Author: Rachael Hansford

Label Extension for Evrysdi®for Infants with SMA Under 2 Months Old

– Evrysdi is the first and only at-home administered treatment for patients living with SMA

– Evrysdi has proven efficacy in babies, children and adults with more than 5,000 patients treated to date

PTC Therapeutics, Inc. announced on May 31st 2022 that the US Food and Drug Administration (FDA) has approved a label extension for Evrysdi® (risdiplam) to include infants under 2 months old with spinal muscular atrophy (SMA). 

The label extension for Evrysdi to include pre-symptomatic infants is the critical next step for intervening as early as possible in treating babies with SMA. Evrysdi treatment allowed almost all of the babies to achieve developmental milestones in a similar timeframe as infants who don’t have SMA. We are proud that such a transformative treatment for SMA will be available to these infants.

Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics.

The approval is based on interim efficacy and safety data from the RAINBOWFISH study in newborns, which showed that pre-symptomatic babies treated with Evrysdi achieved key milestones, such as sitting and standing, with half walking after 12 months of treatment. All infants were alive at 12 months without permanent ventilation. 

Evrysdi is designed to treat SMA by increasing and sustaining the production of the SMN protein, which is found throughout the body and is critical for maintaining healthy motor neurons and movement. Evrysdi was based on PTC’s splicing platform. Evrysdi is marketed by Roche and in the United States by Genentech, a member of the Roche Group. Roche leads the clinical development of Evrysdi as part of a collaboration with the SMA Foundation and PTC Therapeutics.

About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease that can be fatal. It affects approximately 1 in 10,000 babies and when untreated is the leading genetic cause of infant mortality. SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of SMN protein. This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function correctly, leading to progressive muscle weakness over time. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat or breathe can be significantly diminished or lost.

About Evrysdi® (risdiplam)
Evrysdi is a survival motor neuron 2 (SMN2)-directed RNA splicing modifier designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency. Evrysdi is designed to distribute evenly to all parts of the body, including the central nervous system (CNS), and it is administered daily at home in liquid form by mouth or feeding tube. 

Evrysdi is designed to treat SMA by increasing and sustaining the production of the survival motor neuron (SMN) protein in the central nervous system (CNS) and peripheral tissues. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons and movement.

Evrysdi was granted PRIME designation by the European Medicines Agency (EMA) in 2018 and Orphan Drug Designation by the FDA in 2017. In 2021, Evrysdi was awarded Drug Discovery of the Year by the British Pharmacological Society, as well as the Society for Medicines Research Award for Drug Discovery. Evrysdi is currently approved in 81 countries and the dossier is under review in a further 27 countries. Evrysdi is marketed in the United States by Genentech, a member of the Roche Group, and marketed in rest of world by Roche.

NICE recommends Sleepio app for insomnia

Sleepio is recommended as a cost saving option for treating insomnia and insomnia symptoms in primary care for people who would otherwise be offered sleep hygiene or sleeping pills.

Sleepio app image

For people who may be at higher risk of other sleep disorder conditions, such as in pregnancy, or in people with comorbidities, a medical assessment should be done before referral to Sleepio.

More research or data collection is recommended on Sleepio for people who are eligible for face-to-face cognitive behavioural therapy for insomnia (CBT‑I) in primary care. This is because there is limited clinical evidence to show how effective Sleepio is compared with face-to-face CBT‑I. Find out more.

Why NICE made these recommendations

Usual treatment for people with sleep problems is advice about sleep hygiene. Sleeping pills may also be considered if insomnia symptoms are likely to resolve soon. If insomnia symptoms are not likely to resolve soon, best practice is to refer for face-to-face CBT‑I, although its availability in the UK is limited. This clinical pathway is outlined in the British Association for Psychopharmacology (BAP) consensus statement on insomnia. People who may be at higher risk of other sleep disorders including sleep apnoea should have a medical assessment before referral to Sleepio.

