Duchenne Muscular DystrophyPhase 1/2AVANCE1NCT05753462
Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy
A Phase 1/2 study testing Phase 1, SQY51, Phase 2a, SQY51 (cohort 1) and Phase 2a, SQY51 (cohort 2) in people with Duchenne Muscular Dystrophy, run by Sqy Therapeutics at 1 site in France.
Trial summary
This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy Read more about this study
- Who is it for?
- Ages 6 years and older, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy
- What is being tested?
- Phase 1, SQY51, Phase 2a, SQY51 (cohort 1) and Phase 2a, SQY51 (cohort 2)
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 1 siteFrance
- Study dates
- 26 Apr 2023to Feb 2025
- Phase
- Phase 1/2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Boys of ≥6 years of age and ≥ 16 kg body weight.
- Ambulatory or non-ambulatory status,
- Patients and, if minor, their legal guardians, who are willing and able to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.
- Diagnosed with Duchenne Muscular Dystrophy (DMD), genotypically confirmed with DMD mutations amenable to exon-51 skipping.
- Stable hepatic and renal function.
- Left ventricular ejection fraction (LVEF) at screening ≥40%.
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- If clinically indicated, approved concomitant treatment within standards of care guidelines for DMD, such as antihypertensive, vasodilators, lipid lowering, thyroid replacement, vitamins, mineral substitution, gastric protectors, and nutritional supplements.
- Non-invasive mechanical ventilation is permissive if < 16 h/day.
- Being affiliated with a French social security.
- Informed consent form signed by the patient or, if minor, by the legal guardian(s).
- Patients must have completed Phase 1 of the study.
Who cannot join
- Patient with any serious medical/surgical or psychiatric condition/illness/history that in the opinion of the investigator would jeopardize patient's safety or would interfere with the study assessments/results, including insufficient vaccination against infectious diseases as recommended by national guidelines, medical history of infection with Hepatitis B,C and HIV.
- Patient with any known allergies to products likely to be used in the study (e.g., antiseptics, anesthetics), known hypersensitivity to any of the ingredients, or excipients of the study drug).
- Patient who participated in other investigational study within the last three months, including those with investigational drugs that aim at restoring dystrophin expression such as other antisense oligomers.
- Patient that received gene therapy.
- Patient with intellectual disability or behavioral problem such that they cannot comply with the study procedure.
- Patient with advanced cardiomyopathy and LVEF < 40%. Patients with dysrhythmias and being treated for dysrhythmias. Patients with non-treated tachycardia.
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- Patient for which orthopedic surgery is planned during the time of the study.
- Tracheostomized patients and dependent on invasive mechanical ventilation. Non-invasive mechanical ventilation ≥ 16 h/day. Predicted vital forced capacity < 20%. Medical history with more than two respiratory decompensations requiring hospitalization during the previous year. No respiratory decompensation in the four months preceding enrolment.
- Patients on medications that can restore dystrophin expression, tamoxifen and other drugs without indication for DMD or paediatric population.
- Abnormal laboratory values in the clinically significant range.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Hôpital Raymond Poincaré
Garches, 92380
Helge Amthor, MD, PhD, 01 47 10 71 07, helge.amthor@aphp.fr
Helge Amthor, MD, PhD
About this study
Official title: Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, PK and PD of SQY51 in Paediatric and Adult Patients With a Genetically Confirmed Diagnosis of Duchenne Muscular Dystrophy
This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy
Read the detailed description
Avance1 is a Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of SQY51 in 12 patients with a genetically confirmed diagnosis of Duchenne muscular dystrophy, This study will include i) 13-week Phase 1 Multiple Dose Escalation Phase, and a ii) 32-week Phase 2a.
Twelve (12) patients ≥ 6 years, both ambulant and non-ambulant, will be sequentially enrolled in phase 1 and will receive escalating doses of SQY51 once every two weeks. In phase 2a, patients will be allocated in three cohorts in a non-randomized manner.
On the 25th March 2024, SQY Therapeutics received the authorization from the European Medicines Agency (EMA) to initiate the Phase 2a clinical trial. All the patients involved in the Phase 1 will progress to the Phase 2a.
- Conditions
- Duchenne Muscular Dystrophy
- Being tested
- Phase 1, SQY51, Phase 2a, SQY51 (cohort 1), Phase 2a, SQY51 (cohort 2), Phase 2a, SQY51 (cohort 3)
- Keywords
- Duchenne Muscular Dystrophy, Duchenne, Dystrophin, DMD, Exon skipping, Exon 51, ASO therapeutics, Tricyclo-DNA
- Medical subject headings
- Muscular Dystrophy, Duchenne
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Phase 1, SQY51Drug
SQY51 is administered by intravenous infusion.
