Clinical trial NCT02391831: Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Official title: Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Type 2 Spinal Muscular Atrophy
Type 3 Spinal Muscular Atrophy
Keywords: SMA
Spinal Muscular Atrophy
Neuromuscular disease
Lead sponsor: Institut de Myologie, France
Sponsor class: OTHER
Collaborators: name: Institut Roche
First posted: 2015-03-18
Enrollment: 81
Sex: ALL
Minimum age (years): 2
Maximum age (years): 30
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: BASIC_SCIENCE

Brief summary: NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.


Eligibility criteria: INCLUSION CRITERIA

* Type 2 or 3 spinal muscular atrophy genetically confirmed
* Age superior or equal to 2 years old up to 30 years of age included
* For patients older than 6 years old, willing and able to comply with all protocol requirements and procedures.
* For non-ambulant patients, able to sit upright in a wheelchair for at least three hours
* Patients over 18 years of age and parent(s)/legal guardian(s) of patients \< 18 years of age must provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
* In France only: Affiliated to or a beneficiary of a social security category

EXCLUSION CRITERIA

* Previously treated with an investigational drug within 6 months prior the recruitment in this study.
* Other condition which may significantly interfere with the assessment of the SMA and is clearly not related to the disease
* Current or anticipated participation in any therapeutic investigational clinical studies.
* Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia, and others deemed to be prohibitive by the investigators) will be allowed to participate, but MRI will not be performed.
* For women : pregnancy or current breastfeeding

Primary outcomes:
measure: Change from baseline of muscle strength
timeFrame: Baseline and then every 6 months until end of the study, up to 24 months
measure: Change from baseline of motor function
timeFrame: Baseline and then every 6 months until end of the study, up to 24 months
Secondary outcomes:
measure: Change from baseline of respiratory function
timeFrame: Baseline and then every 6 months until end of the study, up to 24 months
measure: Change from baseline of physical activity of upper limbs movements
timeFrame: Baseline and then every 6 months until end of the study, up to 24 months
measure: Change from baseline of skeletal muscle nuclear magnetic resonance (NMR) imaging (MRI)
timeFrame: Baseline and then every 12 months until the end of the study, up to 24 months
measure: Change from baseline of electrophysiology measurements
timeFrame: Baseline and then every 6 months until end of the study, up to 24 months
measure: Change from baseline of Biomarkers of SMA progression
timeFrame: Baseline and then every 6 months until end of the study, up to 24 months
Other outcomes:
Locations:
city: Leuven
country: Belgium
facility: Reference centre for neuromuscular diseases - UZ Leuven - Department of Pediatrics - University Hospitals Leuven
city: Liege
country: Belgium
facility: Centre de Référence neuromusculaire - CHR La Citadelle
city: Bron
country: France
facility: Service de Rééducation Pédiatrique Infantile " L'Escale " - Hôpital Femme Mère Enfant
city: Lille
country: France
facility: Maladie Neuromusculaire de l'enfant - Service Maladies infectieuses et neurologie infantile - Hôpital Roger Salengro
city: Nantes
country: France
facility: Centre de référence Maladies Neuromusculaires Nantes-Angers - Hôtel Dieu
city: Paris
country: France
facility: I-Motion Institute - Trousseau Hospital
city: Strasbourg
country: France
facility: Neuropédiatrie - Service de Pédiatrie 1 - CHU Hautepierre
city: Toulouse
country: France
facility: Unité de neurologie pédiatrique - Hôpital des enfants
city: Essen
country: Germany
facility: Universitätsklinikum Essen (AöR) - Klinik für Kinderheilkunde I - Sozialpädiatrisches Zentrum
Study officials:
affiliation: Association Institut de Myologie
name: Laurent Servais, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Chabanon A, Seferian AM, Daron A, Pereon Y, Cances C, Vuillerot C, De Waele L, Cuisset JM, Laugel V, Schara U, Gidaro T, Gilabert S, Hogrel JY, Baudin PY, Carlier P, Fournier E, Lowes LP, Hellbach N, Seabrook T, Toledano E, Annoussamy M, Servais L; NatHis-SMA study group. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One. 2018 Jul 26;13(7):e0201004. doi: 10.1371/journal.pone.0201004. eCollection 2018.