Sleepio is a digital self-help programme that includes CBT‑I. It could therefore increase patients’ access to CBT‑I. It also increases the options available to GPs treating insomnia.

Clinical evidence shows that Sleepio reduces insomnia symptoms compared with sleep hygiene and sleeping pills. There is no direct evidence of its effectiveness compared with face-to-face CBT‑I, so further research is recommended in this context.

At a price of £45 per person, Sleepio is cost saving compared with usual treatment in primary care. This is based on an analysis of primary care resource use data before and after Sleepio was introduced in 9 GP practices. Healthcare costs were lower at 1 year, mostly because of fewer GP appointments and sleeping pills prescribed.

Positive CHMP opinion for Upstaza™ for the treatment of AADC deficiency

PTC Therapeutics, Inc. announced on May 20th that Upstaza™ (eladocagene exuparvovec; PTC-AADC) received a positive opinion by the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA). Once ratified by the European Commission, Upstaza will be the first approved disease-modifying treatment for aromatic L-amino acid decarboxylase (AADC) deficiency for patients 18 months and older and the first marketed gene therapy directly infused into the brain. 

We are thrilled with the positive opinion from the CHMP, and are eager to bring Upstaza to patients living with AADC deficiency.Upstaza will be the first marketed gene therapy that is directly administered into the brain, the first gene therapy approved in a major market in several years, the third gene therapy that is on the market now, and only the fourth in vivo gene therapy ever approved. It’s important for the biotech community to have gene therapy products achieving approvals at regulatory bodies, as well as it being an important milestone for PTC that will help us build the gene therapy franchise and grow our revenue base.

Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics

The CHMP opinion is based on the findings of clinical studies conducted in Taiwan. In addition, data from the compassionate use treatment of patients in Europe were included in the application. In the clinical studies, patients went from no display of any motor milestone development to developing clinically meaningful motor skills and neuromuscular function from as early as three months following treatment, with transformational improvements shown to continue up to nine years after treatment.1 Cognitive and communication skills improved in all treated patients.1,2

“The difference Upstaza, a one-time gene therapy, can make is life-changing. AADC deficiency is a devastating neurological disorder with no effective treatment. Before therapy, affected children couldn’t even lift their head, but now many can sit, stand with help, feed themselves and some can walk and talk.” 

Paul Wuh-Liang Hwu, M.D., Ph.D., lead investigator, National Taiwan University Hospital

PTC expects the European Commission to ratify the marketing authorisation for Upstaza under exceptional circumstances in approximately two months. The decision will be applicable to all 27 European Union member states, as well as Iceland, Norway and Liechtenstein. 

About Upstaza™ (eladocagene exuparvovec)

Upstaza, formerly PTC-AADC, is a one-time gene replacement therapy for the treatment of AADC deficiency. It is a recombinant adeno-associated virus serotype 2 (AAV2)-based gene therapy, containing the human DDC gene.1 It is designed to correct the underlying genetic defect, by delivering a functioning DDC gene directly into the putamen, increasing the AADC enzyme and restoring dopamine production.2,3

The efficacy and safety profile of Upstaza has been demonstrated across clinical trials and compassionate use programmes.The first patient was dosed more than 10 years ago. In the clinical trials, Upstaza demonstrated transformational neurological improvements, which have continued for up to nine years following treatment. The most common side effects were initial insomnia, irritability and dyskinesia. The full indication proposed by the CHMP for ratification is: Upstaza is indicated for the treatment of patients aged 18 months and older with a clinical, molecular, and genetically confirmed diagnosis of aromatic L‑amino acid decarboxylase (AADC) deficiency with a severe phenotype.

Administration of Upstaza occurs through a stereotactic surgical procedure, a minimally invasive neurosurgical procedure used for the treatment of a number of paediatric and adult neurological disorders. The Upstaza administration procedure will be performed by a qualified neurosurgeon in a centre specialised in stereotactic neurosurgery.


