Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen (RetroNusiMFM)

Civil Hospices of Lyon

Status: Unknown

Conditions: Spinal Muscular Atrophy

Study type: Observational

Funder types: Other

Identifiers

NCT04644393

69HCL20_1086

Details and patient eligibility

About

The Motor Function Measure (MFM), a reliable tool assessing motor function and its progression in most neuromuscular diseases, is widely used in France in many teams. It can be used regardless of the severity of the motor impairment or the ambulatory status of the patient, allowing its use throughout the whole follow-up period of the patient, even in case of the loss of walking. Two versions of the MFM exist, one composed of 32 items validated for patients from 6 years old (MFM-32) and a shorter version composed of 20 items validated for patients between 2 and 6 years old (MFM-20).

In order to show the possible use of MFM-20 as early as the age of 2 years to validly and reliably monitor the evolution of the motor function of children treated with Nusinersen, we propose in this project to study the sensitivity to treatment-induced change of MFM-20 and the validity of the scale in this population.

Enrollment: 40 estimated patients

Sex: All

Ages: 2 to 6 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Boys and girls with Type 1 or 2 Spinal Muscular Atrophy, genetically confirmed
• Aged 2 to 6 years old
• Treated by Nusinersen for at least two months
• With at least 3 MFM-20 repeated measures, and with adelay minimum between the first and the last MFM-20 of 6 months
• With parental assent

Exclusion criteria

• • Patients with associated cognitive impairment making impossible evaluation of motor function
• Patients participating to a clinical study with a potential effect on their motor function.