Phase 2a, SQY51 (cohort 1)Drug
SQY51 is administered by intravenous infusion at dose 1
Phase 2a, SQY51 (cohort 2)Drug
SQY51 is administered by intravenous infusion at dose 2.
Phase 2a, SQY51 (cohort 3)Drug
SQY51 is administered by intravenous infusion at dose 3.
| Study group | Role | What they receive |
|---|---|---|
| Phase 1 | Experimental | Participants will receive single escalating doses of 2, 4, 6, 10, 16 and 25 mg/kg by intravenous infusion of SQY51 every 2 weeks. Receives: Drug: Phase 1, SQY51 |
| Phase 2a - Treatment arm (Dose 1) | Experimental | Non randomized participants will receive by IV dose 1 of SQY51 in 4 blocks of 4-weeks. Receives: Drug: Phase 2a, SQY51 (cohort 1) |
| Phase 2a - Treatment arm (Dose 2) | Experimental | Non randomized participants will receive by IV dose 2 of SQY51 in 4 blocks of 4-weeks. Receives: Drug: Phase 2a, SQY51 (cohort 2) |
| Phase 2a - Treatment arm (Dose 3) | Experimental | Non randomized participants will receive by IV dose 3 of SQY51 in 4 blocks of 4-weeks. Receives: Drug: Phase 2a, SQY51 (cohort 3) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of AEs in all participants
Measured: From baseline up to week 49
Secondary outcomes (3)
Pharmacokinetic plasma concentration of SQY51 (µg/ml)
Measured: From baseline up to week 49
Change from baseline in time to rise from floor, time to complete 1-min, 6-min and 10-min walk in ambulant patients as well as MFM and PUL scores in both ambulant and non-ambulant patients
Measured: From baseline up to week 49
Changes from baseline in skeletal muscle dystrophin expression
Measured: From baseline up to week 49
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Mar 2023
- Study start26 Apr 2023
- Primary completionFeb 2025 (estimated)
- Study completionFeb 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (33)Papers the sponsor has linked to this study.
- Other trials for Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sqy Therapeutics
- Sponsor type
- University, hospital or other
- Collaborators
- Biotrial
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05753462
- Sponsor's protocol ID
- AVANCE1-1/2a
- Other IDs
- 2022-500703-49-01
- Acronym
- AVANCE1
- Status last verified
- Mar 2024
- First submitted
- 6 Feb 2023
- Last updated
- 1 Apr 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloglu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Beroud C, Lochmuller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.
PubMed 23913485Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017 Apr 26;12(1):79. doi: 10.1186/s13023-017-0631-3.
PubMed 28446219Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528.
PubMed 22451200Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013 Oct;21(10):1049-53. doi: 10.1038/ejhg.2012.301. Epub 2013 Jan 23.
PubMed 23340516McDonald CM, Henricson EK, Abresch RT, Han JJ, Escolar DM, Florence JM, Duong T, Arrieta A, Clemens PR, Hoffman EP, Cnaan A; Cinrg Investigators. The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve. 2013 Jul;48(1):32-54. doi: 10.1002/mus.23807. Epub 2013 May 16.
PubMed 23677550Li D, Mastaglia FL, Fletcher S, Wilton SD. Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping. Trends Pharmacol Sci. 2018 Nov;39(11):982-994. doi: 10.1016/j.tips.2018.09.001. Epub 2018 Sep 30.
PubMed 30282590Echevarria L, Aupy P, Goyenvalle A. Exon-skipping advances for Duchenne muscular dystrophy. Hum Mol Genet. 2018 Aug 1;27(R2):R163-R172. doi: 10.1093/hmg/ddy171.
PubMed 29771317Goyenvalle A, Griffith G, Babbs A, El Andaloussi S, Ezzat K, Avril A, Dugovic B, Chaussenot R, Ferry A, Voit T, Amthor H, Buhr C, Schurch S, Wood MJ, Davies KE, Vaillend C, Leumann C, Garcia L. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. Nat Med. 2015 Mar;21(3):270-5. doi: 10.1038/nm.3765. Epub 2015 Feb 2.
PubMed 25642938Renneberg D, Leumann CJ. Watson-Crick base-pairing properties of tricyclo-DNA. J Am Chem Soc. 2002 May 29;124(21):5993-6002. doi: 10.1021/ja025569+.
