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

Sponsor

Hospices Civils de Lyon (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT04644393

Collaborator

(none)

Enrollment

Locations

3.9

Anticipated Duration (Months)

Patients Per Site

1.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Spinal Muscular Atrophy

Study Design

Study Type:

Observational

Anticipated Enrollment :

40 participants

Observational Model:

Other

Time Perspective:

Retrospective

Official Title:

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

Anticipated Study Start Date :

Nov 1, 2020

Anticipated Primary Completion Date :

Mar 1, 2021

Anticipated Study Completion Date :

Mar 1, 2021

Outcome Measures

Primary Outcome Measures

MFM-20 responsiveness [At least 6 Months after the first MFM-20 assessment, and at maximum 24 months]
The MFM-20 sensitivity to change indexes considered will be the effect amplitude and the Standardized Response Mean (SRM).

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years to 6 Years

Sexes Eligible for Study:

All

Accepts 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.

Contacts and Locations

Locations

	Site	City	Country
1	Service de neuropédiatrie et neurochirurgie de l'enfant Centre de Référence maladies neuromusculaires AOC CHU d'Angers	Angers	France
2	Service de génétique médicale Pôle de Pédiatrie CHU Estaing	Clermont-Ferrand	France
3	Service de Neurologie et réanimation pédiatriques CHU Paris IdF Ouest - Hôpital Raymond Poincaré	Garche	France
4	Hospices Civils de Lyon, Hôpital Femme Mère Enfant	Lyon	France
5	Apf Esean	Nantes	France
6	Institut I-Motion - Centre de recherche pédiatrique en pathologies neuromusculaires CHU Paris Est - Hôpital d'Enfants Armand-Trousseau	Paris	France
7	Service de pédiatrie CHU de Saint-Etienne	Saint-Priest-en-Jarez	France
8	Unité de Neurologie Pédiatrique Centre de Référence Maladies NeuroMusculaires Hôpital des Enfants CHU Toulouse	Toulouse	France