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Tutkimus Risdiplamista osallistujilla, joilla on tyypin I ja tyypin II selkäydinkanavan lihasdystrofia (SMA)

tiistai 3. marraskuuta 2026 päivittänyt: Hoffmann-La Roche

Interventionaaliton, monikeskuksinen tutkimus risdiplamin tuloksista tyypin I ja tyypin II selkäydinlihasatrofiapotilailla

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.

Tutkimuksen yleiskatsaus

Tila

Rekrytointi

Ehdot

Selkäydinlihasten atrofia

Opintotyyppi

Havainnollistava

Ilmoittautuminen (Arvioitu)

Yhteystiedot ja paikat

Tässä osiossa on tutkimuksen suorittajien yhteystiedot ja tiedot siitä, missä tämä tutkimus suoritetaan.

Opiskeluyhteys

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

Tutki yhteystietojen varmuuskopiointi

Nimi: Reference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below.
Puhelinnumero: 888-662-6728 (U.S. Only)
Sähköposti: global-roche-genentech-trials@gene.com

Opiskelupaikat

Egypti
- - Cairo, Egypti, 11566
    - Rekrytointi
    - Neurology Department, Ain Shams University Hospitals
  - Cairo, Egypti, DUMMY_VALUE
    - Rekrytointi
    - Air Force Specialized Hospital

Osallistumiskriteerit

Tutkijat etsivät ihmisiä, jotka sopivat tiettyyn kuvaukseen, jota kutsutaan kelpoisuuskriteereiksi. Joitakin esimerkkejä näistä kriteereistä ovat henkilön yleinen terveydentila tai aiemmat hoidot.

Kelpoisuusvaatimukset

Opintokelpoiset iät

Ei vanhempi kuin 5 vuotta (Lapsi)

Hyväksyy terveitä vapaaehtoisia

Sukupuolet, jotka voivat opiskella

Kaikki

Näytteenottomenetelmä

Ei-todennäköisyysnäyte

Tutkimusväestö

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.

Kuvaus

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.

Opintosuunnitelma

Tässä osiossa on tietoja tutkimussuunnitelmasta, mukaan lukien kuinka tutkimus on suunniteltu ja mitä tutkimuksella mitataan.

Miten tutkimus on suunniteltu?

Suunnittelun yksityiskohdat

Havaintomallit: COHORT
Aikanäkymät: PROSPECTIVE

Ryhmien/kohorttien lukumäärä

Kohortit ja interventiot

Ryhmä/Kohortti
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.

Mitä tutkimuksessa mitataan?

Ensisijaiset tulostoimenpiteet

Tulosmittaus	Toimenpiteen kuvaus	Aikaikkuna
Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12 Aikaikkuna: 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 Aikaikkuna: 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

Toissijaiset tulostoimenpiteet

Tulosmittaus	Toimenpiteen kuvaus	Aikaikkuna
Kokonaiselossaolo 24 kuukauden kohdalla Aikaikkuna: 24. kuukauden kohdalla		24. kuukauden kohdalla
Aika nielemistoiminnon menetykseen, jonka arvioi tutkimuksen lääkäri Aikaikkuna: Enintään 24 kuukautta		Enintään 24 kuukautta
Change From Index Date in CHOP-INTEND Score at Month 24 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: 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 Aikaikkuna: Up to Month 24	Growth patterns will be compared to standardized growth charts.	Up to Month 24
Number of Participants With Musculoskeletal Abnormalities Aikaikkuna: 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 Aikaikkuna: 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) Aikaikkuna: 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

Yhteistyökumppanit ja tutkijat

Täältä löydät tähän tutkimukseen osallistuvat ihmiset ja organisaatiot.

Sponsori

Hoffmann-La Roche

Tutkijat

Opintojohtaja: Clinical Trials, Hoffmann-La Roche

Julkaisuja ja hyödyllisiä linkkejä

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Hyödyllisiä linkkejä

<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>

Opintojen ennätyspäivät

Nämä päivämäärät seuraavat ClinicalTrials.gov-sivustolle lähetettyjen tutkimustietueiden ja yhteenvetojen edistymistä. National Library of Medicine (NLM) tarkistaa tutkimustiedot ja raportoidut tulokset varmistaakseen, että ne täyttävät tietyt laadunvalvontastandardit, ennen kuin ne julkaistaan julkisella verkkosivustolla.

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