RAINBOWFISH
Helping newborns with SMA reach milestones that matter
RAINBOWFISH is an open-label study in newborns with presymptomatic spinal muscular atrophy (SMA).
Evrysdi helped infants with a wide range of SMA severity sit without support
AFTER 1 YEAR OF TREATMENT
INFANTS WITH 2 SMN2 COPIES (n=8)
of infants (7/8) were able to sit without support for at least 5 seconds
of infants (7/8) were able to sit without support for at least 5 seconds, as measured by BSID-III
TOTAL INFANTS IN STUDY (N=26)
of infants (25/26) were able to sit without support for at least 5 seconds
81% of infants (21/26) were able to sit without support for 30 seconds
of infants (25/26) were able to sit without support for at least 5 seconds, as measured by BSID-III
81% of infants (21/26) were able to sit without support for 30 seconds, as measured by BSID-III
As measured by BSID-III
EXPLORATORY OBSERVATIONS SUGGEST
Evrysdi helped infants continue to achieve key milestones at 2 years of treatment
AFTER 2 YEARS OF TREATMENT
INFANTS WITH 2 SMN2 COPIES (n=5)*
of infants (5/5)* were able to sit without support for at least 5 seconds
of infants (5/5)* were able to sit without support for at least 5 seconds, as measured by BSID-III
TOTAL INFANTS IN STUDY (N=23)*
of infants (23/23) were able to sit without support for at least 5 seconds
91% of infants (21/23)*† were able to sit without support for 30 seconds
of infants (23/23) were able to sit without support for at least 5 seconds, as measured by BSID-III
91% of infants (21/23)*† were able to sit without support for 30 seconds, as measured by BSID-III
As measured by BSID-III, Item 22
These results reflect the impact of Evrysdi alongside an infant’s natural development.
This information is considered exploratory, which means the clinical study was not specifically designed to measure treatment effect at 2 years. Data should be interpreted with caution.
*Excludes 3 infants who withdrew before the Year 2 assessment to receive a one-time disease-modifying treatment.
†For infants with 3 SMN2 copies, the clinical site evaluator results differed from the 2 independent central readers. The clinical site evaluator results were 13/13 infants were able to sit without support for 30 seconds, while the 2 independent central readers’ results were 12/13 infants. For infants with ≥4 SMN2 copies, the clinical site evaluator results differed from the 2 independent central readers. The clinical site evaluator results were 5/5 infants were able to sit without support for 30 seconds, while the 2 independent central readers’ results were 4/5 infants. The 2 independent reader results are reported here.
Evrysdi helped infants sit, stand, or walk independently
AFTER 1 YEAR OF TREATMENT
TOTAL INFANTS IN STUDY (N=26)*
of infants (24/25) were able to sit
of infants (24/25) were able to sit, as measured by HINE-2
of infants (21/25) were able to stand
- 13/25 could stand unaided
- 8/25 could stand with support
of infants (21/25) were able to stand, as measured by HINE-2
- 13/25 could stand unaided
- 8/25 could stand with support
of infants (12/25) were able to walk independently
of infants (12/25) were able to walk independently, as measured by HINE-2
As measured by HINE-2
*One infant could not be assessed for HINE-2 at the 1-year visit.
EXPLORATORY OBSERVATIONS SUGGEST
Two years of treatment with Evrysdi helped infants achieve motor milestones
AFTER 2 YEARS OF TREATMENT
TOTAL INFANTS IN STUDY (N=23)*
of infants (23/23) were able to sit
of infants (22/23) were able to stand
- 21/23 could stand unaided
- 1/23 could stand with support
of infants (20/23)† were able to walk independently
As measured by HINE-2
of infants (23/23) were able to sit, as measured by HINE-2
of infants (22/23) were able to stand, as measured by HINE-2
- 21/23 could stand unaided
- 1/23 could stand with support
of infants (20/23)† were able to walk independently, as measured by HINE-2
These results reflect the impact of Evrysdi alongside an infant’s natural development.