1 Tai CH, et al. Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency. Mol Ther. 2022;30(2):509-518.

2 Chien et al. AGIL-AADC gene therapy results in sustained improvements in motor and developmental milestones through 5 years in children with AADC deficiency. Poster presented at the 48th Annual Meeting of the Child Neurology Society, Charlotte, NC, USA, Oct 23-26, 2019.

3 Chien YH, et al. Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. Lancet Child Adolesc Health. 2017;1(4):265-273.

A music based walking app for MS?

Biogen is looking to utilise a music-based digital therapeutic to help improve the gait of multiple sclerosis patients who may have difficulty walking.

Developed by MedRhythms, the prescription app aims to do more than simply connect the beat of the music with walking cadence. The US-based company has been working on sensors and rehabilitation software for people with a range of neurological conditions—such as those recovering from stroke as well as Alzheimer’s and Parkinson’s patients—with the goal of retraining the brain and its motor systems.

Sensors attach to the shoes to analyse a person’s gait, while algorithms within the app alter the music’s cues in response to deliver rhythmic auditory stimulation.

MedRhythms has launched two pilot feasibility studies for MR-004, including at the Cleveland Clinic. If successful, a registrational trial will be initiated.

Treating seizures associated with Lennox-Gastaut Syndrome

JAMA Neurology publishes Phase 3 study results on the efficacy and safety of FINTEPLA®▼(fenfluramine) oral solution for the treatment of seizures associated with Lennox-Gastaut Syndrome (LGS)

  • Primary endpoint was met demonstrating that fenfluramine, as adjunctive treatment, is effective in significantly reducing the frequency of drop seizures in LGS patients compared to placebo1
  • LGS is a severe childhood-onset developmental and epileptic encephalopathy characterized by drug-resistant seizures with high morbidity2 
  • Fenfluramine was recently approved by the U.S. Food and Drug Administration (FDA), as a treatment option for the treatment of seizures associated with LGS, a rare and devastating lifelong childhood-onset epilepsy5

UCB, a global biopharmaceutical company, announced on May 2, 2022 the publication in JAMA Neurology of its multi-centre, double-blind, placebo-controlled, parallel-group, randomised Phase 3 trial demonstrating that fenfluramine 0.7 mg/kg/day, when added to a patient’s current anti-epileptic treatment regimen for seizures associated with LGS, is effective in reducing the frequency of drop seizures.1 Drop seizures cause a person to suddenly lose muscle tone, become limp, and fall to the ground, with a high likelihood of injury.6 Within the study, drop seizures were further defined as generalised tonic-clonic (GTC), secondary GTC [focal to bilateral tonic clonic], tonic, atonic, or tonic and atonic.1

LGS is a severe childhood-onset developmental and epileptic encephalopathy characterised by drug-resistant seizures with high morbidity2 as well as serious impairment of neurodevelopmental, cognitive and motor functions.3 LGS has far-reaching effects beyond seizures, including issues with communication, psychiatric symptoms, sleep, behavioral challenges and mobility.7 

The trial met its primary efficacy endpoint. Patients taking fenfluramine 0.7 mg/kg/day experienced an estimated mean difference in the reduction of drop seizure frequency by 19.9% from placebo (P=.001). The median percent reduction in the frequency of drop seizures in the 0.7 mg/kg/day group was 26.5%, compared with 14.2% in the 0.2mg/kg/day group, and 7.6% in patients taking placebo (P=.09). In key secondary outcomes, the trial demonstrated that a greater proportion of patients taking fenfluramine experienced a 50% or greater reduction in drop seizure frequency, compared to patients in the placebo group.1 

