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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT03779334




Registration number
NCT03779334
Ethics application status
Date submitted
17/12/2018
Date registered
19/12/2018

Titles & IDs
Public title
A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
Scientific title
An Open-Label Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
Secondary ID [1] 0 0
2018-002087-12
Secondary ID [2] 0 0
BN40703
Universal Trial Number (UTN)
Trial acronym
Rainbowfish
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Muscular Atrophy, Spinal 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Neurological 0 0 0 0
Other neurological disorders
Other 0 0 0 0
Research that is not of generic health relevance and not applicable to specific health categories listed above

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Treatment: Drugs - Risdiplam

Experimental: Open-label Risdiplam - Participants will be enrolled to receive risdiplam orally once daily at a dose selected to achieve the targeted exposure range.


Treatment: Drugs: Risdiplam
Risdiplam will be administered orally.

Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Percentage of Participants With Two Copies of the Survival Motor Neuron (SMN) 2 Gene (Excluding the Known SMN2 Gene Modifier Mutation c.859G>C) and Baseline Compound Muscle Action Potential (CMAP) >=1.5 Millivolt (mV) Who Are Sitting Without Support
Timepoint [1] 0 0
At Month 12
Secondary outcome [1] 0 0
Percentage of Participants Developing Clinically Manifested SMA
Timepoint [1] 0 0
At Month 12 and 24
Secondary outcome [2] 0 0
Time to Permanent Ventilation and/or Death
Timepoint [2] 0 0
Up to 7 years
Secondary outcome [3] 0 0
Percentage of Participants Who Are Alive Without Permanent Ventilation
Timepoint [3] 0 0
At Month 12 and 24
Secondary outcome [4] 0 0
Percentage of Participants Alive
Timepoint [4] 0 0
At Month 12 and 24
Secondary outcome [5] 0 0
Percentage of Participants Who Achieve the Attainment Level of the Motor Milestones as Assessed in the Hammersmith Infant Neurological Examination-2 (HINE-2)
Timepoint [5] 0 0
At Month 12 and 24
Secondary outcome [6] 0 0
Percentage of Participants With Two Copies of the SMN2 Gene Sitting Without Support for 5 Seconds (Independent of the CMAP Value at Baseline).
Timepoint [6] 0 0
At Month 12
Secondary outcome [7] 0 0
Percentage of Participants Sitting Without Support for 5 Seconds
Timepoint [7] 0 0
At Month 24
Secondary outcome [8] 0 0
Percentage of Participants Sitting Without Support for 30 Seconds
Timepoint [8] 0 0
At Month 12 and 24
Secondary outcome [9] 0 0
Percentage of Participants Standing for at Least 3 Seconds
Timepoint [9] 0 0
At Month 24
Secondary outcome [10] 0 0
Percentage of Participants Walking (Takes at Least 3 Steps)
Timepoint [10] 0 0
At Month 24
Secondary outcome [11] 0 0
Percentage of Participants Demonstrating the Ability to Achieve a Scaled Score on BSID-III Gross Motor Subtests Within 1.5 Standard Deviations of Chronological Reference Standard
Timepoint [11] 0 0
At Month 24 and 42
Secondary outcome [12] 0 0
Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12
Timepoint [12] 0 0
Baseline, Month 12
Secondary outcome [13] 0 0
Percentage of Participants Who Achieve a Score of 40 or Higher, 50 or Higher, and 60 or Higher in the CHOP INTEND Motor Function Scale at Month 12
Timepoint [13] 0 0
At Month 12
Secondary outcome [14] 0 0
Percentage of Participants Who Meet CHOP INTEND Stopping Criteria at Any Point
Timepoint [14] 0 0
Up to Month 24
Secondary outcome [15] 0 0
Change From Baseline in the Hammersmith Functional Motor Scale Expanded (HFMSE) Score
Timepoint [15] 0 0
At Month 60
Secondary outcome [16] 0 0
Number and Percentage of Participants Within 3rd Percentile of Normal Range for Weight-for-Age, Length/Height-for-Age and Weight-for-Length/Height
Timepoint [16] 0 0
At Month 12, 24, 36, 48 and 60
Secondary outcome [17] 0 0
Number and Percentage of Participants Within 3rd Percentile of Normal Range for Head Circumference-for-age
Timepoint [17] 0 0
At Month 12 and 24
Secondary outcome [18] 0 0
Change From Baseline Percentiles for Weight-for-age, Length/Height-for-age, and weight-for- Length/Height
Timepoint [18] 0 0
At Month 12, 24, 36, 48 and 60
Secondary outcome [19] 0 0
Change From Baseline Percentiles for Head Circumference- For-age
Timepoint [19] 0 0
At Month 12 and 24
Secondary outcome [20] 0 0
Change From Baseline in Chest Circumference
Timepoint [20] 0 0
At Month 12 and 24
Secondary outcome [21] 0 0
Ratio Between Chest and Head Circumferences
Timepoint [21] 0 0
At Month 12 and 24
Secondary outcome [22] 0 0
Percentage of Participants With the Ability to Swallow and to Feed Orally
Timepoint [22] 0 0
At Month 12, 24, 36, 48 and 60
Secondary outcome [23] 0 0
Change From Baseline in Compound Muscle Action Potential (CMAP) Amplitude
Timepoint [23] 0 0
At Month 12 and 24
Secondary outcome [24] 0 0
Measurement of Pharmacodynamic Marker Levels in Blood
Timepoint [24] 0 0
Day 1, 56, 196, 364, 728 and at early withdrawal
Secondary outcome [25] 0 0
Percentage of Participants With Adverse Events
Timepoint [25] 0 0
Up to 7 years
Secondary outcome [26] 0 0
Ophthalmological Examination as Appropriate for Age
Timepoint [26] 0 0
Up to 7 years
Secondary outcome [27] 0 0
Plasma Concentration of Risdiplam and Its Metabolites to Characterize the PK Profile
Timepoint [27] 0 0
Up to 7 years

