Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms)

Launched by CHU DE REIMS · Oct 5, 2020

Keywords

ClinConnect Summary

This clinical trial is studying the effects of a treatment called nusinersen in adults who have a specific form of Spinal Muscular Atrophy (SMA), known as type 2 or type 3. SMA is a genetic condition that leads to muscle weakness and loss because the nerves that control muscles are damaged. Nusinersen is a medication that has already been approved to help manage this condition, and researchers want to see how well it works for adult patients.

To participate in the study, individuals must be over 18 years old and diagnosed with SMA type 2 or 3. They should also be recommended for nusinersen treatment by their doctor and be willing to take part in the study. Participants should live within 40 kilometers of the investigation center to make it easier for researchers to conduct assessments. Throughout the trial, participants can expect regular check-ups and monitoring to evaluate how the treatment affects their condition. It's important to note that individuals who are pregnant, breastfeeding, or have certain medical issues may not be able to join the study.

Gender

ALL

Eligibility criteria

• inclusion criteria :
• • Adults (over 18 years of age)
• • 5q-SMA type 2 or 3
• • with indication for nusinersen treatment by the physician of the center of reference and competence for neuromuscular diseases
• • accepting treatment by nusinersen
• • Agreeing to participate in the study (signature of the informed consent form).
• • living within a radius of 40 km of the investigation center (for logistical reasons related to the conduct of assessments in the patient's home).
• • affiliated to a social security system.
• exclusion criteria :
• • minors (less than 18 years of age)
• • with a contra-indication to the nusinersen: pregnancy, breast feeding, hypersensitivity to the nusinersen
• • with a contraindication to lumbar puncture: hemostasis disorder, intracerebral mass
• • benefiting from another gene therapy drug to treat spinal muscular atrophy.