“Our trial data and the clinical evidence demonstrate the safety and efficacy of fenfluramine for the treatment of seizures associated with LGS and especially for patients where generalised tonic-clonic seizures are the predominant seizure type, where there is a greater risk of mortality,” said Kelly Knupp, M.D., MSCS, FAES, Associate Professor, Children’s Hospital Colorado, Principal Investigator of the study. “LGS is a highly treatment-resistant developmental and epileptic encephalopathy and we need differentiated treatment options, such as fenfluramine, which has a unique mechanism of action different from and complementary to current seizure medications.”

comorbidities of epilepsy

The study also included seizure-type subgroup analyses that demonstrated that fenfluramine 0.7mg/kg/day was highly effective in reducing the frequency of GTCs in nearly 50% of patients. During the maintenance and titration period, patients experienced a decrease in frequency of 45.7% in the fenfluramine 0.7mg/kg/day group, a decrease in frequency of 58.2% in the 0.2 mg/kg/day fenfluramine group, compared with an increase in frequency of 3.7% in the placebo group (P=.001 and P<.001 respectively). The percentage reduction in tonic or atonic seizure frequency was 46.7% in the fenfluramine 0.7mg/kg/day group, compared with 6.8% in the placebo group (P=.046).1

The reason these data are compelling is because GTCs are commonly observed in patients with LGS.9 Moreover, GTCs may result in bodily injury.10,11 Sudden unexpected death in epilepsy (SUDEP) is a major concern for people living with LGS and patients with a history of GTCs have an estimated 10-fold greater risk of SUDEP.4

Fenfluramine was generally well-tolerated in this study. The most common treatment-emergent adverse events included decreased appetite (22%), somnolence (13%), and fatigue (13%).1 The fenfluramine safety database includes long-term cardiovascular safety data for patients treated for up to three years in DS and LGS.5

“This study further validates the importance of fenfluramine as a new treatment option for seizures associated with LGS, including generalised tonic-clonic seizures,” said Mike Davis, Global Head of Epilepsy, UCB. “Through our close connection with the LGS community, we know the challenges they face go beyond treatment resistant seizures to include difficulty with behavior and cognition, and we hope that fenfluramine can provide relief for people living with LGS.” 

Site investigators and caregivers also rated patients as significantly much or very much improved on the Clinical Global Impression of Improvement (CGI-I) scale (investigators 26% vs. 20% vs. 6% and caregivers 34% vs. 27% vs. 5% for 0.7 mg/kg vs. 0.2 mg/kg vs. placebo, respectively).1 

Fenfluramine was approved by the U.S. Food and Drug Administration (FDA) for the treatment of LGS in patients aged 2 and older in March 2022.5 Fenfluramine was also approved for the treatment of Dravet Syndrome in patients aged 2 and older in June 20205 and by the EU Commission in December 2020 as an add-on treatment for seizures associated with Dravet syndrome in patients aged 2 and older.12 UCB acquired Zogenix, Inc. and FINTEPLA® on March 7, 2022.


