Research

Leaders in pediatric neuromuscular research

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Our team members have been key participants in researching and developing innovative therapeutics for neuromuscular disorders that have achieved FDA approval:

Zolgensma

• past participation in STR1VE trial for symptomatic SMA type 1 patients to receive IV zolgensma, STRONG trial for sitting but non-ambulatory SMA patient to receive IT zolgensma, SPR1NT trial for presymptomatic infants younger than 6 weeks with 2 or 3 copies for the SMN2 gene to receive IV zolgensma
•  current participation in ongoing SMART trial for IV zolgensma in children with SMA up to 21kg, long term follow-up study for those in prior zolgensma clinical trials, RESTORE registry to follow newly diagnosed individuals with SMA receiving routine clinical care

Spinraza

• past participation in CHERISH trial to assess nusinersen dosing in participants with later onset SMA, ENDEAR trial to assess nusinersen dosing in infants with SMA type 1 , and Expanded Access Program
• past participation in SHINE trial for participants with SMA who previously participated in nusinersen studies to assess continued dosing
• participation in RESPOND trial to study nusinersen in participants with SMA who previously received Zolgensma, Spinraza in Adults with SMA (SAS) study to observe affect of adults with SMA type II/III initiating clinical treatment with Spinraza

Risdiplam

• past participation in Expanded Access Program

Elevidys

• ongoing participation in the Phase I SRP-9001-103 trial (ENDEAVOR), an open-label gene transfer therapy study evaluating the safety of and expression from SRP-9001 (delandistrogene moxeparvovec) in participants with DMD over 260 weeks.
  • Highest enrolling site in this ongoing trial with multiple cohorts
• ongoing participation in the Phase III SRP-9001-301 trial (EMBARK) in 4-7 year old boys with DMD to evaluate the safety and efficacy of gene transfer therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study. The participants who are randomized to the placebo arm will have an opportunity for treatment with gene transfer therapy at the beginning of the second year
• ongoing participation in the Phase III SRP-9001-303 trial (ENVISION) to evaluate the safety and efficacy of SRP-9001 gene transfer therapy in non-ambulatory and ambulatory males with DMD. This is a randomized, double-blind, placebo-controlled 2-part study. All participants will have the opportunity to receive intravenous (IV) SRP-9001 (delandistrogene moxeparvovec) in either Part 1 or Part 2
• ongoing participation in the Phase III SRP-9001-305 trial a, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical Study
• ongoing participation in the SRP-9001-105 trial, An Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability and Expression of SRP-9001 following plasmapheresis in Subjects with Duchenne Muscular Dystrophy and pre-existing Antibodies to AAVrh74

Duvyzat

• past participation in the DSC/14/2357/48 trial, a Phase III randomised, double blind, placebo controlled, multicenter study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne Muscular Dystrophy
• current participation in the DSC/14/2357/51 trial, an open label, long-term safety, tolerability, and efficacy study of givinostat in all DMD patients who have been previously treated in one of the givinostat studies

Exondys 51

• past participation in 4658-201 trial to evaluate Exondys 51 at 2 doses in boys with DMD, 4658-202 trial to evaluation ongoing efficacy and safety of continued dosing of Exondys 51 in boys with DMD who completed the 201 trial, 4658-203 to evaluate Exondys 51 administration in young males with early stage DMD, and 4658-204 study to evaluate safety and efficacy of Exondys 51 in participants with advanced stage DMD
• Current participation in 4658-403 EVOLVE registry, an observational study for patients clinically receiving Exondys 51, Amondys 45, and Vyondys 53

Viltolarsen

• Past participation in NS-065/NCNP-01-201 trial to assess safety and dosing of viltolarsen and NS-065/NCNP-01-202 trial, an extension study for boys with DMD who completed the 201 trial to continue viltolarsen and investigate ongoing safety and efficacy of dosing

Amondys 45 and Vyondys 53

• Past participation in the 4045-301 ESSENCE trial, evaluating efficacy of Amondys 45 and Vyondys 53 compared to placebo in boys with DMD and the 4045-302 trial, a long term open label extension of the ESSENCE trial evaluating Amondys 45 and Vyondys 53
• Current participation in 4658-403 EVOLVE registry, an observational study for patients clinically receiving Exondys 51, Amondys 45, and Vyondys 53

Lumizyme

• Past participation in AGLU02704 study, a placebo-controlled stydy of safety and efficacy of Myozyme in patients with late-onset Pompe disease