This week, numerous studies were published in peer-reviewed journals that highlight some of the innovative work that researchers around the world are doing to advance our understanding of rare conditions. Below are some of the highlights.

Luspatercept in patients with lower-risk myelodysplastic syndromes
Pierre Fenaux and colleagues published their phase III clinical trial showing the effectiveness of luspatercept to reduce anemia in persons with myelodysplastic syndrome. The US Food and Drug Administration is currently reviewing this drug for this indication with a PDUFA date of April 4, 2020.

To read the NEJM study click here.

Multiyear follow-up of AAV5-hFVIII-SQ gene therapy for hemophilia A
K John Pasi et al reported on their long term following of 15 patients with hemophilia A receiving gene therapy. The therapy, being developed by BioMarin Pharmaceutical, showed the gene therapy to result in sustained, clinically relevant benefit.

To read the NEJM article click here.

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study
Sigrun Wohlfart and colleagues presented data on the natural history of x-linked hypohidrotic ectodermal dysplasia.

Ectodermal dysplasia is a heterogeneous group of rare congenital conditions affecting the normal development of skin, teeth, hair, nails, and eccrine glands.

To read the OJRD article click here.

Future treatments for hereditary hemorrhagic telangiectasia
Florian Robert et al provide a review of potential treatment options for hereditary hemorrhagic telangiectasia, a rare genetic vascular disease. Current no approved treatment is available for this condition but drugs that targets VEGF (vascular endothelial growth factor) and angiogenic pathways are showing promise.

To read the OJRD article click here.

Factors during a child’s illness are associated with levels of prolonged grief symptoms in bereaved mothers and fathers
Lilian Pohlkamp and colleagues provide insights on what factors may put a parent at risk for prolonged grief following the death of a child due to cancer.

To read the JCO article click here.

New frontiers in diagnosis, treatment and management of neuromuscular disorders
Bradley Turner, guest editor for an upcoming BMC Medicine special issue on neuromuscular disorders is asking for original articles focused on neuromuscular disorders.

To read the submission guidelines click here.

 

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