  1. Knupp K, Scheffer, I, et al. Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated with Lennox-Gastaut Syndrome: A Randomized Clinical Study. JAMA Neurology. 2022; E1-E11.
  2. Strzelczyk A, Schubert-Bast S. Expanding the Treatment Landscape for Lennox-Gastaut Syndrome: Current and Future Strategies. CNS Drugs. 2021;35(1):61-83. 
  3. Arzimanoglou A, French J, Blume WT, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82-93.
  4. Sveinsson O, Andersson T, Mattsson P, Carlsson S, Tomson T. Clinical risk factors in SUDEP: A  nationwide population-based case-control study. Neurology. 2020;94(4):e419-e429.
  5. FINTEPLA® (fenfluramine) oral solution CIV. U.S. Prescribing Information. March 2022. Available at : Last accessed: April 2022 
  6. Mastrangelo M. Lennox-Gastaut Syndrome: A State of the Art Review. Neuropediatrics. 2017;48(3):143-151.
  7. LGS Foundation. LGS Characteristics and Major Concerns Survey. Accessed April 2022.
  8. UCB Data on file. Zogenix, Inc. bioStrategies Group. 2021.
  9. Cross JH, Auvin S, Falip M, Striano P, Arzimanoglou A. Expert opinion on the management of  Lennox-Gastaut syndrome: treatment algorithms and practical considerations. Front Neurol.  2017;8:505.
  10. Gastaut H, Roger J, Soulayrol R, et al. Childhood epileptic encephalopathy with diffuse slow  spike-waves (otherwise known as “petit mal variant”) or Lennox syndrome. Epilepsia. 1966;7(2):139-179.
  11. Cross JH, Galer BS, Gil-Nagel A, et al. Impact of fenfluramine on the expected SUDEP mortality  rates in patients with Dravet syndrome. Seizure. 2021;93:154-159.
  12. FINTEPLA Summary of Product Characteristics. September 2021. Available at: Last accessed: April 2022 
  13. Zogenix Press Release. Zogenix Submits New Drug Application for FINTEPLA® (Fenfluramine) in Japan for the Treatment of Epileptic Seizures Associated with Dravet Syndrome. 21 December 2021. Available at:,fenfluramine)%20for%20the%20treatment%20of. Last accessed: April 2022 
  14. Zogenix Press Release. Zogenix Submits Type II Variation Application to the European Medicines Agency (EMA) to Expand the Use of FINTEPLA® (fenfluramine) for the Treatment of Seizures Associated with Lennox-Gastaut Syndrome. 20 December 2021. Available at: Last accessed: April 2022. 

Please see full Prescribing Information, including Boxed Warning, for additional important information on FINTEPLA.

Refer to the European Summary of Product Characteristics for other adverse reactions and full prescribing information. Date of revision: 04 Nov 2021.

▼ This medicinal product is subject to additional monitoring. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse reactions. 

NMOSD trial success

ULTOMIRIS® (ravulizumab-cwvz) Met Primary Endpoint in CHAMPION-NMOSD (Neuromyelitis Optica Spectrum Disorder) Phase III Trial

Positive high-level results from the open-label Phase III CHAMPION-NMOSD trial showed that ULTOMIRIS®(ravulizumab-cwvz) achieved a statistically significant and clinically meaningful reduction in the risk of relapse in adults with anti-aquaporin-4 (AQP4) antibody-positive (Ab+) neuromyelitis optica spectrum disorder (NMOSD) compared to the external placebo arm from the pivotal SOLIRIS®PREVENTclinical trial.

ULTOMIRIS, the first and only long-acting C5 complement inhibitor, met the primary endpoint of time to first on-trial relapse, as confirmed by an independent adjudication committee. Notably, no relapse was observed in 58 patients over a median treatment duration of 73 weeks.

NMOSD is a rare and devastating autoimmune disease that affects the central nervous system (CNS), including the spine and optic nerves.1-3 Most people living with NMOSD often experience unpredictable relapses, a new onset of neurologic symptoms or worsening of existing neurologic symptoms, also referred to as attacks, which tend to be severe and recurrent and may result in permanent disability.4-6

Every NMOSD relapse can have debilitating and irreversible consequences, so reducing relapses is critical. Patients on ULTOMIRIS remained relapse free over a median treatment duration of 73 weeks in the trial.

Sean J. Pittock, MD, Director of Mayo Clinic’s Center for Multiple Sclerosis and Autoimmune Neurology and of Mayo’s Neuroimmunology Laboratory and lead primary investigator in the CHAMPION-NMOSD trial

Marc Dunoyer, Chief Executive Officer, Alexion, said: “SOLIRISestablished the role of complement inhibition in preventing relapses in NMOSD, and with ULTOMIRISwe continue to innovate for patients with a more convenient every eight-week dosing schedule. These trial results show that ULTOMIRIS may help patients move towards eliminating relapses, which is an important advancement in the treatment of NMOSD.”

