For Patients and Caregivers

FIREFISH

Redefining possibilities for infants with Type 1 SMA1

FIREFISH is a 2-part, open-label trial in infantile-onset spinal muscular atrophy (SMA) studying the safety and efficacy of Evrysdi in 62 infants 2 to 7 months old with Type 1 SMA. Part 1 determined the recommended dose (N=21). Part 2 assessed the efficacy and safety of Evrysdi (N=41). A pooled analysis of 58 infants aged 2 to 7 months received the recommended dose of Evrysdi in Parts 1 and 2. Infants reflected those seen in a real-world setting, including age, disease progression, baseline motor function, and levels of disease severity.1,5,9,28,38

Trial design

Changing the course of SMA1

Infants receiving Evrysdi exceeded expectations for development vs those not on treatment

FIREFISH

Sitting ability as measured by BSID-III, Item 22

Recommended-dose cohort

PART 2 (PRIMARY ENDPOINT)

AFTER 1 YEAR OF
TREATMENT

of infants (12/41)

PARTS 1 AND 2 (POOLED ANALYSIS)

AFTER 1 YEAR OF
TREATMENT

of infants (19/58)

AFTER 2 YEARS OF
TREATMENT

of infants (35/58)

were sitting without support for at least 5 seconds

Part 2 (PRIMARY ENDPOINT)

AFTER 1 YEAR OF TREATMENT

of infants (12/41)

were sitting without support for at least 5 seconds

PARTS 1 AND 2 (POOLED ANALYSIS)

AFTER 1 YEAR OF TREATMENT

of infants (19/58)

were sitting without support for at least 5 seconds

AFTER 2 YEARS OF TREATMENT

of infants (35/58)

were sitting without support for at least 5 seconds

These results indicate a clinically meaningful difference. Based on the natural history of untreated infantile-onset SMA, patients would not be expected to attain the ability to sit independently1

Remarkable achievement of key milestones1

FIREFISH PARTS 1 AND 2
(POOLED ANALYSIS)

Motor milestones after 2 years of treatment

Recommended-dose cohort

of infants (23/58) were sitting without support for 30 seconds, as measured by BSID-III, Item 261

of infants (16/58) were able to stand, as measured by HINE-21

  • 9/58 could stand supporting weight5
  • 7/58 could stand with support5
  • 0/58 could stand unaided5
These results indicate a clinically meaningful difference. Based on the natural history of untreated infantile-onset SMA, patients would not be expected to achieve motor milestones, such as independent sitting, standing, or walking39
  • The Bayley Scales of Infant and Toddler Development–Third Edition (BSID-III) gross motor scale measures achievement of sitting, including Item 22, and other developmental movements in infants1,25
  • Items are scored as either 0 (unable) to 1 (able) compared with the abilities of healthy children25

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.1,40

Evrysdi prolonged survival1

FIREFISH PARTS 1 AND 2
(POOLED ANALYSIS)

All-patients cohort (N=62)*

AFTER 1 YEAR OF TREATMENT

of infants (54/62) were alive without permanent ventilation†

AFTER 2 YEARS OF TREATMENT

of infants (52/62) were alive without permanent ventilation†

Based on the natural history of untreated infantile-onset SMA, no more than 25% of these infants would be expected to reach ≥14 months of age without permanent ventilation1

*All-patients cohort, dose adjusted per protocol. Intent-to-treat population.1

†Permanent ventilation was defined as a tracheostomy or >21 consecutive days of either non-invasive ventilation (≥16 hours per day) or intubation, in the absence of an acute reversible event.1

EXPLORATORY ASSESSMENTS SUGGEST

Infants taking Evrysdi for 5 years achieved key milestones39

FIREFISH PARTS 1 AND 2
(POOLED ANALYSIS)
Motor milestones after 5 years of treatment

