology that is not clearly understood. Amongst the different organs that may be affected, the lungs are the most common. Musculoskeletal manifestations of the disease are uncommon. Objectives: They include arthropathy, bone lesions, or myopathy, all of which may occur as initial symptoms or develop during the course of the disease. Methods: : Articular involvement my present as arthralgia or arthritis. Skeletal complications usually develop in the chronic state of the disease. Muscular disease is rare and usually asymptomatic. Appropriate imaging modalities including X-ray, MRI, FDG-PET/CT assist in the diagnosis of rheumatic sarcoidosis. However, biopsy is necessary for definite diagnosis. Result and Conclusion: In most cases of musculoskeletal involvement, NSAIDs and corticosteroids are sufficient for symptomatic management. For more resistant cases immunosuppressive drugs (i.e., methotrexate) and TNF- inhibitors are used. Our aim is to review various types of musculoskeletal involvement in sarcoidosis and their existing treatment options.

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