Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy (PHENO SMART)

Civil Hospices of Lyon

Status: Enrolling

Conditions: Spinal Muscular Atrophy

Treatments: Other: Evaluation of body composition and metabolism; Other: Assessment of activity and muscle fatigue; Other: Skinfold measurement; Other: First-line cognitive assessment; Other: Questionnaires; Other: evaluation of muscle function; Other: Cardiac evaluation; Radiation: MRI; Other: second-line cognitive assessment; Biological: Biocollection; Other: Assessment of bulbar function

Study type: Interventional

Funder types: Other

Identifiers

NCT06321965

69HCL22_0599

Details and patient eligibility

About

With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.

The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.

Enrollment: 60 estimated patients

Sex: All

Ages: Under 16 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Genetically confirmed infantile or juvenile spinal muscular atrophy
• Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec)
• Aged 0 to 15 years inclusive
• Informed consent signed by both parent(s)/legal guardian(s) and patient's assent
• Affiliated or beneficiary of a health insurance plan*. * for inclusion in France

Exclusion criteria

• Other condition likely to interfere significantly with ASI assessment and clearly unrelated to the disease
• Other associated neurological disease
• Current pregnancy or breast-feeding (a pregnancy test will also be performed at inclusion).

Please note that patients with a specific contraindication to MRI (i.e. metallic foreign body, claustrophobia and other reasons determined by the investigators) will be allowed to participate in the study, but MRI will not be performed.

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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60 participants in 1 patient group

SMA patient treated with SRT

Experimental group

Description:

Patients aged 0-15 with SMA type 1, 2 or 3, treated with TRS (nusinersen/risdiplam/onasemnogene abeparvovec/other).

Treatment:

Other: Assessment of bulbar function

Biological: Biocollection

Other: second-line cognitive assessment

Radiation: MRI

Other: Cardiac evaluation

Other: evaluation of muscle function

Other: Questionnaires

Other: Skinfold measurement

Other: First-line cognitive assessment

Other: Assessment of activity and muscle fatigue

Other: Evaluation of body composition and metabolism