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Satellite Stem Cells and Muscular Dystrophy

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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...

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Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

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RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy -

Richard S Finkel¹, John W Day², Darryl C De Vivo³

¹Department of Pediatrics, Division of Neurology, Nemours Children's Hospital, Orlando, FL, United States.

Journal of Neuromuscular Diseases

|February 11, 2020

Summary

This summary is machine-generated.

The RESTORE registry collects real-world data on spinal muscular atrophy (SMA) treatments to understand their long-term effectiveness and safety. This observational study tracks patient outcomes and caregiver impact for improved SMA care.

Keywords:

Spinal muscular atrophy long-term follow-up multinational outcomes prospective rare disease registry

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Area of Science:

Neurology
Genetics
Clinical Research

Background:

Spinal muscular atrophy (SMA) treatments have advanced, necessitating real-world data collection.
Understanding long-term efficacy and safety of new SMA interventions is crucial for patients and caregivers.

Purpose of the Study:

To assess outcomes in genetically confirmed SMA patients.
To gather data on the effectiveness and long-term safety of approved and emerging SMA treatments.

Main Methods:

RESTORE is a prospective, multinational observational registry.
Data will be collected from newly recruited and existing SMA registry sites.
Patients will be enrolled for 5 years and followed for 15 years, including assessments of motor milestones, quality of life, and survival.

Main Results:

Recruitment began in September 2018, with 64 patients enrolled at 25 sites by January 2020.
The registry is designed to capture comprehensive patient data.

Conclusions:

The RESTORE Registry is actively enrolling patients with genetically confirmed SMA.
It will provide essential short- and long-term outcome data for SMA patients.