PubMed 12022832Ittig D, Gerber AB, Leumann CJ. Position-dependent effects on stability in tricyclo-DNA modified oligonucleotide duplexes. Nucleic Acids Res. 2011 Jan;39(1):373-80. doi: 10.1093/nar/gkq733. Epub 2010 Aug 17.
PubMed 20719742Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3.
PubMed 29395989Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3.
PubMed 29395990Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Colvin MK, Cripe L, Herron AR, Kennedy A, Kinnett K, Naprawa J, Noritz G, Poysky J, Street N, Trout CJ, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-455. doi: 10.1016/S1474-4422(18)30026-7. Epub 2018 Feb 2.
PubMed 29398641McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17.
PubMed 28728956Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J, Malik V, Shontz K, Walker CM, Flanigan KM, Corridore M, Kean JR, Allen HD, Shilling C, Melia KR, Sazani P, Saoud JB, Kaye EM; Eteplirsen Study Group. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol. 2013 Nov;74(5):637-47. doi: 10.1002/ana.23982. Epub 2013 Sep 10.
PubMed 23907995
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, PK and PD of SQY51 in Paediatric and Adult Patients With a Genetically Confirmed Diagnosis of Duchenne Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT05753462
- Acronym / sponsor ID
- AVANCE1 / AVANCE1-1/2a
- Conditions
- Duchenne Muscular Dystrophy
- Keywords
- Duchenne Muscular Dystrophy, Duchenne, Dystrophin, DMD, Exon skipping, Exon 51, ASO therapeutics, Tricyclo-DNA
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- Sqy TherapeuticsUniversity, hospital or other
- Collaborators
- Biotrial
- Study start
- 26 Apr 2023 (actual)
- Primary completion
- Feb 2025 (estimated)
- Study completion
- Feb 2025 (estimated)
- First posted
- 3 Mar 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy
Detailed description
Avance1 is a Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of SQY51 in 12 patients with a genetically confirmed diagnosis of Duchenne muscular dystrophy, This study will include i) 13-week Phase 1 Multiple Dose Escalation Phase, and a ii) 32-week Phase 2a.
Twelve (12) patients ≥ 6 years, both ambulant and non-ambulant, will be sequentially enrolled in phase 1 and will receive escalating doses of SQY51 once every two weeks. In phase 2a, patients will be allocated in three cohorts in a non-randomized manner.
On the 25th March 2024, SQY Therapeutics received the authorization from the European Medicines Agency (EMA) to initiate the Phase 2a clinical trial. All the patients involved in the Phase 1 will progress to the Phase 2a.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Phase 1 | Experimental | Drug: Phase 1, SQY51Participants will receive single escalating doses of 2, 4, 6, 10, 16 and 25 mg/kg by intravenous infusion of SQY51 every 2 weeks. |
| Phase 2a - Treatment arm (Dose 1) | Experimental | Drug: Phase 2a, SQY51 (cohort 1)Non randomized participants will receive by IV dose 1 of SQY51 in 4 blocks of 4-weeks. |
| Phase 2a - Treatment arm (Dose 2) | Experimental | Drug: Phase 2a, SQY51 (cohort 2)Non randomized participants will receive by IV dose 2 of SQY51 in 4 blocks of 4-weeks. |
| Phase 2a - Treatment arm (Dose 3) | Experimental | Drug: Phase 2a, SQY51 (cohort 3)Non randomized participants will receive by IV dose 3 of SQY51 in 4 blocks of 4-weeks. |
Who may qualify
- Ages
- 6 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (11 listed)
- Boys of ≥6 years of age and ≥ 16 kg body weight.
- Ambulatory or non-ambulatory status,
- Patients and, if minor, their legal guardians, who are willing and able to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.
- Diagnosed with Duchenne Muscular Dystrophy (DMD), genotypically confirmed with DMD mutations amenable to exon-51 skipping.
- Stable hepatic and renal function.
Key exclusion criteria (10 listed)
- Patient with any serious medical/surgical or psychiatric condition/illness/history that in the opinion of the investigator would jeopardize patient's safety or would interfere with the study assessments/results, including insufficient vaccination against infectious diseases as recommended by national guidelines, medical history of infection with Hepatitis B,C and HIV.
- Patient with any known allergies to products likely to be used in the study (e.g., antiseptics, anesthetics), known hypersensitivity to any of the ingredients, or excipients of the study drug).
- Patient who participated in other investigational study within the last three months, including those with investigational drugs that aim at restoring dystrophin expression such as other antisense oligomers.
