Case Report: Novel LIPA Variant With Preserved Enzyme Activity Discovered
Rapid Clinical Deterioration Occurs in Patient With LAL-D After ERT Interruption
Research Needed on the Pathogenesis of HLH in Rare Diseases
Twice Weekly Sebelipase Alfa Could Benefit Severely Ill Infants With Wolman Disease
ERT May Improve Survival of Infants With LAL-D Who Undergo HCT
Mycobacterium Tuberculosis Nucleoside Accountable For Lysosomal Lipid Storage in Foamy Macrophages
Morphologic Assessment of Bone Marrow Biopsy May Help Diagnose LSDs
New Study to Assess Enzyme Replacement Therapy in Fetuses With LSDs
University of California Launches Registry of Patients With Lysosomal Storage Diseases
Latest Clinical Trials
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Treating Lysosomal Storage Diseases: More Options at Hand but Challenges Remain
Enzyme therapy for lysosomal storage diseases has evolved recently; however, current enzyme therapies have limitations.
The Challenges of Detecting Lysosomal Acid Lipase Deficiency
Lysosomal acid lipase deficiency is such a rare disease that even screening among at-risk populations may yield no results.
Drug Repurposing: A Novel Strategy for a Deeply Unequal World
The belief driving drug repurposing is that the current drugs that we do have may yet possess therapeutic aspects we aren’t fully aware of.
Supporting Patients and Their Parents Upended by an Unexpected Diagnosis
It is vital that physicians support children diagnosed with lysosomal acid lipase deficiency, as well as their parents/caregivers.
Exploring the Parental Burden of Care of Children With Rare Diseases
The parental burden of care of children with rare diseases is considerable and deserves due attention and support.
Omidubicel Shows Promise as Replacement for Umbilical Cord Blood in Stem Cell Transplants
Gamida Cell is gearing up to begin sales of omidubicel from Israel to US hospitals for use in stem cell transplants, pending FDA approval of the therapy.
At 40, Orphan Drug Act Enjoys Rare Bipartisan Support
Rare disease advocates are marking the 40th anniversary of the landmark Orphan Drug Act, which has led to over 1100 approvals for new therapies.
EveryLife Foundation Navigates Complex Issues to Advocate for Rare Disease Patients
The EveryLife Foundation for Rare Diseases pushes a legislative agenda aimed at benefitting the 30 million Americans with a rare disease.
Synthetic Control Arms Could Facilitate More RCTs in Rare Disease
Dr. Rahul Banerjee of the University of Washington discusses the benefits and drawbacks of using synthetic control arms in randomized controlled trials.
Rare Care Podcast
An Update on LAL-D With Dr. Paul Martin of Nationwide Children’s Hospital