UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Clinical Trials

Message to the families about trials and their recruitment

Open-label,single arm, safety study with Olesoxima in SMA (closing)

Multicenter, Open-Label, Single Arm Study to Evaluate Long-term Safety, Tolerability, and Effectiveness of 10 mg/kg Olesoxima in patients with SMA.

Sponsor: Hoffmann-La Roche

The purpose of this study is to evaluate the safety of olesoxima in participants with spinal muscular atrophy, focusing on the nature, frequency, and severity of adverse events, as well as effects on laboratory values, vital signs and ECG parameters.

This study is currently recruiting participants; recruiting centres in Uk are Birmingham, United Kingdom, B9 5SS; London, United Kingdom, WC1N 3JH and Newcastle upon Tyne, United Kingdom, NE1 4LP


This is a double-blind randomized trial to find optimum steroid treatment. The trial will compare 3 corticosteroid regimens to address the pragmatic hypothesis that daily corticosteroids (prednisone or deflazacort) will be of greater benefit in terms of function and subject/parent satisfaction than intermittent corticosteroids (prednisone). This is a multi-centre, double-blind, parallel group, 36-60 month study, comparing three corticosteroid regimens in wide use in DMD: daily prednisone, intermittent prednisone (10 days on, 10 days off), and daily deflazacort.

Recruitment to this study is now closed.

Outcome measures in Duchenne Muscular Dystrophy: a natural history study

This is a natural history study sponsored by the French Muscular Dystrophy Association (AFM) investigating outcome measures in Duchenne muscular dystrophy (DMD). The study started in 2012 and has recruited approximately 100 young people with DMD aged 5-18 years old across five neuromuscular centres in Europe, led by the London site at Great Ormond Street Hospital (GOSH). Newcastle is the other UK site.
The study is collecting information on a set of novel functional outcome measures for children and young adults with DMD to aid the design of clinical trials. Information has been collected for up to 5 years.
The main Outcome Measures study is investigating motor and respiratory functional measures. A sub-study, running in London only since 2017, is investigating measures of brain function, including brain magnetic resonance imaging (MRI) studies and neuropsychology tests, and also novel muscle MRI techniques.
Recruitment for the main study is now closed in London (GOSH) and Newcastle. Recruitment for the Imaging and Neuropsychology study (including brain and muscle MRI) is ongoing at GOSH.


SKIP-NMD - an exon 53 skipping study with a primary objective in part 1 to evaluate the safety and tolerability of four escalating doses of SRP-4053 administered once weekly for at least 2 weeks per dose level compared to placebo and in part 2 to assess the effect of SRP-4053 administered weekly on ambulation, endurance, and muscle function as measured by change from Baseline to Week 48 on the 6-Minute Walk Test (6MWT) compared to untreated control patients .

For more information on this trial visit the web page http://www.skip-nmd.eu/

SHINE. An Open-label Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies.

The primary objective is to evaluate the long-term safety and tolerability of nusinersen (ISIS 396443) administered by intrathecal (IT) injection to participants with Spinal Muscular Atrophy (SMA) who previously participated in investigational studies of nusinersen. The secondary objective is to examine the long-term efficacy of nusinersen administered by IT injection to participants with SMA who previously participated in investigational studies of nusinersen. This drug is an antisense olygonucleotide (ASO) that binds the SMN2 messenger RNA and promotes exon 7 inclusion and thus increases full length SMN expression.
This study was initiated and the protocol was registered by Ionis Pharmaceuticals, Inc. In August 2016, Biogen assumed responsibility for this study.
Actual Study Start Date :    November, 2015
Estimated Study Completion Date :    September, 2023
If you want more information please visit  https://www.clinicaltrials.gov/ct2/show/NCT02594124?term=SHINE&cond=SMA&...

STRIVE: Phase 3, open-label, single-arm, single-dose, trial of AVXS-101 (gene replacement therapy) in patients with spinal muscular atrophy (SMA) Type 1 who meet enrollment criteria and are genetically defined by a biallelic pathogenic mutation of the survival motor neuron 1 gene (SMN1) with one or two copies of survival motor neuron 2 gene (SMN2).