The safety and tolerability of ULTOMIRIS in the Champion-NMOSD trialwere consistent with previous clinical studies and other approved indications. Fifty-six patients are continuing to receive treatment in a long-term extension period, which is ongoing.

The data will be presented and submitted to global health authorities as rapidly as possible to bring forward ULTOMIRIS to the NMOSD community.


  1. Wingerchuk DM, Lennon VA, Lucchinetti CF, Pittock SJ, Weinshenker BG. The spectrum of neuromyelitis optica. Lancet Neurol. 2007;6(9):805-815.
  2. Wingerchuk DM. Diagnosis and treatment of neuromyelitis optica. Neurologist. 2007;13(1):2-11.
  3. Hamid SHM, Whittam D, Mutch K et al. What proportion of AQP4-IgG-negative NMO spectrum disorder patients are MOG-IgG positive? A cross sectional study of 132 patients. J Neurol. 2017;264(10):2088-2094.
  4. Wingerchuk DM, Weinshenker BG. Neuromyelitis optica. Curr Treat Options Neurol. 2008;10(1):55-66.
  5. Kitley J, Leite MI, Nakashima I, et al. Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan. Brain. 2012;135(6):1834-1849.
  6. Jarius S, Ruprecht K, Wildemann B, et al. Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: a multicentre study of 175 patients. J Neuroinflamm. 2012;9:14.
  7. Wingerchuk DM, Hogancamp WF, O’Brien PC, Weinshenker BG. The clinical course of neuromyelitis optica (Devic’s syndrome). Neurology. 1999;53(5):1107-1114.
  8. Papadopoulos MC, Bennett JL, Verkman AS. Treatment of neuromyelitis optica: state-of-the-art and emerging therapies. Nat Rev Neurol. 2014;10(9):493.
  9. Cossburn, M., et al. (2012). The Prevalence of Neuromyelitis Optica in South East Wales.” Eur J Neurol., 19(4): 655-659.
  10. Takata K, Matsuzaki T, Tajika Y. Aquaporins: water channel proteins of the cell membrane. Prog Histochem Cytochem. 2004;39(1):1-83.
  11. Mori M, Kuwabara S, Paul F. Worldwide prevalence of neuromyelitis optica spectrum disorders. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):555-556. doi: 10.1136/jnnp-2017-317566. Epub 2018 Feb 7. PMID: 29436488.
  12. Quek AML, Mckeon A, Lennon VA et al. Effects of age and sex on aquaporin-4 autoimmunity. Arch Neurol 2012 and 69:1039–43.
  13. Tüzün E, Kürtüncü M, Türkoğlu R, et al. Enhanced complement consumption in neuromyelitis optica and Behcet’s disease patients. J Neuroimmunol. 2011;233(1-2):211-215.
  14. Kuroda H, Fujihara K, Takano R, et al. Increase of complement fragment C5a in cerebrospinal fluid during exacerbation of neuromyelitis optica. J Neuroimmunol. 2013;254(1-2):178-182.
  15. Jarius, S., Wildemann, B. (2013). The History of Neuromyelitis Optica. J Neuroinflammation 10, 797.
  16. Mealy, M. A., et al. (2019). Assessment of Patients with Neuromyelitis Optica Spectrum Disorder Using the EQ-5D. International journal of MS care, 21(3), 129–134.
  17. An Efficacy and Safety Study of Ravulizumab in Adult Participants With NMOSD. NCT Identifier: NCT04201262. Available online. Accessed April 2022.

