Rare Diseases
Conference Coverage
Clinical genetic testing for skin disorders continues to advance
“The current staple of molecular diagnostic testing is multigene next-generation sequencing (NGS) panels, which allow you to interrogate two to...
Conference Coverage
Targeted therapies for vascular anomalies continue to be refined
The goal of future drug therapies is to support normal growth, “so we don’t need a maximum tolerated dose,” Dr. Denise Adams said.
Latest News
FDA approves first once-weekly growth hormone for children
The heiGHt trial demonstrated noninferiority of lonapegsomatropin to somatropin daily injections.
Conference Coverage
Study informs about risks of discontinuing meds in JIA
If patients with JIA flare after discontinuing therapy, the majority regain disease control when treatment is restarted, according to preliminary...
News
FDA approves new enzyme replacement therapy for Pompe disease
The intravenous infusion supplements GAA and helps reduce glycogen accumulation.
Conference Coverage
Genetic testing for neurofibromatosis 1: An imperfect science
“If you fulfill diagnostic criteria for NF1, the main reasons for doing genetic testing are, one, if the family wants to know that information,...
Conference Coverage
Autoinflammatory diseases ‘not so rare after all,’ expert says
“Dermatologists are in a unique position because they will often be the first specialist to see these patients and therefore make the diagnosis...
From the Journals
Novel gene therapy ‘reprograms’ cells to reverse neurologic deficits in children with rare disease
Months after surgery to deliver a gene therapy, children saw complete resolution of oculogyric crises, a hallmark of their disease, and were able...
From the Journals
U.S., international MIS-C studies yield disparate results
The two real-world observational studies were published online in The New England Journal of Medicine.
Conference Coverage
Secukinumab provides clinical benefit in phase 3 juvenile arthritis trial
Phase 3 trial shows secukinumab is effective for enthesitis-related arthritis and juvenile psoriatic arthritis in children.
Conference Coverage
EULAR, ACR present preliminary recommendations for rare genetic autoinflammatory diseases
Recent genetics research into several rare autoinflammatory diseases has provided enough data for EULAR and ACR to issue the first recommendations...