Table 2.
List of clinical trials carried out on SMA and SBMA using different omics approaches.
| Spinal Muscular Atrophy and Spinal-Bulbar Muscular Atrophy | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Clinical Trials Identifier | Date | Phase | Status | Treatment | Approach | Title | State | Phase | ||
| Start | Completion | Name | Drug | |||||||
| NCT02122952 | 5 May 2014 | 15 December 2017 | Completed |
SMN1–SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101 | United States | I |
| NCT03306277 | 24 October 2017 | 12 November 2019 | Completed |
SMN1–SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous InFUS ion | United States | III |
| NCT03461289 | 16 August 2018 | 11 September 2020 | Completed |
SMN1–SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous InFUS ion | Belgium, France and others | III |
| NCT03837184 | 31 May 2019 | 29 June 2021 | Completed |
SMN1–SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous InFUS ion | Japan, Korea and Taiwan | III |
| NCT03381729 | 14 December 2017 | 18 November 2021 | Completed |
SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | Phase I, Open-Label, Dose Comparison Study of AVXS-101 for Sitting but Non-ambulatory Patients with Spinal Muscular Atrophy | United States | I |
| NCT03505099 | 2 April 2018 | 15 June 2021 | Completed |
SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants with Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy with Multiple Copies of SMN2 | United States | III |
| NCT04042025 | 10 February 2020 | Enrolling by invitation | SMA clinical and genetic diagnosis | AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 | United States | IV | |
| NCT02628743 | 20 January 2016 | 18 December 2018 | Completed |
SMN2 genetic diagnosis |
AVXS-101—Onasemnogene Abeparvovec |
SMN gene therapy |
Genomics | Multicenter, Open-Label, Single-Arm Study to Evaluate Long-Term Safety, Tolerability, and Effectiveness of 10 mg/kg BID Olesoxime in Patients with Spinal Muscular Atrophy | Belgium, France and others. | II |
| NCT04576494 | 24 January 2022 |
Recruiting | SMA genetic diagnosis |
Nusinersen—Spinraza | ASO designed to allow the SMN2 gene to produce the full-length protein that can function normally | Genomics | Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type 2 or 3 Forms): a Multicenter Single-case Experimental Design in Multiple Baselines Across Subjects, Randomized, Single-blinded Evaluation | France | Not Applicable | |
| NCT04851873 | 8 September 2021 |
Recruiting |
SMN1–SMN2 genetic diagnosis |
OAV101 (AVXS-101) |
SMN gene therapy |
Genomics | A Phase IIIb, Open-label, Single-arm, Single-dose, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Gene Replacement Therapy with Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) | Australia | III | |
| NCT05089656 | 2 February 2022 | Recruiting |
SMN1–SMN2 genetic diagnosis |
OAV101 (AVXS-101) |
SMN gene therapy |
Genomics | A Randomized, Sham-controlled, Double-blind Study to Evaluate the Efficacy and Safety of Intrathecal OAV101 in Patients Type 2 Spinal Muscular Atrophy (SMA) Who Are ≥ 2 to < 18 Years of Age, Treatment Naive, Sitting, and Never Ambulatory | United States | III | |
| NCT03779334 | 7 August 2019 |
Active, not recruiting |
SMN2 genetic diagnosis |
RO7034067- Risdiplam | A splice modifier of the pre-mRNA of the SMN2 gene | Genomics | An Open-Label Study of Risdiplam in Infants with Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy | United States | II | |
| NCT01671384 | August 2013 | Unknown |
SMN1 genetic diagnosis |
Valproate and levocarnitine | Valproic acid (VPA) = a histone deacetylase inhibitor (HDAC) | Genomics | Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children with Spinal Muscular Atrophy Aged 2–15 Years | India | III | |
| NCT00439569 | January 2008 | August 2008 | Terminated | SMA clinical diagnosis |
Sodium phenylbutyrate | Histone deacetylase inhibitor and a chemical chaperone | Transcriptomics | Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects with Type II/III Spinal Muscular Atrophy | United States | I-II |
| NCT03032172 | 3 March 2017 | Active, not recruiting |
SMN2 genetic diagnosis |
RO7034067- Risdiplam | A splice modifier of the pre-mRNA of the SMN2 gene | Transcriptomics | An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of Risdiplam (RO7034067) in Adult and Pediatric Patients with Spinal Muscular Atrophy | United States | II | |
| NCT02908685 | 20 October 2016 |
Active, not recruiting | SMA genetic diagnosis |
RO7034067- Risdiplam | A splice modifier of the pre-mRNA of the SMN2 gene | Genomics and transcriptomics | A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy Patients | United States | II-III | |
| NCT02913482 | 23 December 2016 | Active, not recruiting | SMA genetic diagnosis |
RO7034067- Risdiplam | A splice modifier of the pre-mRNA of the SMN2 gene | Genomics and transcriptomics | A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Infants with Type 1 Spinal Muscular Atrophy | United States | II-III | |
| NCT00485511 | June 2007 | June 2009 | Completed |
SMN1–SMN2 genetic diagnosis |
Hydroxyurea |
SMN2 transcription pattern modified |
Genomics and transcriptomics | A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy | Taiwan | II-III |
| NCT02550691 | 15 December 2015 | 4 July 2016 | Terminated |
SMN1–SMN2 genetic diagnosis |
Genomics | Identification of a Biomarker Associated with Cis-duplication of the SMN1 Gene Aiming at Improving the Genetic Counseling in Spinal Muscular Atrophy Families | France | Not Applicable | ||
| NCT04833348 | August 2021 | Not yet recruiting |
SMN1 genetic diagnosis |
Genomics | Quantification of Motor Function in Infants with Spinal Muscular Atrophy Treated with Innovative Therapies, IMUSMA Project | France | Not Applicable | |||
| NCT00303446 | March 2006 | December 2009 | Completed |
SBMA genetically confirmed |
Dutasteride | Inhibitor of 5-alpha-reductase I and II | Genomics | Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA) |
United States | II |
The search for clinical trials in the ClinicalTrials.gov database was carried out using the “Spinal Muscular Atrophy” or “Spinal-Bulbar Muscular Atrophy” and “mutation”, “mutational”, “gene expression”, “genotype”, “gene”, “transcriptome”, “transcriptomics”, “C9Orf72”, “SOD1”, “FUS”, “TARDBP”, “DNA”, “RNA”, “sequencing” as keywords. The names of genes are in italics.