Disease · MONDO_0008056

myotonic dystrophy type 1

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. myotonic dystrophy type 1. Diseases, record MONDO_0008056. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008056

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: myotonic dystrophy type 1; Open Targets
Open Targets ID: MONDO_0008056; Open Targets
Other names: DM1, DMPK myotonic dystrophy, MD1, Steinert disease, Steinert myotonic dystrophy, Steinert myotonic dystrophy syndrome, Steinert syndrome, dystrophia myotonica, myotonic dystrophy caused by mutation in DMPK; Open Targets
Disease Ontology: DOID:11722; Disease Ontology
NCI Thesaurus: C84679; NCI Thesaurus
Orphanet: ORPHA:273; Orphanet
Highest stage of its drugs: Phase 3, for 4 of its 12 drugs, from ClinicalTrials.gov; Open Targets

Drugs12

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
DELPACIBART ETEDESIRAN	CHEMBL5314669	Antibody drug conjugate	Phase 3	ClinicalTrials.gov	4	4	3	Drugs and targets
MEXILETINE	CHEMBL558	Small molecule	Phase 3	ClinicalTrials.gov	4	4	4	Drugs and targets
METFORMIN	CHEMBL1431	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
ZELECIMENT BASIVARSEN	CHEMBL5314900	Protein	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
TIDEGLUSIB	CHEMBL3545157	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
METHYLPHENIDATE	CHEMBL796	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
MECASERMIN	CHEMBL1201716	Protein	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
RINFABATE	CHEMBL2108047		Phase 2	ClinicalTrials.gov	2	2	1	Drugs and targets
PITOLISANT	CHEMBL462605	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
AMITRIPTYLINE HYDROCHLORIDE	CHEMBL1200964	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	0	Drugs and targets

1 to 10 of 12

See all 12 drugs

Targets71

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
SCN4A	Sodium channel alpha subunit	2	Sodium channel alpha subunit blocker; Sodium channel protein type IV alpha subunit blocker	Phase 3	https://conductscience.org/library/genes/6329	Drugs and targets
SCN5A	Sodium channel alpha subunit	2	Sodium channel alpha subunit blocker; Sodium channel protein type V alpha subunit blocker	Phase 3	https://conductscience.org/library/genes/6331	Drugs and targets
SLC6A2	Sodium-dependent noradrenaline transporter	2	Norepinephrine transporter inhibitor	Phase 2/3	https://conductscience.org/library/genes/6530	Drugs and targets
CACNA1C	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1	https://conductscience.org/library/genes/775	Drugs and targets
CACNA1D	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1	https://conductscience.org/library/genes/776	Drugs and targets
CACNA1F	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1	https://conductscience.org/library/genes/778	Drugs and targets
CACNA1S	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1	https://conductscience.org/library/genes/779	Drugs and targets
COXFA4	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 3	https://conductscience.org/library/genes/4697	Drugs and targets
COXFA4L2	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 3	https://conductscience.org/library/genes/56901	Drugs and targets
GPD2	Glycerol-3-phosphate dehydrogenase, mitochondrial	1	Mitochondrial glycerol-3-phosphate dehydrogenase inhibitor	Phase 3	https://conductscience.org/library/genes/2820	Drugs and targets

1 to 10 of 71

See all 71 targets

Trials17

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 2 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00577577	Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1	Phase 2	69	2022-01-06	Myotonic Dystrophy Type 1	MECASERMIN, RINFABATE	Its record names the disease	ClinicalTrials.gov
NCT01406873	Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1	Phase 2	42	2018-03-29	Myotonic Dystrophy	MEXILETINE	Its record names the disease	ClinicalTrials.gov
NCT04886518	Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients With Myotonic Dystrophy Type 1	Phase 2	30	2025-04-25	Myotonic Dystrophy 1, Excessive Daytime Sleepiness	PITOLISANT	Its record names the disease	ClinicalTrials.gov
NCT00233519	Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)	Phase 1/2	17	2010-02-01	Myotonic Dystrophy	MECASERMIN	Its record names the disease	ClinicalTrials.gov
NCT02858908	Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy	Phase 2	16	2025-09-11	Myotonic Dystrophy 1	TIDEGLUSIB	Its record names the disease	ClinicalTrials.gov
NCT07008469	Global Open-Label Extension Study of Del-desiran for the Treatment of DM1	Phase 3	199		Myotonic Dystrophy Type 1, DM1, Myotonic Dystrophy, Myotonia, Myotonic Dystrophy 1, Myotonic Disorders, Steinert Myotonic Dystrophy, Steinert Disease	DELPACIBART ETEDESIRAN	Its record names the disease	ClinicalTrials.gov
NCT06523400	The Efficacy and Safety of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2	Phase 3	176		Myotonic Dystrophy	MEXILETINE	Its record names the disease	ClinicalTrials.gov
NCT06549400	An Open-Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2 Who Have Completed MEX-DM-302 Study.	Phase 3	176		Myotonic Dystrophy	MEXILETINE	Its record names the disease	ClinicalTrials.gov
NCT06411288	Global Study of Del-desiran for the Treatment of DM1	Phase 3	159		DM1, Myotonic Dystrophy, Myotonic Dystrophy 1, Myotonia, Myotonic Dystrophy Type 1 (DM1), Dystrophy Myotonic, Myotonic Disorders, Steinert Disease, Steinert, Myotonic Muscular Dystrophy	DELPACIBART ETEDESIRAN	Its record names the disease	ClinicalTrials.gov
NCT07486934	Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1	Phase 3	150		Myotonic Dystrophy Type 1 (DM1), DM1, Myotonic Dystrophy, Steinert Disease, Steinert	ZELECIMENT BASIVARSEN	Its record names the disease	ClinicalTrials.gov

1 to 10 of 17

See all 17 trials

Comparisons in its trials8

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
IPLEX™ vs Placebo: deaths from any cause	1 of 34	0 of 35	69	NCT00577577	Trial comparisons
IPLEX™ vs Placebo: serious adverse events	7 of 34	6 of 35	69	NCT00577577	Trial comparisons
Mexiletine vs Placebo: deaths from any cause	0 of 21	0 of 21	42	NCT01406873	Trial comparisons
Mexiletine vs Placebo: serious adverse events	1 of 21	1 of 21	42	NCT01406873	Trial comparisons
Cohort 1 vs Cohort 2: deaths from any cause	0 of 8	0 of 8	16	NCT02858908	Trial comparisons
Cohort 1 vs Cohort 2: serious adverse events	0 of 8	0 of 8	16	NCT02858908	Trial comparisons
Cohort 1- Two Escalating Doses of iPlex vs Cohort 2-Three Escalating Doses of iPlex: The Number of Study Participants Who Safely Tolerated Somatokine	6 of 6	9 of 9	15	NCT00233519	Trial comparisons
Cohort 1- Two Escalating Doses of iPlex vs Cohort 2-Three Escalating Doses of iPlex: serious adverse events	0 of 6	1 of 9	15	NCT00233519	Trial comparisons

Papers from its trials8

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
41707138	DERIVED	1	PubMed
40197813	DERIVED	1	PubMed
39555632	DERIVED	1	PubMed
36790141	DERIVED	1	PubMed
32942085	DERIVED	1	PubMed
30390395	DERIVED	1	PubMed
22578232	DERIVED	1	PubMed
20837825	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0008056

GET https://conductscience.org/api/diseases/v1/MONDO_0008056/targets?page=2

API reference For AI assistants