Rare Diseases
Conference Coverage
Experts address barriers to genetic screening
WASHINGTON – Panel explores clinical implications of removing barriers to genetic testing for newborns and carriers.
Supplements
Rare Pediatric Diseases Special Report 2019
Conference Coverage
Baricitinib may benefit patients with Aicardi-Goutières syndrome
CHARLOTTE, N.C. – A compassionate use trial indicates that JAK inhibition may have a role in the treatment of genetic interferonopathies.
News from the FDA/CDC
FDA approves rituximab to treat children with rare vasculitis
From the Journals
Anakinra treatment for pediatric ‘cytokine storms’: Does one size fit all?
A retrospective cohort study saw mortality reduced if anakinra was administered early to treat sHLH/MAS. But experts caution that anakinra may not...
From the Journals
Juvenile dermatomyositis derails growth and pubertal development
Delayed puberty and growth failure were observed in children with juvenile dermatomyositis.
From the Journals
New genotype of S. pyrogenes found in rise of scarlet fever in U.K.
Conference Coverage
Expert spotlights telltale clinical signs of xeroderma pigmentosum
AUSTIN, TEX. – Referral to a patient support group is key to coping.
Conference Coverage
Cerliponase alfa continues to impress for CLN2 disease
BANGKOK – The therapy durably slowed decline in motor and language function seen after 3 years of treatment.
Conference Coverage
‘Pot’ is still hot for Dravet, Lennox-Gastaut
BANGKOK – Long-term extension studies show sustained, consistent seizure reductions.
From the Journals
Possible role of enterovirus infection in acute flaccid myelitis cases detected
High levels of enterovirus peptides were found in the cerebral spinal fluid of individuals with AFM.