The Use of Molecular Testing in Limb Girdle Muscular Dystrophy: Douglas Sproule, MD, MSc

WATCH TIME: 3 minutes 

“I think that clinical care and the advances in diagnostic testing have transformed the opportunities. I look back 5 years; I would have been a pessimist looking forward at the [limb girdle muscular dystrophy] field.”

Limb-girdle muscular dystrophy (LGMD) Type 2I is caused by biallelic partial loss-of-function of the FKRP gene, which results in hypoglycosylation of alpha-dystroglycan (αDG).¹ One of the therapies that is being developed for LGMD Type 2 is called BBP-418, which is an orally administered therapy intended to saturate the partially functional FKRP enzyme, driving increased glycosylation of αDG.

Douglas Sproule, MD, MSc, and colleagues presented preliminary results from a phase 2 study (NCT04800874) of BBP-418 for LGMD2I at the annual Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023. Investigators intended to assess the safety and tolerability of BBP-418 as well as the feasibility and usefulness of clinical efficacy and pharmacodynamic (PD) assessments in patients.

Sproule, chief medical officer at ML Bio Solutions, sat down with NeurologyLive^® in an interview at the conference to talk about the recent advancements in clinical care with neuromuscular diseases including LGMD. He also spoke about molecular testing for diagnosis in LGMD. In addition, he talked about the pathway to treatments such as the development of gene therapies and how industry partners help move the field forward in research. 

Click here for more coverage of MDA 2023.

REFERENCES
1. Sproule D, Harper A, Langeslay R, et al. Preliminary Results from MLB-01-003: An Open Label Phase 2 Study of BBP-418 in Patients with Limb-girdle Muscular Dystrophy Type 2I. Presented at: MDA 2023; March 19-22; Dallas, Texas. Poster 139.