This is a longitudinal, observational study of ambulatory and non-ambulatory adult patients with genetically confirmed chromosome 5q spinal muscular atrophy (SMA) to examine the safety, tolerability, and effectiveness of SPINRAZA® (nusinersen) for up to 30 months.
This study does not provide SPINRAZA or cover costs associated with standard clinical care. These patients will be treated by their respective physicians according to standard clinical practice. Study visits include standardized assessments of strength and function, and occur at baseline, day 15, after treatment initiation, day 30, day 60, and then at 4-month intervals through month 30.
Principal Investigator: Shafeeq Ladha, MD
The purpose of this study is to obtain information pertaining to the occurrence of SPK-GAA antibodies and other laboratory measures in participants with Late Onset Pompe Disease (LOPD) on an enzyme replacement therapy regimen. Additionally, this study will collect retrospective laboratory and medically-relevant historic data relating to Pompe disease from participants in hopes to provide a better understanding of LOPD features to improve the design of a future phase 1/2 interventional gene therapy trial. In most cases, participants will attend a one-time clinic visit, though the option of two separate study visits may be available.
Principal Investigator: Shafeeq Ladha, MD
The purpose of this study is to evaluate the efficacy, safety, and tolerability of HYQVIA/HyQvia as a maintenance therapy to prevent relapse and for the treatment of CIDP. Subjects must be on a stable dosing regimen of IVIG therapy for at least 12 weeks prior to enrollment.
For up to the first 8 weeks, subjects will continue to receive their own IVIG treatment at the same dose and frequency as prescribed prior to entry into the study. Then, subjects will be randomized to receive HyQvia administered through a subcutaneous infusion (i.e. a small needle inserted under the skin) every 2, 3, or 4 weeks for a total of 10 to 15 weeks. Overall, participants may be in the research study for about 28 weeks.
Principal Investigator: Suraj Muley, MD
REFINE-ALS
The purpose of this study is to identify biomarkers to serve as quantifiable measures of Edaravone effects in ALS in those who are initiating clinically prescribed Edaravone treatment for the first time or within one month of consenting. Participants in the study will be followed from enrollment up to 24 weeks after treatment initiation (i.e. 6 treatment cycles).
Principal Investigator: Shafeeq Ladha, MD