Up to 30 patients < 6 months. The trial includes a screening period, a gene replacement therapy period, and a follow-up period. During the screening period (Days -30 to -2), patients whose parent(s)/legal guardian(s) provide informed consent will complete screening procedures to determine eligibility for trial enrollment. Patients who meet the entry criteria will enter the in-patient gene replacement therapy period (Day -1 to Day 3). On Day -1, patients will be admitted to the hospital for pre-treatment baseline procedures. On Day 1, patients will receive a one-time intravenous (IV) infusion of AVXS-101, and will undergo in-patient safety monitoring over the next 48 hours. Patients may be discharged 48 hours after the infusion, based on Investigator judgment.
Primary outcome measure: Proportion of patients achieving the developmental milestone of sitting without support up to 18 months of age.
Secondary outcome measure: Proportion of patients surviving at 14 months of age.
Actual study start date: August 2018; estimated study competition date: November 2020.
In UK two sites: London (GOSH) and Newcastle are recruiting for this trial.
If you want more information please visit https://www.clinicaltrials.gov/ct2/show/NCT03461289?term=STRIVE&cond=SMA...

INFANT DMD-Sarepta : An Open-label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping

Study of Eteplirsen in Young Patients With DMD Amenable to Exon 51 Skipping. This is a multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, PK, and efficacy of once-weekly IV infusions of eteplirsen in approximately 12 male patients, ages 6 months to 48 months (inclusive), who have genotypically confirmed DMD with a deletion mutation amenable to exon 51 skipping.
Safety and tolerability are the primary outcome measures; pharmacokinetic is the second outcome measure. This drug is an antisense olygonucleotide aimed to skip Exon 51 and to restore the reading frame within the dystrophin gene.
Actual Study Start Date :    August, 2017
Estimated Study Completion Date :    August, 2020
The only site recruiting in UK is GOSH in London
 If you want more information please visit  

GIVINOSTAT : Randomised, double blind, placebo controlled, multicentre study to evaluate the efficacy and safety of Givinostat in ambulant patients with Duchenne Muscular Dystrophy.

Phase 3 study to assess the efficacy of Givinostat orally administered (oral suspension) compared to placebo (ratio 2:1 Givinostat:Placebo)in reducing the motor decline in ambulant patients with Duchenne Muscular Dystrophy (DMD) aged > 6 years at randomization and able to complete 2 Four Stairs Climb test (4SC) within ±1 second of each other and have the mean of the 2 4SC≤8 seconds and have time to rise from floor of <10 seconds at screening.

Other endpoints are the assessment of safety and tolerability and the evaluation of the pharmacokinetic (PK) profile of givinostat and the evaluation of the impact on quality of life and activities of daily living of givinostat versus placebo administered chronically.

The study duration is 19 months: screening period up to 4 weeks, treatment period 18 months.

A total of 192 male ambulant subjects will be randomised and will be stratified according to their current steroid regimen. 40 centres are involved worldwide
UK centres: GOSH (Principal investigator Dr Mariacristina Scoto), Oswestry, Liverpool, Newcastle
For further information please visit: https://clinicaltrials.gov/ct2/show/NCT02851797?recrs=ab&cond=Duchenne+M...

INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X-Linked  Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger

Pre-phase 1 study to evaluate XLMTM subjects over a period of time (minimum of 3 months) prior
to potential enrolment in an Audentes-sponsored interventional study in order to characterize the disease course and natural history of children with XLMTM, with a specific focus on respiratory and neuromuscular measurements and to assess the burden of disease in XLMTM subjects and caregivers.

Study duration is at least 3 months. A total of 16 patients have been recruited from 8 centres worldwide.
Recruitment has been completed in December 2017.

UK centre: GOSH (Principal Investigator Prof. Francesco Muntoni)

If you need further information please visit:

SKIP-E: Long-term, Open-label Extension Study for Patients with Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen (Phase 3)

Patients with Duchenne muscular dystrophy (DMD) who are amenable to treatment by skipping exons 45 or 53 and who have been participating in a clinical trial evaluating casimersen (SRP-4045) or golodirsen (SRP-4053) will be eligible to transfer into this long-term extension (LTE) study.
Patients who are enrolled in a treatment group receiving either casimersen or golodirsen will continue to receive 30 mg/kg of either casimersen or golodirsen once weekly by intravenous (IV) infusion. Patients who are enrolled in a placebo group within their original study will initiate treatment with 30 mg/kg of either casimersen or golodirsen, depending upon their genotype, once weekly by IV infusion starting at Week 1 of this study. Home infusion of the study drug may be available.
Primary objective:
To evaluate the safety and tolerability of long-term treatment with 30 mg/kg of casimersen or golodirsen = Number of Patients With Serious Adverse Events (SAEs) [Time Frame: Up to 30 days after the last infusion of study drug (assessed up to 148 weeks)]
Exploratory objectives:
To evaluate changes in physical function and pulmonary function with long-term treatment with 30 mg/kg of casimersen or golodirsen.