- Patient that received gene therapy.
- Patient with intellectual disability or behavioral problem such that they cannot comply with the study procedure.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Phase 1, SQY51SQY51 is administered by intravenous infusion. | Drug | Phase 1 |
| Phase 2a, SQY51 (cohort 1)SQY51 is administered by intravenous infusion at dose 1 | Drug | Phase 2a - Treatment arm (Dose 1) |
| Phase 2a, SQY51 (cohort 2)SQY51 is administered by intravenous infusion at dose 2. | Drug | Phase 2a - Treatment arm (Dose 2) |
| Phase 2a, SQY51 (cohort 3)SQY51 is administered by intravenous infusion at dose 3. | Drug | Phase 2a - Treatment arm (Dose 3) |
Primary outcome
Incidence of AEs in all participants
Time frame: From baseline up to week 49
3 secondary outcomes
Pharmacokinetic plasma concentration of SQY51 (µg/ml)
Time frame: From baseline up to week 49
Change from baseline in time to rise from floor, time to complete 1-min, 6-min and 10-min walk in ambulant patients as well as MFM and PUL scores in both ambulant and non-ambulant patients
Time frame: From baseline up to week 49
Changes from baseline in skeletal muscle dystrophin expression
Time frame: From baseline up to week 49
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2024.
- Background: PubMed 23913485Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloglu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Beroud C, Lochmuller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.
- Background: PubMed 28446219Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017 Apr 26;12(1):79. doi: 10.1186/s13023-017-0631-3.
- Background: PubMed 22451200Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol. 2012 Mar;71(3):304-13. doi: 10.1002/ana.23528.
- Background: PubMed 23340516Moat SJ, Bradley DM, Salmon R, Clarke A, Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet. 2013 Oct;21(10):1049-53. doi: 10.1038/ejhg.2012.301. Epub 2013 Jan 23.
- Background: PubMed 23677550McDonald CM, Henricson EK, Abresch RT, Han JJ, Escolar DM, Florence JM, Duong T, Arrieta A, Clemens PR, Hoffman EP, Cnaan A; Cinrg Investigators. The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve. 2013 Jul;48(1):32-54. doi: 10.1002/mus.23807. Epub 2013 May 16.
- Background: PubMed 30282590Li D, Mastaglia FL, Fletcher S, Wilton SD. Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping. Trends Pharmacol Sci. 2018 Nov;39(11):982-994. doi: 10.1016/j.tips.2018.09.001. Epub 2018 Sep 30.
- Background: PubMed 29771317Echevarria L, Aupy P, Goyenvalle A. Exon-skipping advances for Duchenne muscular dystrophy. Hum Mol Genet. 2018 Aug 1;27(R2):R163-R172. doi: 10.1093/hmg/ddy171.
- Background: PubMed 25642938Goyenvalle A, Griffith G, Babbs A, El Andaloussi S, Ezzat K, Avril A, Dugovic B, Chaussenot R, Ferry A, Voit T, Amthor H, Buhr C, Schurch S, Wood MJ, Davies KE, Vaillend C, Leumann C, Garcia L. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. Nat Med. 2015 Mar;21(3):270-5. doi: 10.1038/nm.3765. Epub 2015 Feb 2.
- Background: PubMed 12022832Renneberg D, Leumann CJ. Watson-Crick base-pairing properties of tricyclo-DNA. J Am Chem Soc. 2002 May 29;124(21):5993-6002. doi: 10.1021/ja025569+.
- Background: PubMed 20719742Ittig D, Gerber AB, Leumann CJ. Position-dependent effects on stability in tricyclo-DNA modified oligonucleotide duplexes. Nucleic Acids Res. 2011 Jan;39(1):373-80. doi: 10.1093/nar/gkq733. Epub 2010 Aug 17.
- Background: PubMed 29395989Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3.
- Background: PubMed 29395990Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3.
- Individual participant dataSharing planned: No
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Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function
Becker Muscular Dystrophy
Enrolling by invitationObservational study
A Long-term Observational Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice
Duchenne Muscular Dystrophy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Phase 1, SQY51, Phase 2a, SQY51 (cohort 1) and Phase 2a, SQY51 (cohort 2) in people with Duchenne Muscular Dystrophy, run by Sqy Therapeutics at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 1 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Marine Geoffroy-Guiraud, PhD (+33 7 65 20 90 85, info@sqy-synthena.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of AEs in all participants (time frame: From baseline up to week 49). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05753462, which also lists 33 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2024.