This information is considered exploratory, which means the clinical study was not specifically designed to show a treatment effect on HINE-2 assessments. Data should be interpreted with caution.
*Excludes 3 infants who withdrew before the Year 2 assessment to receive a one-time disease-modifying treatment.
†One child could not be assessed at Year 2.
Evrysdi helped infants survive
AFTER 1 YEAR OF TREATMENT
TOTAL INFANTS IN STUDY (N=26)
of infants (26/26) were alive without permanent support*
Exploratory assessments suggest that after 2 years of treatment (N=23),†
100% of infants (23/23) were alive without permanent support.
This information is considered exploratory, which means the clinical study was not specifically designed to show a treatment effect on survival without permanent support.
Data should be interpreted with caution.
*Permanent support was defined as having a tracheostomy (a surgery where a tube is inserted in the front of the throat into the windpipe) or more than 21 days of either non-invasive ventilation support (16 or more hours a day) or being intubated (a procedure where a breathing tube is inserted down the throat and into the windpipe) to help with breathing, in the absence of an acute reversible event.
†Excludes 3 infants who withdrew before the Year 2 assessment to receive a one-time disease-modifying treatment.
EXPLORATORY OBSERVATIONS SUGGEST
Presymptomatic infants taking Evrysdi were able to feed orally and swallow
AFTER 2 YEARS OF TREATMENT
TOTAL INFANTS IN STUDY (N=23)*
of infants (23/23)
were able to feed exclusively feed orally
of infants (23/23)
were able to swallow
This information is considered exploratory, which means the clinical study was not specifically designed to show a treatment effect on feeding and swallowing. Data should be interpreted with caution.
*Excludes 3 infants who withdrew before the Year 2 assessment to receive a one-time disease-modifying treatment. The 3 infants were able to swallow and feed orally at their last assessments.
Measuring important milestones
The effectiveness of Evrysdi in presymptomatic SMA was observed using 2 measurements
Primary scale:
The Bayley Scales of Infant and Toddler Development–Third Edition (BSID-III) assesses a range of physical abilities, such as sitting, rolling, and crawling.
Additional scale:
The Hammersmith Infant Neurological Examination–Module 2 (HINE-2) assesses 8 developmental milestones for infants, including head control, sitting, voluntary grasp, ability to kick, rolling, crawling, standing, and walking.
Other measurements included:
- Ability to breathe without permanent support*
- Ability to feed orally (exploratory)
- Ability to swallow (exploratory)
*Permanent support was defined as having a tracheostomy (a surgery where a tube is inserted in the front of the throat into the windpipe) or more than 21 days of either non-invasive ventilation support (16 or more hours a day) or being intubated (a procedure where a breathing tube is inserted down the throat and into the windpipe) to help with breathing, in the absence of an acute reversible event.
A closer look at the RAINBOWFISH study
An open-label study in newborns with presymptomatic SMA or infants who have been diagnosed but not yet shown symptoms
Infants were evaluated according to the number of SMN2 copies that they had. Having fewer SMN2 copies generally indicates more severe SMA*
Main measurement
after 1 year of taking Evrysdi:
Sitting without support for at least 5 seconds†
The study included
8 infants with 2 SMN2 copies
26 infants (study total)
younger than 6 weeks at first dose
- The study total included infants with 2 or more SMN2 copies
- As a result, the total population represents a wider range of SMA severity
*SMN2 is a gene that provides instructions for making SMN protein.
†Measured by Item 22 of the Bayley Scales of Infant and Toddler Development–Third Edition (BSID-III).
A guide covering presymptomatic SMA
Get in touch with local support
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Información de prescripción de Evrysdi® (risdiplam). Genentech, Inc.
Información de prescripción de Evrysdi® (risdiplam). Genentech, Inc.
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Atrophy
The medical term for getting smaller, which is generally what happens to muscles when they are not stimulated by nerve cells.
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BSID-III
Stands for the Bayley Scales of Infant and Toddler Development–Third Edition, which is a tool used to assess a range of physical abilities, such as sitting, rolling, and crawling.
