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Une étude sur le Risdiplam chez des participants atteints d'amyotrophie spinale (SMA) de type I et de type II

1 octobre 2026 mis à jour par: Hoffmann-La Roche

Une étude non interventionnelle, multicentrique évaluant les résultats du risdiplam chez des patients atteints d'amyotrophie spinale de type I et de type II

This multicenter, non-interventional, prospective study with a retrospective component aims to evaluate the real-world clinical outcomes, safety profile, and motor function improvements of Risdiplam treatment in participants with Type I and Type II Spinal Muscle Atrophy over 24 months of treatment.

The study will allow retrospective collection of medical history data and previous participants visits from the medical records.

Aperçu de l'étude

Statut

Recrutement

Les conditions

Amyotrophie spinale

Type d'étude

Observationnel

Inscription (Estimé)

Contacts et emplacements

Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.

Coordonnées de l'étude

Nom: Fastest response: use the inquiry form. https://www.gene.com/contact-us/submit-medical-inquiry

Sauvegarde des contacts de l'étude

Nom: Reference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below.
Numéro de téléphone: 888-662-6728 (U.S. Only)
E-mail: global-roche-genentech-trials@gene.com

Lieux d'étude

Egypte
- - Cairo, Egypte, 11566
    - Recrutement
    - Neurology Department, Ain Shams University Hospitals
  - Cairo, Egypte, DUMMY_VALUE
    - Recrutement
    - Air Force Specialized Hospital

Critères de participation

Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.

Critère d'éligibilité

Âges éligibles pour étudier

Pas plus vieux que 5 ans (Enfant)

Accepte les volontaires sains

Non

Sexes éligibles pour l'étude

Tout

Méthode d'échantillonnage

Échantillon non probabiliste

Population étudiée

The participants must have a confirmed diagnosis of 5q-autosomal recessive SMA type I or type II with at least two survival motor neuron 2 (SMN2) copies for which Risdiplam is prescribed as per the SmPC.

La description

Inclusion Criteria:

Maximum age to be 6 months for type I participants and 5 years for type II participants at the time of diagnosis.
Participants must start/have started treatment with Risdiplam within 6 months of diagnosis.
Participant to be receiving adequate nutrition and hydration at index date, in the opinion of the Investigator.
Participant to be adequately recovered from any acute illness at the time index date.

Exclusion Criteria:

Participants not receiving treatment for disease with Risdiplam according to standard of care and in line with the current summary of product characteristics (SPC)/local labeling.
Participants not receiving the Roche studied medicinal product, but a biosimilar.
Concomitant or previous administration in any investigational drug or device study.
Concomitant or previous administration of approved treatment for SMA other than Risdiplam.
Unstable gastrointestinal, renal, hepatic, endocrine or cardiovascular system diseases at index date.
Participants requiring invasive ventilation or tracheostomy at index date.
Participants requiring awake non-invasive ventilation due to respiratory insufficiency or with awake hypoxemia with or without ventilator support or with history of respiratory failure or severe pneumonia, and have not fully recovered their pulmonary function at the time of index date.
Severe contractures of joints of lower limbs and upper limbs at the time of index date.

Plan d'étude

Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.

Comment l'étude est-elle conçue ?

Détails de conception

Modèles d'observation: COHORT
Perspectives temporelles: PROSPECTIVE

Nombre de groupes / cohortes

Cohortes et interventions

Groupe / Cohorte
Risdiplam Observational Arm Data will be collected before, during and after treatment from participants who receive risdiplam treatment according to standard of care and Summary of Product Characteristics (SmPC). Participant data will be collected only during routine clinical interactions, with no additional study visits mandated.

Que mesure l'étude ?

Principaux critères de jugement

Mesure des résultats	Description de la mesure	Délai
Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12 Délai: Baseline, Month 12	CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by the World Health Organization (WHO). Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam.	Baseline, Month 12
Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12 Délai: Baseline, Months 12	HFMSE assessment is performed for participants who are ≥ 2 years and are sitters or walkers. Items on the original HFMS were expanded to capture higher functioning in SMA patients using 13 relevant additional items adapted from the gross motor function measure (GMFM) with their scoring adapted to a three-point scale as in the original HFMS. The score ranges between 0 - 66, a higher score indicates a higher level of function. The index date (D1) is when the participant was administered the first dose of Risdiplam.	Baseline, Months 12

