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

Hospices Civils de Lyon40 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Spinal Muscular Atrophy

Eligibility

Sex: ALLMin age: 2 YearsMax age: 6 Years

Medical Language ↔ Plain English

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.

Locations (8)

Service de neuropédiatrie et neurochirurgie de l'enfant Centre de Référence maladies neuromusculaires AOC CHU d'Angers

Angers, France

Service de génétique médicale Pôle de Pédiatrie CHU Estaing

Clermont-Ferrand, France

Service de Neurologie et réanimation pédiatriques CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Garche, France

Hospices Civils de Lyon, Hôpital Femme Mère Enfant

Lyon, France

Apf Esean

Nantes, France

Institut I-Motion - Centre de recherche pédiatrique en pathologies neuromusculaires CHU Paris Est - Hôpital d'Enfants Armand-Trousseau

Paris, France

Service de pédiatrie CHU de Saint-Etienne

Saint-Priest-en-Jarez, France

Unité de Neurologie Pédiatrique Centre de Référence Maladies NeuroMusculaires Hôpital des Enfants CHU Toulouse

Toulouse, France

Outcomes

Primary Outcomes

MFM-20 responsiveness

The MFM-20 sensitivity to change indexes considered will be the effect amplitude and the Standardized Response Mean (SRM).

Time frame: At least 6 Months after the first MFM-20 assessment, and at maximum 24 months