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CI
Stands for confidence interval, which shows how much a clinical result is likely to vary.
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DMT
Stands for disease-modifying treatment, which in the case of SMA, stimulates production of SMN2 protein.
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FDA
Stands for Food and Drug Administration.
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G-tube
Stands for gastrostomy tube, which is a tube inserted through the belly that brings nutrition directly to the stomach.
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Gene
The basic unit of heredity passed from parent to child, made up of sequences of DNA (deoxyribonucleic acid). They contain information that leads to the development of physical traits such as hair color.
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GI system
Stands for gastrointestinal system, also called the digestive system, which refers to the group of organs that take in food and liquids and break them down into energy the body can use.
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HINE-2
Stands for Hammersmith Infant Neurological Examination–Module 2, which is a tool used to assess 8 developmental milestones for infants, including head control, sitting, voluntary grasp, ability to kick, rolling, crawling, standing, and walking.
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Investigational
Term used to describe medical treatments that are currently being studied in clinical trials to determine how well they work and how safe they are to take.
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Larynx
Also known as the voice box, is a hollow tube in the middle of the neck, above the windpipe and esophagus. The larynx allows you to breathe and make sounds.
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MFM-32
Stands for Motor Function Measure-32 Items, which is a tool designed to capture changes in head, trunk, and limb motor movements using 32 elements in a broad range of people, including those who cannot walk. It uses 3 main categories: standing/transfer movements, upper/lower body movements, and hand/foot movements.
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Molecule
The smallest particle of a substance, made up of one or more atoms.
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NG-tube
Stands for nasogastric tube, which is a thin, soft tube that goes in through the nose, down the throat, and into the stomach to provide nutrition or medicine to those who cannot consume by mouth.
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Non-invasive
Term used to describe medicines or medical procedures that do not require inserting anything (such as a needle) through the skin or into a body opening.
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Oral
Refers to anything having to do with the mouth.
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PAL
Stands for Partnership and Access Liaison.
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Presymptomatic
When someone has not yet displayed any symptoms but may have underlying presence of the disease, as shown through testing or other means.
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Previously treated
When someone has taken either an approved or investigational medication specifically for SMA in the past.
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Progression
When the symptoms of SMA get worse over time.
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Progressive disease
Any condition that gets worse over time instead of improving.
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Protein
Large, complex molecules that play many important roles in the body, including making up the structure of cells and ensuring proper function of tissues and organs.
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RULM
Stands for Revised Upper Limb Module, which is a tool specifically designed for people 2.5 years and older living with SMA to evaluate strength in arm movements and the ability to perform certain tasks. It includes tests, such as picking up objects, like coins/tokens, tearing paper, raising a cup to the mouth, and opening a plastic container.
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Scoliosis
A sideways curve of the spine. Instead of appearing straight, the spine of a person with scoliosis will have an abnormal S or C shape that leads to their hips or shoulders appearing uneven.
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Sedation
A state of calmness, relaxation, or sleepiness as a result of medications called sedatives. Sedation can be used to help you relax or fall asleep for a medical procedure.
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SMA
Stands for spinal muscular atrophy, which is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement.
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SMN
Stands for survival motor neuron, which is a type of protein that your muscles need to function.
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Spinal cord
A tube of tissue that runs from your brain down to your lower back and acts as an important part of your nervous system. The spinal cord carries nerve signals from your brain to the rest of your body, which allow you to feel sensations such as pressure or pain.
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Type 1 SMA
SMA symptoms that are present at 6 months of age or earlier. This is sometimes called “infantile onset.” Type 1 SMA is characterized by generalized muscle weakness, a weak cry, and muscle distress, often accompanied by failure to meet developmental milestones such as sitting up unassisted.
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Type 2 SMA
SMA symptoms that appear between the ages of 6 to 18 months. People with Type 2 SMA cannot stand or walk without help, but they can sit without support.
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Type 3 SMA
SMA symptoms that appear after 18 months of age. People with Type 3 SMA can walk independently but may have difficulty doing so or performing other movements such as running, rising from a chair, or climbing stairs.