Clinical trial NCT04644393: Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen
Official title: Responsiveness and Validation Study of MFM-20 in SMA Patients Treated With Nusinersen: Retro NusiMFM
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Spinal Muscular Atrophy
Keywords: Spinal Muscular Atrophy
Motor Function Measure
Outcome Assessment
Nusinersen
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2020-11-25
Enrollment: 40
Sex: ALL
Minimum age (years): 2
Maximum age (years): 6
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: * 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

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
measure: MFM-20 responsiveness
timeFrame: At least 6 Months after the first MFM-20 assessment, and at maximum 24 months
Secondary outcomes:
Other outcomes:
Locations:
city: Angers
country: France
facility: Service de neuropédiatrie et neurochirurgie de l'enfant Centre de Référence maladies neuromusculaires AOC CHU d'Angers
city: Clermont-Ferrand
country: France
facility: Service de génétique médicale Pôle de Pédiatrie CHU Estaing
city: Garche
country: France
facility: Service de Neurologie et réanimation pédiatriques CHU Paris IdF Ouest - Hôpital Raymond Poincaré
city: Lyon
country: France
facility: Hospices Civils de Lyon, Hôpital Femme Mère Enfant
city: Nantes
country: France
facility: Apf Esean
city: Paris
country: France
facility: Institut I-Motion - Centre de recherche pédiatrique en pathologies neuromusculaires CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
city: Saint-Priest-en-Jarez
country: France
facility: Service de pédiatrie CHU de Saint-Etienne
city: Toulouse
country: France
facility: Unité de Neurologie Pédiatrique Centre de Référence Maladies NeuroMusculaires Hôpital des Enfants CHU Toulouse
Study officials:
References: