Um Estudo de Risdiplam em Participantes com Atrofia Muscular Espinhal (AME) Tipo I e Tipo II
Um Estudo Não Intervencional e Multicêntrico que Investiga os Resultados do Risdiplam em Doentes com Atrofia Muscular Espinhal 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.
Visão geral do estudo
Status
Condições
Tipo de estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Fastest response: use the inquiry form. https://www.gene.com/contact-us/submit-medical-inquiry
Estude backup de contato
- Nome: Reference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below.
- Número de telefone: 888-662-6728 (U.S. Only)
- E-mail: global-roche-genentech-trials@gene.com
Locais de estudo
-
-
-
Cairo, Egito, 11566
- Recrutamento
- Neurology Department, Ain Shams University Hospitals
-
Cairo, Egito, DUMMY_VALUE
- Recrutamento
- Air Force Specialized Hospital
-
-
Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
Aceita Voluntários Saudáveis
Gêneros Elegíveis para o Estudo
Método de amostragem
População do estudo
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.
Descrição
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.
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
- Modelos de observação: COHORT
- Perspectivas de Tempo: PROSPECTIVE
Coortes e Intervenções
Grupo / Coorte |
|---|
|
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. |
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12
Prazo: 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
Prazo: 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
|
Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Sobrevivência Global ao Mês 24
Prazo: Ao Mês 24
|
Ao Mês 24
|
|
|
Tempo até à Perda da Função de Deglutição Avaliado pelo Médico do Estudo
Prazo: Até ao Mês 24
|
Até ao Mês 24
|
|
|
Change From Index Date in CHOP-INTEND Score at Month 24
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: Up to Month 24
|
Growth patterns will be compared to standardized growth charts. |
Up to Month 24
|
|
Number of Participants With Musculoskeletal Abnormalities
Prazo: 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
Prazo: 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)
Prazo: 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
|
Colaboradores e Investigadores
Patrocinador
Investigadores
- Diretor de estudo: Clinical Trials, Hoffmann-La Roche
Publicações e links úteis
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Real)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
Outros números de identificação do estudo
- ML45655
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
Informações sobre medicamentos e dispositivos, documentos de estudo
Estuda um medicamento regulamentado pela FDA dos EUA
Estuda um produto de dispositivo regulamentado pela FDA dos EUA
Essas informações foram obtidas diretamente do site clinicaltrials.gov sem nenhuma alteração. Se você tiver alguma solicitação para alterar, remover ou atualizar os detalhes do seu estudo, entre em contato com register@clinicaltrials.gov. Assim que uma alteração for implementada em clinicaltrials.gov, ela também será atualizada automaticamente em nosso site .