Recommended-dose cohort

of infants (36/58)* were sitting without support for at least 5 seconds39

As measured by BSID-III, Item 22

of infants (34/58)* were sitting without support for 30 seconds39

As measured by BSID-III, Item 26

of infants (12/58)* were able to stand

As measured by HINE-25,39

  • 5/58 could stand supporting weight5
  • 3/58 could stand with support39
  • 4/58 could stand unaided39

of infants (36/58)* were sitting without support for at least 5 seconds39

As measured by BSID-III, Item 22

of infants (34/58)* were sitting without support for 30 seconds39

As measured by BSID-III, Item 26

of infants (12/58)* were able to stand

As measured by HINE-25,39

  • 5/58 could stand supporting weight5
  • 3/58 could stand with support39
  • 4/58 could stand unaided39

The above results should be interpreted with caution, as these are exploratory data

*The analyses at Year 1 and Year 5 include the pooled population with children from Part 1 (high-dose cohort, n=17) and all children from Part 2 (n=41). Results at Year 1 (data cut off: November 14, 2019) are based on the assessment of 2 independent central readers, and those at Year 5 (data cut off: December 22, 2023) are based on the assessment of the clinical site evaluator. Any children not assessed were included as non-responders (BSID-III, n=11; HINE-2, n=10).5,39
BSID-III=Bayley Scales of Infant and Toddler Development–Third Edition; HINE-2=Hammersmith Infant Neurological Examination–Module 2.

Survival without permanent ventilation: natural history vs Evrysdi39

Natural history data for infants with Type 1 SMA and 2 SMN2 copies

EXPLORATORY ASSESSMENTS SUGGEST†
FIREFISH PARTS 1 AND 2
(POOLED ANALYSIS)

81% of infants were estimated event-free after 5 years of treatment‡

Recommended-dose cohort (n=58)

Event-free survival results should be interpreted with caution, as these are exploratory data

*Defined as alive and not requiring ≥16 hours/day of non-invasive ventilation support for ≥2 weeks.39
†Data is exploratory, so interpret with caution.
‡Defined as alive with no permanent ventilation. Permanent ventilation was defined as a tracheostomy or >21 consecutive days of either non-invasive ventilation (≥16 hours per day) or intubation, in the absence of an acute reversible event.39
§Of the 11 children who were not deemed ‘event free’, 6 children met the definition of permanent ventilation and 5 had died. One additional child died 3.5 months after withdrawing from treatment and was censored at 22.9 months of age. Additionally, 3 children withdrew from the study, censored at 34.1 months of age, 48.2 months of age, and 63.6 months of age. Another 25 children were censored on completing 5 years of risdiplam treatment before 5.5 years of age.39
As of clinical cut-off date: December 22, 2023.39
SMN2=survival motor neuron 2.

EXPLORATORY ASSESSMENTS SUGGEST

Infants taking Evrysdi had better feeding and swallowing abilities compared with natural history39*

FIREFISH PARTS 1 AND 2
(POOLED ANALYSIS)

AFTER 5 YEARS OF TREATMENT

of infants (42/46) were able to feed orally†

of infants (46/48) were able to swallow†

As of clinical cut-off date: December 22, 2023.

Based on the natural history of untreated infantile-onset SMA, 87% of infants typically require feeding support by 18 months old9

Feeding and swallowing assessments should be interpreted with caution, as these are exploratory data.

*Assessed using nutritional status interview of the parent/caregiver and a standard swallowing assessment based on local practice and performed by a qualified individual. Swallowing assessment was completed at baseline and during follow-up visits. Ability of the patient to swallow age-appropriate foods was assessed.25,28
†These calculations are based on the number of patients assessed for feeding or swallowing at 5 years.39

A 2-part, open-label trial in infantile-onset SMA1,5,38

Establishing the safety and efficacy of Evrysdi in infants 2 to 7 months at enrollment

  • Part 1 determined the recommended dose1
  • In Part 2, the primary endpoint was ability to sit without support for at least 5 seconds, as measured by Item 22 of the BSID-III gross motor scale1
  • In Parts 1 and 2 (pooled analysis), key efficacy endpoints were1: 
    • The ability to sit without support for at least 5 seconds as measured by Item 22 of the BSID-III gross motor scale (recommended-dose cohort; n=58)
    • Survival without permanent ventilation (all-patients cohort; N=62)†