Mesures de résultats secondaires

Mesure des résultats	Description de la mesure	Délai
Survie globale à 24 mois Délai: Au mois 24		Au mois 24
Temps jusqu'à la perte de la fonction de déglutition évalué par le médecin de l'étude Délai: Jusqu'au mois 24		Jusqu'au mois 24
Change From Index Date in CHOP-INTEND Score at Month 24 Délai: Baseline, Month 24	CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by WHO. Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam.	Baseline, Month 24
Percentage of Participants with CHOP-INTEND Score Improvement ≥ 4 Points Compared to Index Date at Months 12 and 24 Délai: Baseline, Months 12 and 24	CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by WHO. Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam.	Baseline, Months 12 and 24
Percentage of Participants with CHOP-INTEND Score ≥ 40 at Months 12 and 24 Délai: At Months 12 and 24	CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by WHO. Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal orientated items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes.	At Months 12 and 24
Change From Baseline in HFMSE Score at Month 24 Délai: Baseline, Month 24	HFMSE assessment is performed for participants who are ≥ 2 years and are sitters or walkers. Items on the original HFMS were expanded to capture higher functioning in SMA patients using 13 relevant additional items adapted from the GMFM with their scoring adapted to a three-point scale as in the original HFMS. The score ranges between 0 - 66, a higher score indicates a higher level of function. Baseline visit correspond with the index date (D1) where the participant was administered the first dose of Risdiplam.	Baseline, Month 24
Number of Participants who Require Ventilatory Assistance Délai: Up to 2 years follow-up per participant	Invasive ventilation and non-invasive ventilation due to respiratory insufficiency. Participants on permanent ventilation and when using it as temporary respiratory support will be assessed.	Up to 2 years follow-up per participant
Duration of Ventilation Délai: Up to 2 years follow-up per participant	Number of hours spent per day of non-invasive or invasive ventilation. Duration for both permanent ventilation and when used as temporary respiratory support will be assessed.	Up to 2 years follow-up per participant
Time Until Permanent Ventilation Délai: Up to 2 years follow-up per participant	Time until permanent ventilation is defined as ≥ 16 hours of non-invasive ventilation per day or intubation for > 21 consecutive days in the absence of, or following the resolution of, an acute reversible event or tracheostomy.	Up to 2 years follow-up per participant
Ventilation-free Survival Délai: Up to 2 years follow-up per participant	Assessed by duration of time from a specified index date until the initiation of permanent ventilation.	Up to 2 years follow-up per participant
Change From Baseline in Growth Pattern Délai: Up to Month 24	Growth patterns will be compared to standardized growth charts.	Up to Month 24
Number of Participants With Musculoskeletal Abnormalities Délai: Up to Month 24	Musculoskeletal abnormalities include scoliosis, kyphosis or other deformities	Up to Month 24
Bulbar Function as Assessed by the Study Physician Versus Baseline Délai: Up to Month 24	Bulbar function measures the ability to feed orally, chew, and ability to swallow versus baseline data. It also assesses the speaking and crying functions of the participant.	Up to Month 24
Number of Participants With Adverse Events (AE) Serious Adverse Events (SAE) Délai: Up to 2 years follow-up per participant	Data for incidence, seriousness, severity, and relatedness of all AEs reported or documented in medical notes by physicians during the safety observation period will also be reported.	Up to 2 years follow-up per participant

Collaborateurs et enquêteurs

C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.

Parrainer

Hoffmann-La Roche

Les enquêteurs

Directeur d'études: Clinical Trials, Hoffmann-La Roche

Publications et liens utiles

La personne responsable de la saisie des informations sur l'étude fournit volontairement ces publications. Il peut s'agir de tout ce qui concerne l'étude.

Liens utiles

<p>Please use this form to submit your questions for a faster response: https://www.gene.com/contact-us/submit-medical-inquiry. Do not include or attach any medical records when emailing or completing the form. A nurse will respond within 24 business hours.</p>

Dates d'enregistrement des études

Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.

Dates principales de l'étude

Début de l'étude (Réel)

22 juillet 2026

Achèvement primaire (Estimé)

1 mars 2028

Achèvement de l'étude (Estimé)

1 mars 2029

Dates d'inscription aux études

Première soumission

8 avril 2026

Première soumission répondant aux critères de contrôle qualité