Crystal Proud, MD

The director of neurology and neuromuscular medicine at the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, provided background on findings from the phase 4 RESPOND study, and the potential of combining therapeutic approaches in SMA. [WATCH TIME: 4 minutes]

Crystal Proud, MD, demonstrates a typical neurological telehealth exam for pediatric SMA with one of her patients.

Families with patients with SMA share advice for community neurologists on helping new patients through the diagnostic process.

Patients describe how their lives have changed since their SMA diagnosis, and a neurologist provides advice for community physicians.

Crystal Proud, MD, and Craig Zaidman, MD, discuss the necessity and urgency of genetic testing for SMA in children and adolescents.

Experts explain the next steps for families and physicians after SMA is suspected in a child.

An overview of the signs and symptoms that physicians look for in telehealth exams when SMA is suspected.

A discussion of the benefits of using telehealth for SMA management for clinicians and families.

Two pediatric neurologists describe their experiences with telehealth appointments for SMA during the COVID-19 pandemic.

Craig Zaidman, MD, discusses how critically important newborn SMA screening is and early diagnosis and treatment of SMA.

Families describe their diagnostic journeys with SMA and when they were referred to SMA specialists.

Dr Craig Zaidman details the symptoms a physician looks for in a pediatric patient when making an SMA diagnosis.

Families with patients with SMA explain the signs and symptoms shown by their children that prompted a doctor’s visit.

Advances in technology and research have pushed the field to the brink of a revolutionary era of treatment.

A panel of experts considers current unmet needs in SMA by emphasizing the need for further study of combination therapy, more comprehensive newborn screening, and more effective early diagnosis and treatment.

Key opinion leader in neurology Claudia Chiriboga, MD, MPH provides insight into response to risdiplam in patients with SMA who were not naïve to treatment as studied in the JEWELFISH clinical trial.

Tom Crawford, MD, examines data from the SUNFISH trial of patients with type 2 and type 3 SMA and emphasizes the need for further data before risdiplam can be directly compared to other treatment options.

Basil Darras, MD discusses the FIREFISH trial of risdiplam in infants with type 1 symptomatic SMA and comments on the difficulty of comparing agents when trials have had different enrollment criteria.

Expert pediatric neurologist Carolina Tesi Rocha, MD gives insight into the mechanism of action of risdiplam and comments on the need for further monitoring of its potential adverse effects.

Claudia Chiriboga, MD, MPH reviews data from the SPR1NT clinical trial of patients with presymptomatic SMA and emphasizes how the trial highlights the importance of prenatal screening and early treatment.

Basil Darras, MD provides an overview of safety and efficacy data from the phase 3 STR1VE clinical trial of onasemnogene abeparvovec in patients with symptomatic SMA up to 6 months of age.

Tom Crawford, MD provides key insights into the START clinical trial of onasemnogene abeparvovec in symptomatic SMA and discusses its safety and efficacy for children up to 24 months of age.

Key opinion leader in neurology Carolina Tesi Rocha, MD provides an overview of onasemnogene abeparvovec by discussing its mechanism of action, safety, and efficacy for patients with SMA.

Experts in neurology Tom Crawford, MD and Claudia Chiriboga, MD, MPH discuss the impact of the NURTURE trial of nusinersen in patients with presymptomatic SMA.

Basil Darras, MD reviews data from the ENDEAR trial of nusinersen in infantile SMA and discusses the agent’s safety and efficacy in patients of differing age groups as studied in other trials.

Carolina Tesi Rocha, MD examines the recent shift to disease-modifying treatment in SMA, and the panel reviews factors to consider when tailoring therapy to individual patients.

Key opinion leaders in neurology comment on the importance of awareness and urgency in the primary care setting to diagnose spinal muscular atrophy and refer the patient to a specialist.

A panel of experts in SMA builds a lively discussion on the accuracy and prognostic value of genetic testing and screening and examines how results may impact treatment considerations.

Basil Darras, MD considers the impact of genetic testing for SMN1 deletion and SMN2 copy numbers in potential patients and discusses best practices to prevent diagnostic delay. 

Expert neurologist Carolina Tesi Rocha, MD reviews the signs and symptoms of SMA and their impact on the delay of developmental milestones in infants and toddlers.