Actual Study Start Date: August 2, 2018
Estimated Study Completion Date: June 30, 2026
UK centres: GOSH (London) and Newcastle
If you need further information please visit:

WAVE:A Multicenter, Double-blind, Placebo-controlled, Phase 1 Study of WVE-210201 Administered Intravenously to Patients with Duchenne Muscular Dystrophy

This is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in male pediatric patients with DMD amenable to exon 51 skipping intervention. Approximately 32 males ≥5 and ≤18 years of age with a genetically confirmed diagnosis of DMD will be enrolled. The study will include a Screening Visit, a Dosing Visit, and Follow-up for approximately 12 weeks (through Day 85 [±3 days]).
Primary objective: Evaluate the safety and tolerability of single ascending doses of WVE-210201 in patients with DMD.
Secondary objective: Assess the pharmacokinetics (PK) of WVE-210201 in patients with DMD.
Actual Study Start Date: January 24, 2018
Estimated study completion date: March, 2019
Current UK recruiting centres: GOSH (London) and Bristol
If you need further information please visit:


SPITFIRE: A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 (BMS-986089) in Ambulatory Boys with Duchenne Muscular Dystrophy (phase 2/3)

This is a multi-center, randomized, double-blind, placebo-controlled study to assess the efficacy, safety and tolerability of two different weekly subcutaneous doses of RO7239361 in ambulatory boys with Duchenne muscular dystrophy (DMD). Eligible participants will be randomized in a 2:1 ratio to receive doses of RO7239361 or placebo (1:1:1 across the three treatment arms). After completion of the 48-week double blind phase, participants may enter the open label phase in which all participants will receive active RO7239361 study drug.
Primary objective: To compare the efficacy of RO7239361 to placebo in ambulatory boys with Duchenne Muscular Dystrophy through the change from baseline in the 4 stair climb velocity at Week 48.
Actual Study Start Date: July 6, 2017
Estimated Study Completion Date: December 17, 2024
Current UK recruiting centres: GOSH (London) and Liverpool
If you want more information please visit:

ESSENCE: Study of SRP-4045 and SRP-4053 in DMD Patients

The main objective of this study is to evaluate the efficacy of the antisense oligonucleotide therapies, SRP-4045 and SRP-4053, compared to placebo in Duchenne muscular dystrophy (DMD) patients with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively.
This is a double-blind, placebo-controlled, multi-centre Phase 3 study to evaluate the efficacy and safety of SRP-4045 and SRP-4053 in ambulant patients aged 7-13 years with eligible mutations. Patients receive weekly intravenous infusions of either treatment drug or placebo for up to 96 weeks, followed by an open label extension period in which all patients will receive open-label active treatment for 48 weeks (up to Week 144 of study).
Outcome measures include clinical efficacy (including functional tests and muscle biopsy), safety (including cardiac measures and blood tests) and pharmacokinetics.
The study will enrol approximately 222 patients, with a planned minimum target of 111 patients amenable to exon 45 skipping and 111 patients amenable to exon 53 skipping. There are currently 64 active sites worldwide. The study started in 2016 and will end in 2023.
For further details please see:

SIDEROS: A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone in Patients with Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids

Phase 3 study to assess the efficacy of the idebenone orally administered compared to placebo (ratio 1:1) in delaying the loss of respiratory function as measured by changes in Forced Vital Capacity percent predicted (FVC %p) using clinic based spirometry, in patients with DMD older than 10 years of age and with a FVC% pred. >35% and <80%, receiving glucocorticoid steroids

Other endpoints are the assessment of safety and tolerability of idebenone and the evaluation of the pharmacokinetics (PK) of idebenone taken at a dose of 300mg t.i.d (900 mg/day).

Study duration: up to 6 weeks screening period; 18 up to 19 months treatment with study medication; 4 weeks follow-up period.

Approximately 50 specialized centres are involved worldwide to reach a recruitment target of 266 patients

UK centres : GOSH (Principal Investigator Dr Pinki Munot) and Queen Square Hospital

For further information please visit: https://clinicaltrials.gov


EmoDe: A study of emotional function in Duchenne muscular dystrophy

The aim of this study is to investigate the emotion system of the brain in DMD, using computer-based and questionnaire-based psychology tests.
The study will enrol 24 boys with DMD and 24 healthy male controls aged 7-12 years old. Recruitment opened in January 2019 and the study will run for 12 months.
Participants will have two visits to GOSH 3 months apart (one visit only for controls) lasting about 2 hours. The study visits will usually be on Wednesdays or Fridays, aiming to coincide where possible with the clinic visits.
For further details please contact a member of the study team:

Miss Andria Papageorgiou: andriani.papageorgiou.14@ucl.ac.uk
Dr Kate Maresh (PI): k.maresh@ucl.ac.uk