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Uno studio sul risdiplam in partecipanti con atrofia muscolare spinale (SMA) di tipo I e di tipo II

1 ottobre 2026 aggiornato da: Hoffmann-La Roche

Uno Studio Non Interventistico, Multicentrico che Indaga gli Esiti del Risdiplam in Pazienti con Atrofia Muscolare Spinale di Tipo I e Tipo 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.

Panoramica dello studio

Stato

Reclutamento

Condizioni

Atrofia Muscolare Spinale

Tipo di studio

Osservativo

Iscrizione (Stimato)

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

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

Backup dei contatti dello studio

Nome: Reference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below.
Numero di telefono: 888-662-6728 (U.S. Only)
Email: global-roche-genentech-trials@gene.com

Luoghi di studio

Egitto
- - Cairo, Egitto, 11566
    - Reclutamento
    - Neurology Department, Ain Shams University Hospitals
  - Cairo, Egitto, DUMMY_VALUE
    - Reclutamento
    - Air Force Specialized Hospital

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

Non più vecchio di 5 anni (Bambino)

Accetta volontari sani

Sessi ammissibili allo studio

Tutto

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

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.

Descrizione

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.

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

Modelli osservazionali: COHORT
Prospettive temporali: PROSPECTIVE

Coorti e interventi

Gruppo / Coorte Gruppo / Coorte Un gruppo o sottogruppo di partecipanti a uno studio osservazionale che viene valutato per gli esiti biomedici o sanitari.
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.

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato	Misura Descrizione	Lasso di tempo
Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12 Lasso di tempo: 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 Lasso di tempo: 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

Misure di risultato secondarie

Misura del risultato	Misura Descrizione	Lasso di tempo
Sopravvivenza Globale a 24 Mesi Lasso di tempo: Al mese 24		Al mese 24
Tempo fino alla perdita della funzione di deglutizione valutato dal medico dello studio Lasso di tempo: Fino al mese 24		Fino al mese 24
Change From Index Date in CHOP-INTEND Score at Month 24 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: 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 Lasso di tempo: Up to Month 24	Growth patterns will be compared to standardized growth charts.	Up to Month 24
Number of Participants With Musculoskeletal Abnormalities Lasso di tempo: 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 Lasso di tempo: 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) Lasso di tempo: 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

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

Hoffmann-La Roche

Investigatori

Direttore dello studio: Clinical Trials, Hoffmann-La Roche

Pubblicazioni e link utili

La persona responsabile dell'inserimento delle informazioni sullo studio fornisce volontariamente queste pubblicazioni. Questi possono riguardare qualsiasi cosa relativa allo studio.

Collegamenti utili

<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>

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Effettivo)

22 luglio 2026

Completamento primario (Stimato)

1 marzo 2028

Completamento dello studio (Stimato)

1 marzo 2029

Date di iscrizione allo studio

Primo inviato

8 aprile 2026

Primo inviato che soddisfa i criteri di controllo qualità