INTRODUCTION
Editor’s note
By Glenn S. Williams
Our 7th annual issue highlights several notable FDA approvals in 2021 and early 2022, emerging genetic therapies for monogenetic disorders, and recent advances in rare disease diagnosis and testing.
A note from NORD
By Peter L. Saltonstall
As we approach NORD’s 40th anniversary, it is astonishing to realize how far we all have come since the early 1980s, when rare disease patients and their medical providers were essentially on their own to navigate the challenging waters of rare disease diagnosis and treatment.
CLINICAL REVIEWS
Health care providers should have higher suspicion for rare diseases
By Jeff Craven
Learning to recognize when a cluster of symptoms doesn’t fit a pattern is important, as patients and their providers tend to gravitate toward diagnoses they are used to seeing, rather than suspecting a disease outside a usual pattern.
The paradox of Pompe disease
By Jennie Smith
For nearly 2 decades, patients with even the most severe genetic mutations have been surviving on therapy. But clinicians must now contend with previously unknown manifestations of this rare muscular disease.
Rett syndrome: Looking to the future and the promise of gene therapy
By Courtney S. Ambrose and Barbara J. Bailus, PhD
Like many monogenic disorders, Rett syndrome is entering an exciting stage – at which the words “treatment” and “cure” can be spoken with intent and conviction, not just hopeful optimism.
Rare disease patient advocacy groups empowered by data
By Theodore Bosworth
On the IAMRARE platform, patient advocacy organizations are trained to conduct observational research and host natural history.
Myasthenia gravis: Finding strength in treatment options
By Peter van der Eb; Scarlet Toruno, MS; and Jason Laird, DMSc, MHS, MBA, PA-C
Although the treatment of myasthenia gravis might have once been considered stagnant, newer expert consensus and novel research are generating optimism for innovative therapies.
Spinal muscular atrophy: Patient care in the age of genetically targeted therapy
By Kelli Whitlock Burton
Newly available treatments have changed the natural history of SMA. Newborn screening, updated treatment guidelines, and treatment algorithms have likewise changed what can be clinically done for patients with SMA, but still questions remain.
The broad and challenging – but promising – landscape of peripheral neuropathy
By Yun Seo Lee; Jonathan Kosacki; Kanika Bhandari, PharmD; Amanda Tran, PharmD
This review of peripheral neuropathy summarizes the more common causative entities, diagnostic tools that can potentially be employed to identify the disorder, and treatments that are in use or being tested to prevent, slow, or reverse its effects.
NORD Rare Disease Centers of Excellence: A new network seeks to break down barriers in rare disease care
By Jennie Smith
“The goal was to find places that could help with unanswered questions, whether diagnostic questions or treatment questions. To identify places where a patient could reasonably expect to go and have a deeper dive – maybe an interdisciplinary deep dive.”
Staying alert for patients with narcolepsy
By Erik Greb
The chronic neurologic disorder entails not only excessive sleepiness but also social and professional challenges.
ONLINE-ONLY CONTENT
Novel gene-based therapies for neuromuscular diseases
By Nahomi Yewhalashet, MBS, and Larry J. Davis, PharmD
Novel gene-based therapies show significant potential for transforming the treatment of neuromuscular diseases such as amyotrophic lateral sclerosis, spinal muscular atrophy, and Duchenne muscular dystrophy.
The urgent need to diagnose Sanfilippo syndrome at an early age
By Theodore Bosworth
The quest for effective treatments is dependent on enrolling more children at a very young age, before loss of milestones.