Eligibility
Key inclusion criteria
* Males and females aged from birth (1 day) to 6 weeks (42 days) of age at the time of first dose (Day 1); a minimum age of 7 days at first dose is required for the first infant to be enrolled
* Gestational age of 37-42 weeks for singleton births; gestational age of 34-42 weeks for twins
* Body weight >= 3rd percentile for age, using appropriate country-specific guidelines
* Genetic diagnosis of 5q-autosomal recessive SMA, including confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the SMN1 gene
* Absence of clinical signs or symptoms at screening (Day -42 to Day -2) or at baseline (Day -1) that are, in the opinion of the investigator, strongly suggestive of SMA
* Receiving adequate nutrition and hydration at the time of screening, in the opinion of the investigator
* Adequately recovered from any acute illness at baseline and considered well enough to participate in the study, in the opinion of the investigator
* Able and expected to be able to safely travel to the study site for the entire duration of the study and in accordance to the frequency of required study visits, in the opinion of the investigator
* Able to complete all study procedures, measurements, and visits, and the parent (or caregiver), in the opinion of the investigator, has adequately supportive psychosocial circumstances
* Parent (or caregiver) is willing to consider nasogastric, naso-jejunal, or gastrostomy tube placement during the study to maintain safe hydration, nutrition, and treatment delivery, if recommended by the investigator
* Parent (or caregiver) is willing to consider the use of non-invasive ventilation during the study, if recommended by the investigator
Minimum age
1 Day
Maximum age
6 Weeks
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
* Concomitant or previous participation in any investigational drug or device study at any time
* Concomitant or previous administration of an SMN2-targeting antisense oligonucleotide, SMN2-splicing modifier, or gene therapy either in a clinical study or as part of medical care
* Presence of significant concurrent syndromes or diseases
* In the opinion of the investigator, inadequate venous or capillary blood access for the study procedures
* Requiring invasive ventilation, tracheostomy or awake non-invasive ventilation
* Awake hypoxemia (SaO2 < 95%) with or without ventilator support
* Multiple or fixed contractures and/or hip subluxation or dislocation at birth
* Systolic blood pressure or diastolic blood pressure or heart rate considered to be clinically significant by the investigator
* Presence of clinically relevant ECG abnormalities before study drug administration; corrected QT interval using Bazett's method > 460 ms; personal or family history (first degree relatives) of congenital long QT syndrome indicating a safety risk for patients as determined by the investigator. First-degree atrioventricular block or isolated right bundle branch block are allowed
* The infant (and the mother, if breastfeeding the infant) taking any inhibitor of CYP3A4 taken within 2 weeks, any inducer of CYP3A4 taken within 4 weeks, any OCT 2 and MATE substrates within 2 weeks and known FMO1 or FMO3 inhibitors or substrates
* Clinically significant abnormalities in laboratory test results
* Ascertained or presumptive hypersensitivity to risdiplam or to the constituents of its formulation
* Treatment with oral salbutamol or another beta-2 adrenergic agonist taken orally for SMA is not allowed. Use of inhaled beta-2 adrenergic agonists is allowed
* Infants exposed to drugs with known retinal toxicity given to mothers during pregnancy (and lactation) should not be enrolled. Anticipated need for drugs known to cause retinal toxicity during the study.
* Diagnosis of ophthalmic diseases

Study design
Purpose of the study
Treatment
Allocation to intervention
NA
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Single group
Other design features
Phase
Phase 2
Type of endpoint/s
Statistical methods / analysis

Recruitment
Recruitment status
Active, not recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 0 0
Sydney Children's Hospital; CENTRE FOR CHILD HEALTH RESEARCH & INNOVATION (CHeRI) - Randwick
Recruitment postcode(s) [1] 0 0
2031 - Randwick
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Florida
Country [2] 0 0
Belgium
State/province [2] 0 0
Liège
Country [3] 0 0
Brazil
State/province [3] 0 0
SP
Country [4] 0 0
Poland
State/province [4] 0 0
Gda?sk
Country [5] 0 0
Russian Federation
State/province [5] 0 0
Moskovskaja Oblast
Country [6] 0 0
Taiwan
State/province [6] 0 0
Kaohsiung

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Hoffmann-La Roche
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Clinical Trials
Address 0 0
Hoffmann-La Roche
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Yes
What data in particular will be shared?
Qualified researchers may request access to individual patient level data through the clinical study data request platform (www.vivli.org). Further details on Roche's criteria for eligible studies are available here (https://vivli.org/ourmember/roche/). For further details on Roche's Global Policy on the Sharing of Clinical Information and how to request access to related clinical study documents, see here (https://www.roche.com/research_and_development/who_we_are_how_we_work/clinical_trials/our_commitment_to_data_sharing.htm).
When will data be available (start and end dates)?
Available to whom?
Available for what types of analyses?
How or where can data be obtained?


What supporting documents are/will be available?

Results publications and other study-related documents

No documents have been uploaded by study researchers.