New Three-Year Data for Genentech’s Evrysdi (risdiplam)

Long-term improvements in survival and motor milestones in babies with Type 1 Spinal Muscular Atrophy (SMA)

– 91% of infants treated with Evrysdi in the FIREFISH study were still alive at three years –

– Infants treated with Evrysdi maintained or continued to improve in measures of motor function, including their ability to sit without support for 5 and 30 seconds –

– Evrysdi has proven efficacy in infants and adults, with more than 5,000 patients treated to date –

Genentech, a member of the Roche Group, announced 29 April 2022 new three-year data from the FIREFISH study, including one-year data from the open label extension, reinforcing the long-term efficacy and safety of Evrysdi® (risdiplam) in infants with symptomatic Type 1 spinal muscular atrophy (SMA). The data showed an estimated 91% of infants (n=58) treated with Evrysdi were alive after three years of treatment. The Evrysdi-treated infants continued to improve or maintain motor functions, including the ability to swallow, sit without support, stand with support and walk while holding on, between two and three years of treatment. Without treatment, children with Type 1 SMA are never able to sit without support. The study also showed overall continued reductions in serious adverse events (SAEs) and hospitalisations over time.

“These long-term results in babies treated with Evrysdi are very encouraging, with the vast majority improving or maintaining motor functions after three years. Without treatment, they would typically not survive beyond two years of age

The FIREFISH study evaluated the efficacy and safety of Evrysdi in infants aged 1-7 months at the time of enrollment with Type 1 SMA. The study was in two parts, with Part 1 being the dose-finding period and Part 2 evaluating the efficacy and safety at the dose selected in Part 1. The pooled population includes participants treated with Evrysdi at the approved dose for a minimum of three years. These long-term data was presented at the 14th European Paediatric Neurology Society (EPNS) Congress, April 28 – May 2, 2022.

“These long-term results in babies treated with Evrysdi are very encouraging, with the vast majority improving or maintaining motor functions after three years. Without treatment, they would typically not survive beyond two years of age,” said Levi Garraway, M.D., Ph.D., Genentech’s chief medical officer and head of Global Product Development. “Support for the compelling efficacy of Evrysdi continues to grow for a broad range of people, including infants with one of the most severe forms of SMA.”

Infants treated with Evrysdi maintained or continued to improve in their ability to sit without support between 24-36 months. Among the infants with an available assessment (n=48) treated with Evrysdi, 32 infants maintained and 4 gained the ability to sit without support for at least 5 seconds since month 24, as assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III). In addition, 20 infants maintained and 15 gained the ability to sit without support for at least 30 seconds. No infant who gained the ability to sit without support lost this ability after three years of treatment. The majority of infants treated with Evrysdi maintained the ability to feed orally and swallow up to month 36.

Most of the infants treated with Evrysdi continued to improve or maintain measures of the Hammersmith Infant Neurological Examination 2 (HINE-2) between 24-36 months, including being able to hold their heads upright (36 maintained, 3 gained and none lost the ability since month 24), pivot while sitting (15 maintained, 11 gained and none lost the ability), stand with support (6 maintained, 5 gained and 1 lost the ability) and walk while holding on (1 maintained, 2 gained and none lost the ability).

The most common adverse events (AEs) were pyrexia (60%), upper respiratory tract infection (57%), pneumonia (43%), constipation (26%), nasopharyngitis (24%), diarrhea (21%), rhinitis (19%), vomiting (19%) and cough (17%). The most common SAEs were pneumonia (36%), respiratory distress (10%), viral pneumonia (9%), acute respiratory failure (5%) and respiratory failure (5%). The rate of AEs, including pneumonia, continued to decrease over time. The rate of SAEs similarly decreased, with a reduction of approximately 50% after each 12-month treatment period and a 78% reduction between the first and third year of treatment. All AEs and SAEs reported were reflective of the underlying disease and there were no treatment-related AEs leading to withdrawal or treatment discontinuation. The rate of hospitalisations decreased from 1.24 hospitalisations per patient year over 12 months to 0.70 hospitalisations over 36 months. No additional deaths have occurred since the primary analysis of FIREFISH, up to the data cut-off of this analysis (November 23, 2021).

Genentech leads the clinical development of Evrysdi as part of a collaboration with the SMA Foundation and PTC Therapeutics.

