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Badanie Risdiplamu u Uczestników z Rdzeniowym Zanikiem Mięśni (SMA) Typu I i Typu II

1 października 2026 zaktualizowane przez: Hoffmann-La Roche

Nieinterwencyjne, wieloośrodkowe badanie oceniające wyniki leczenia ryzdipamem u pacjentów z rdzeniowym zanikiem mięśni typu I i typu 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.

Przegląd badań

Status

Rekrutacyjny

Warunki

Rdzeniowy Zanik Mięśni

Typ studiów

Obserwacyjny

Zapisy (Szacowany)

Kontakty i lokalizacje

Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.

Kontakt w sprawie studiów

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

Kopia zapasowa kontaktu do badania

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

Lokalizacje studiów

Egipt
- - Cairo, Egipt, 11566
    - Rekrutacyjny
    - Neurology Department, Ain Shams University Hospitals
  - Cairo, Egipt, DUMMY_VALUE
    - Rekrutacyjny
    - Air Force Specialized Hospital

Kryteria uczestnictwa

Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.

Kryteria kwalifikacji

Wiek uprawniający do nauki

Nie starszy niż 5 lat (Dziecko)

Akceptuje zdrowych ochotników

Nie

Płeć kwalifikująca się do nauki

Wszystko

Metoda próbkowania

Próbka bez prawdopodobieństwa

Badana populacja

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.

Opis

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 studiów

Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.

Jak projektuje się badanie?

Szczegóły projektu

Modele obserwacyjne: COHORT
Perspektywy czasowe: PROSPECTIVE

Kohorty i interwencje

Grupa / Kohorta Grupa / Kohorta Grupa lub podgrupa uczestników badania obserwacyjnego ocenianego pod kątem wyników biomedycznych lub zdrowotnych.
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.

Co mierzy badanie?

Podstawowe miary wyniku

Miara wyniku	Opis środka	Ramy czasowe
Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12 Ramy czasowe: 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 Ramy czasowe: 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

Miary wyników drugorzędnych

Miara wyniku	Opis środka	Ramy czasowe
Przeżycie całkowite w 24. miesiącu Ramy czasowe: W 24. miesiącu		W 24. miesiącu
Czas do utraty funkcji połykania oceniany przez lekarza prowadzącego badanie Ramy czasowe: Do 24. miesiąca		Do 24. miesiąca
Change From Index Date in CHOP-INTEND Score at Month 24 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: 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 Ramy czasowe: Up to Month 24	Growth patterns will be compared to standardized growth charts.	Up to Month 24
Number of Participants With Musculoskeletal Abnormalities Ramy czasowe: 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 Ramy czasowe: 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) Ramy czasowe: 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

Współpracownicy i badacze

Tutaj znajdziesz osoby i organizacje zaangażowane w to badanie.

Sponsor

Hoffmann-La Roche

Śledczy

Dyrektor Studium: Clinical Trials, Hoffmann-La Roche

Publikacje i pomocne linki

Osoba odpowiedzialna za wprowadzenie informacji o badaniu dobrowolnie udostępnia te publikacje. Mogą one dotyczyć wszystkiego, co jest związane z badaniem.

Przydatne linki

<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>

Daty zapisu na studia

Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.

Główne daty studiów

Rozpoczęcie studiów (Rzeczywisty)

22 lipca 2026

Zakończenie podstawowe (Szacowany)

1 marca 2028

Ukończenie studiów (Szacowany)

1 marca 2029

Daty rejestracji na studia

Pierwszy przesłany

8 kwietnia 2026

Pierwszy przesłany, który spełnia kryteria kontroli jakości