*The first 4 enrollees received a lower dose (titration to target dose of 0.08 mg/kg/day) for 12 months; all other enrollees (n=17) had their dose adjusted to the recommended dose (0.2 mg/kg/day) before 12 months. Efficacy and safety were assessed at 12 months, after which all participants received the recommended dose (0.2 mg/kg/day).38
†Permanent ventilation was defined as a tracheostomy or >21 consecutive days of either non-invasive ventilation (≥16 hours per day) or intubation, in the absence of an acute reversible event.1

Characteristics reflective of real-world patients5,9,28,38

Infants had varying levels of disease severity

FIREFISH PARTS 1 AND 2
Baseline demographics
Recommended-dose cohort (n=58)

Patient characteristics

Median age at onset, months (range)

1.5 (0.9-3.0)

Median age at enrollment, months (range)

5.5 (2.2-6.9)

Median weight, kg (range)

6.6 (4.1-10.6)

Motor function assessment scores

CHOP INTEND, median (range)

23.0 (8.0-37.0)

HINE-2, median (range)

1.0 (0.0-5.0)

Ages, disease progression rate, and baseline motor function reflect those seen in a real-world setting

BSID-III=Bayley Scales of Infant and Toddler Development–Third Edition; CHOP INTEND=Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; HINE-2=Hammersmith Infant Neurological Examination–Module 2.

Learn more about JEWELFISH, an open-label safety trial including adults, children, and infants taking Evrysdi who have received previous treatment with approved or investigational therapies.4
Trial design
Safety
Understanding Evrysdi®️ and SMA support brochure icon

Overview of results from our clinical trial program

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Administering and storing Evrysdi

Non-invasive options to fit your patients’ needs1,21

See more

How Evrysdi works

Increasing SMN protein production throughout the body1

Learn more

Important Safety Information and Indication

Indication

EVRYSDI is indicated for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients.

Interactions with Substrates of MATE Transporters

  • Based on in vitro data, Evrysdi may increase plasma concentrations of drugs eliminated via MATE1 or MATE2-K, such as metformin
  • Avoid coadministration of Evrysdi with MATE (multidrug and toxin extrusion) substrates. If coadministration cannot be avoided, monitor for drug-related toxicities and consider dosage reduction of the coadministered drug if needed

Pregnancy & Breastfeeding

  • Evrysdi may cause embryofetal harm when administered to a pregnant woman. In animal studies, administration of Evrysdi during pregnancy and/or lactation resulted in adverse effects on development. Advise pregnant women of the potential risk to the fetus
  • Pregnancy testing is recommended prior to initiating Evrysdi. Advise female patients to use contraception during treatment with Evrysdi and for at least 1 month after the last dose
  • There is a pregnancy exposure registry that monitors pregnancy and fetal/neonatal/infant outcomes in women exposed to Evrysdi during pregnancy. Physicians are encouraged to register patients and pregnant women are encouraged to register themselves by calling 1-833-760-1098 or visiting https://www.evrysdipregnancyregistry.com.
  • The developmental and health benefits of breastfeeding should be considered along with the mother’s clinical need for Evrysdi and any potential adverse effects on the breastfed infant

Potential Effects on Male Fertility

  • Counsel male patients that fertility may be compromised by treatment with Evrysdi. Male patients may consider sperm preservation prior to treatment

Most Common Adverse Reactions

  • The most common adverse reactions in later-onset SMA (incidence in at least 10% of patients treated with Evrysdi and more frequent than control) were fever, diarrhea, and rash
  • The most common adverse reactions in infantile-onset SMA were similar to those observed in later-onset SMA patients. Additionally, adverse reactions with an incidence of at least 10% were upper respiratory tract infection (including nasopharyngitis, rhinitis), lower respiratory tract infection (including pneumonia, bronchitis), constipation, vomiting, and cough
  • The safety profile for presymptomatic patients is consistent with the safety profile for symptomatic SMA patients treated with Evrysdi in clinical trials

You may report side effects to the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Genentech at 1-888-835-2555.

Please see full Prescribing Information for additional Important Safety Information.

    • Evrysdi® (risdiplam) Prescribing Information. Genentech, Inc.

      Evrysdi® (risdiplam) Prescribing Information. Genentech, Inc.

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    • Data on file. Genentech USA, Inc.

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