Full Prescribing Information

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercialises medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit

Keto diet improved life quality of RRMS patients in trial

Eating a ketogenic diet — one low in carbohydrates and high in fats — led to less fatigue and depression for people with relapsing-remitting multiple sclerosis (RRMS) in a small clinical trial that was designed to assess the tolerability of the dietary intervention.

Measures of disability and quality of life also improved during the study while participants were eating a ketogenic diet. Overall, these results support future research to explore the effectiveness of the ketogenic diet in multiple sclerosis (MS), though researchers stressed there is not yet enough evidence to recommend this diet for MS patients outside of closely monitored clinical trials.

Results of the trial were presented at the 2022 annual meeting of the American Academy of Neurology. Full data are now reported in the Journal of Neurology, Neurosurgery and Psychiatry, in the “Phase II study of ketogenic diets in relapsing multiple sclerosis: safety, tolerability and potential clinical benefits.”

The Phase 2 trial (NCT03718247), which was sponsored by the University of Virginia, included 64 people with RRMS. Two of the participants were teenagers (ages 15 and 17); the rest were adults. The majority of participants were female and white. During the trial, participants were instructed to eat a ketogenic diet for six months.

Read more at MS News Today.

NfL test for multiple sclerosis

Quanterix Granted Breakthrough Device Designation from U.S. FDA

Blood-based assay has the potential to serve the multiple sclerosis (MS) community in management of relapsing-remitting form of the disease

April 22, 2022 08:30 AM Eastern Daylight Time: Quanterix Corporation, a company digitising biomarker analysis with the goal of advancing the science of precision health, announced that its Simoa® neurofilament light chain (NfL) plasma test has been granted Breakthrough Device designation by the U.S. Food and Drug Administration (FDA) as a prognostic aid in assessing the risk of disease activity in patients diagnosed with relapsing-remitting MS (RRMS).

The FDA’s Breakthrough Device designation is granted to products that have the potential to offer more effective diagnosis or treatment of life-threatening diseases with an unmet medical need. The programme is designed to enable accelerated development, assessment and review processes, with the intention to provide patients with more timely access to breakthrough technologies or devices. However, Breakthrough Device designation does not guarantee that the FDA review and approval process will be shortened or that an application will be approved.

The Quanterix Simoa® NfL test is a digital immunoassay that quantitatively measures NfL in human serum and plasma and shows promise to be used in conjunction with clinical, imaging and laboratory findings as an aid in identifying RRMS patients who are at lower or higher risk for relapse within four years. This prognostic information could be useful in tailoring the therapeutic approach to more effectively treat the disease.

The designation comes on the heels of a large-scale, international study published in The Lancet Neurology, in which researchers from the University Hospital Basel and University of Basel leveraged Quanterix’ ultra-sensitive Simoa® technology to help establish a new method for clinicians to identify and interpret elevated values of sNfL in individual MS patients. Along with this research, the Simoa® NfL assay was referenced in at least 20 studies presented at the American Academy of Neurology (AAN) 74th Annual Meeting, further validating the biomarker’s potential utility.

“There has been an ever-growing body of research with the Simoa® NfL blood test supporting NfL as a reliable biomarker for MS disease activity prognosis and treatment response monitoring,” said Dr. Mark S. Freedman, Professor of Neurology and Director of Multiple Sclerosis Research at the Ottawa Hospital.

The FDA’s grant of Breakthrough Device designation for this test has the potential to help the multiple sclerosis community further advance the optimal use of NfL measurements in both research and clinical practice aimed at more effective therapeutic management of the disease for the millions of patients suffering from the condition.

Dr. Mark S. Freedman, Professor of Neurology and Director of Multiple Sclerosis Research at the Ottawa Hospital

This is the second test from Quanterix to receive Breakthrough Device status – the company’s phospho-Tau 181 (pTau-181) assay for Alzheimer’s disease received the designation in 2021.

To learn more about Quanterix’ Simoa® technology, visit: