Summary
Muscular atrophy (MONDO:0004323) is a disease with 7 cohort genes (1 GWAS associations across 3 studies) and 135 clinical trials. Top therapeutic interventions include testosterone, finasteride, and glycine.
At a glance
- Cohort genes: 7
- GWAS associations: 1
- ClinVar variants: 8
- Clinical trials: 135
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|
| Canonical name | muscular atrophy |
| Mondo ID | MONDO:0004323 |
| MeSH | D009133 |
| DOID | DOID:767 |
| SNOMED CT | 88092000 |
| UMLS | C0541794 |
| MedGen | 892680 |
| Is cancer (heuristic) | no |
Data availability: 8 ClinVar variants · 1 GWAS association (3 studies).
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › muscular atrophy
Related subtypes (31): polyglucosan body myopathy, myopathy of extraocular muscle, acute quadriplegic myopathy, myofascial pain syndrome, myopathy with abnormal lipid metabolism, proximal myopathy with focal depletion of mitochondria, Brody myopathy, rippling muscle disease, myopathy due to myoadenylate deaminase deficiency, proximal myopathy with extrapyramidal signs, intermediate nemaline myopathy, hereditary inclusion-body myopathy, hereditary continuous muscle fiber activity, congenital myopathy, muscular dystrophy, metabolic myopathy, myositis disease, collagen 6-related myopathy, myopathy caused by variation in CRPPA, drug-induced myopathy, myopathy caused by variation in FKRP, myopathy caused by variation in FKTN, myopathy caused by variation in POMGNT1, myopathy caused by variation in POMGNT2, myopathy caused by variation in POMT1, myopathy caused by variation in POMT2, myopathy caused by variation in GMPPB, FHL1-related myopathy, myopathy, sarcoplasmic body, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
Subtypes (1): Arnold stickler bourne syndrome
Genetics & variants
GWAS landscape
1 GWAS associations across 3 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|
| rs191847648 | 2e-12 | THORLNC | C | 2.88 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|
| GCST90479124 | Verma A | 2024 | 1,446 | 447,120 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479123 | Verma A | 2024 | 530 | 120,582 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480577 | Verma A | 2024 | 530 | 120,582 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|
| rs191847648 | 2 | 118163917 | C>A,G,T | 0.001 | intron_variant | THORLNC | 2e-12 | Tier 4: intronic/intergenic |
ClinVar germline variants
8 retrieved; paginated sample, class counts are floors:
3 uncertain significance, 2 pathogenic, 1 likely pathogenic, 1 pathogenic/likely pathogenic, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|
| 422408 | NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) | BICD2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4075385 | NM_001031713.4(MCUR1):c.802C>T (p.Arg268Ter) | MCUR1 | Pathogenic | criteria provided, single submitter |
| 992817 | NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs) | SMCHD1 | Pathogenic | no assertion criteria provided |
| 242886 | NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) | ATP2B3 | Likely pathogenic | criteria provided, single submitter |
| 977156 | NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) | CACNA1S | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1185003 | NM_024704.5(KIF16B):c.3773_3774del (p.Ala1258fs) | KIF16B | Uncertain significance | criteria provided, single submitter |
| 633779 | NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) | TLL2 | Uncertain significance | criteria provided, single submitter |
| 633780 | NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) | TLL2 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|
| CACNA1S | Orphanet:397755 | Periodic paralysis with transient compartment-like syndrome |
| CACNA1S | Orphanet:423 | Malignant hyperthermia of anesthesia |
| CACNA1S | Orphanet:681 | Hypokalemic periodic paralysis |
| CACNA1S | Orphanet:79102 | Thyrotoxic periodic paralysis |
| BICD2 | Orphanet:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
| SMCHD1 | Orphanet:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
| SMCHD1 | Orphanet:269 | Facioscapulohumeral dystrophy |
| ATP2B3 | Orphanet:314978 | X-linked non progressive cerebellar ataxia |
Cohort genes → proteins
7 cohort genes, 7 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|
| multi_evidence | 7 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|
| TLL2 | HGNC:11844 | ENSG00000095587 | Q9Y6L7 | Tolloid-like protein 2 | clinvar |
| CACNA1S | HGNC:1397 | ENSG00000081248 | Q13698 | Voltage-dependent L-type calcium channel subunit alpha-1S | clinvar |
| KIF16B | HGNC:15869 | ENSG00000089177 | Q96L93 | Kinesin-like protein KIF16B | clinvar |
| BICD2 | HGNC:17208 | ENSG00000185963 | Q8TD16 | Protein bicaudal D homolog 2 | clinvar |
| MCUR1 | HGNC:21097 | ENSG00000050393 | Q96AQ8 | Mitochondrial calcium uniporter regulator 1 | clinvar |
| SMCHD1 | HGNC:29090 | ENSG00000101596 | A6NHR9 | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 | clinvar |
| ATP2B3 | HGNC:816 | ENSG00000067842 | Q16720 | Plasma membrane calcium-transporting ATPase 3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|
| TLL2 | Tolloid-like protein 2 | Protease which specifically processes pro-lysyl oxidase. |
| CACNA1S | Voltage-dependent L-type calcium channel subunit alpha-1S | Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. |
| KIF16B | Kinesin-like protein KIF16B | Plus end-directed microtubule-dependent motor protein involved in endosome transport and receptor recycling and degradation. |
| BICD2 | Protein bicaudal D homolog 2 | Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. |
| MCUR1 | Mitochondrial calcium uniporter regulator 1 | Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion. |
| SMCHD1 | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 | Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. |
| ATP2B3 | Plasma membrane calcium-transporting ATPase 3 | ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals. |
Protein-family classification
Druggable: 3 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.43
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|
| Ion channel | 1 | 15.9× | 0.306 |
| Protease | 1 | 5.2× | 0.441 |
| Enzyme (other) | 1 | 1.7× | 0.744 |
| Transcription factor | 1 | 1.2× | 0.744 |
| Other/Unknown | 3 | 0.8× | 0.858 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|
| TLL2 | Protease | yes | | EGF-type_Asp/Asn_hydroxyl_site, EGF, CUB_dom |
| CACNA1S | Ion channel | yes | | VDCCAlpha1, VDCC_L_a1su, VDCC_L_a1ssu |
| KIF16B | Enzyme (other) | yes | 5.6.1.3 | FHA_dom, PX_dom, Kinesin_motor_dom |
| BICD2 | Other/Unknown | no | | BICD |
| MCUR1 | Other/Unknown | no | | CCDC90-like |
| SMCHD1 | Other/Unknown | no | | SMC_hinge, SMC_hinge_sf, HATPase_C_sf |
| ATP2B3 | Transcription factor | no | 7.2.2.10 | P_typ_ATPase, ATPase_P-typ_cation-transptr_N, ATPase_P-typ_cation-transptr_C |
Expression context
Cohort genes with no expression data: 0.
6 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|
| jejunal mucosa | 2 |
| apex of heart | 1 |
| buccal mucosa cell | 1 |
| primordial germ cell in gonad | 1 |
| gluteal muscle | 1 |
| hindlimb stylopod muscle | 1 |
| triceps brachii | 1 |
| colonic mucosa | 1 |
| sural nerve | 1 |
| gingiva | 1 |
| gingival epithelium | 1 |
| hair follicle | 1 |
| amniotic fluid | 1 |
| decidua | 1 |
| blood | 1 |
| calcaneal tendon | 1 |
| colonic epithelium | 1 |
| Brodmann (1909) area 23 | 1 |
| endothelial cell | 1 |
| middle temporal gyrus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|
| TLL2 | 149 | broad | marker | buccal mucosa cell, primordial germ cell in gonad, apex of heart |
| CACNA1S | 105 | tissue_specific | marker | gluteal muscle, hindlimb stylopod muscle, triceps brachii |
| KIF16B | 261 | ubiquitous | marker | sural nerve, jejunal mucosa, colonic mucosa |
| BICD2 | 290 | ubiquitous | marker | gingival epithelium, gingiva, hair follicle |
| MCUR1 | 288 | ubiquitous | marker | jejunal mucosa, decidua, amniotic fluid |
| SMCHD1 | 290 | ubiquitous | marker | calcaneal tendon, colonic epithelium, blood |
| ATP2B3 | 145 | tissue_specific | yes | endothelial cell, Brodmann (1909) area 23, middle temporal gyrus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|
| ATP2B3 | 3,203 |
| BICD2 | 2,275 |
| SMCHD1 | 1,888 |
| CACNA1S | 1,818 |
| KIF16B | 995 |
| MCUR1 | 932 |
| TLL2 | 485 |
Structural data
PDB: 4 · AlphaFold-only: 3 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|
| CACNA1S | Q13698 | 2 |
| KIF16B | Q96L93 | 2 |
| BICD2 | Q8TD16 | 2 |
| SMCHD1 | A6NHR9 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|
| TLL2 | Q9Y6L7 | 81.98 |
| ATP2B3 | Q16720 | 74.57 |
| MCUR1 | Q96AQ8 | 70.82 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 27. Enrichment computed across 7 evidence-associated genes (5 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| Golgi-to-ER retrograde transport | 2 | 53.1× | 0.012 | KIF16B, BICD2 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 2 | 41.9× | 0.012 | KIF16B, BICD2 |
| Reduction of cytosolic Ca++ levels | 1 | 190.3× | 0.026 | ATP2B3 |
| Anchoring fibril formation | 1 | 152.3× | 0.026 | TLL2 |
| Platelet calcium homeostasis | 1 | 142.8× | 0.026 | ATP2B3 |
| Crosslinking of collagen fibrils | 1 | 114.2× | 0.026 | TLL2 |
| Membrane Trafficking | 2 | 14.8× | 0.026 | KIF16B, BICD2 |
| Hemostasis | 2 | 14.4× | 0.026 | KIF16B, ATP2B3 |
| Vesicle-mediated transport | 2 | 13.9× | 0.026 | KIF16B, BICD2 |
| Platelet homeostasis | 1 | 55.7× | 0.044 | ATP2B3 |
| NCAM signaling for neurite out-growth | 1 | 54.4× | 0.044 | CACNA1S |
| NCAM1 interactions | 1 | 49.6× | 0.044 | CACNA1S |
| COPI-independent Golgi-to-ER retrograde traffic | 1 | 41.5× | 0.044 | BICD2 |
| Ion transport by P-type ATPases | 1 | 41.5× | 0.044 | ATP2B3 |
| Ion homeostasis | 1 | 40.8× | 0.044 | ATP2B3 |
| Kinesins | 1 | 35.7× | 0.046 | KIF16B |
| Collagen biosynthesis and modifying enzymes | 1 | 34.1× | 0.046 | TLL2 |
| Degradation of the extracellular matrix | 1 | 23.6× | 0.061 | TLL2 |
| COPI-dependent Golgi-to-ER retrograde traffic | 1 | 22.2× | 0.061 | KIF16B |
| Cardiac conduction | 1 | 21.8× | 0.061 | ATP2B3 |
| Ion channel transport | 1 | 19.2× | 0.066 | ATP2B3 |
| Muscle contraction | 1 | 15.4× | 0.078 | ATP2B3 |
| Factors involved in megakaryocyte development and platelet production | 1 | 13.3× | 0.086 | KIF16B |
| Axon guidance | 1 | 9.0× | 0.119 | CACNA1S |
| Nervous system development | 1 | 8.6× | 0.120 | CACNA1S |
| Transport of small molecules | 1 | 5.0× | 0.191 | ATP2B3 |
| Developmental Biology | 1 | 2.9× | 0.301 | CACNA1S |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| skeletal muscle adaptation | 1 | 2407.4× | 0.012 | CACNA1S |
| formation of primary germ layer | 1 | 1203.7× | 0.012 | KIF16B |
| negative regulation of skeletal muscle tissue growth | 1 | 1203.7× | 0.012 | TLL2 |
| microtubule anchoring at microtubule organizing center | 1 | 1203.7× | 0.012 | BICD2 |
| minus-end-directed organelle transport along microtubule | 1 | 601.9× | 0.016 | BICD2 |
| regulation of receptor recycling | 1 | 401.2× | 0.016 | KIF16B |
| extraocular skeletal muscle development | 1 | 401.2× | 0.016 | CACNA1S |
| calcium ion export across plasma membrane | 1 | 401.2× | 0.016 | ATP2B3 |
| nose development | 1 | 343.9× | 0.016 | SMCHD1 |
| positive regulation of muscle contraction | 1 | 343.9× | 0.016 | CACNA1S |
| autosome genomic imprinting | 1 | 343.9× | 0.016 | SMCHD1 |
| positive regulation of mitochondrial calcium ion concentration | 1 | 240.7× | 0.019 | MCUR1 |
| dosage compensation by inactivation of X chromosome | 1 | 218.9× | 0.019 | SMCHD1 |
| cellular response to caffeine | 1 | 218.9× | 0.019 | CACNA1S |
| calcium import into the mitochondrion | 1 | 172.0× | 0.019 | MCUR1 |
| receptor catabolic process | 1 | 160.5× | 0.019 | KIF16B |
| Golgi to endosome transport | 1 | 150.5× | 0.019 | KIF16B |
| protein heterooligomerization | 1 | 150.5× | 0.019 | MCUR1 |
| mitochondrial calcium ion transmembrane transport | 1 | 141.6× | 0.019 | MCUR1 |
| positive regulation of double-strand break repair via nonhomologous end joining | 1 | 141.6× | 0.019 | SMCHD1 |
| random inactivation of X chromosome | 1 | 133.8× | 0.019 | SMCHD1 |
| vesicle transport along microtubule | 1 | 126.7× | 0.019 | KIF16B |
| centrosome localization | 1 | 126.7× | 0.019 | BICD2 |
| striated muscle contraction | 1 | 120.4× | 0.019 | CACNA1S |
| regulation of cardiac conduction | 1 | 120.4× | 0.019 | ATP2B3 |
| protein localization to Golgi apparatus | 1 | 114.6× | 0.019 | BICD2 |
| calcium ion import | 1 | 114.6× | 0.019 | MCUR1 |
| early endosome to late endosome transport | 1 | 92.6× | 0.022 | KIF16B |
| endoderm development | 1 | 89.2× | 0.022 | KIF16B |
| negative regulation of double-strand break repair via homologous recombination | 1 | 89.2× | 0.022 | SMCHD1 |
Therapeutics
Drugs indicated or in trials for this disease
No drug has an approved disease-direct ChEMBL indication for this disease.
3 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 2 · Undrugged: 5
Druggability breadth: 3 of 7 evidence-associated genes (43%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|
| CACNA1S | BEPRIDIL |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|
| CACNA1S | 48 | 4 |
| SMCHD1 | 1 | 2 |
| TLL2 | 0 | 0 |
| KIF16B | 0 | 0 |
| BICD2 | 0 | 0 |
| MCUR1 | 0 | 0 |
| ATP2B3 | 0 | 0 |
Drugs targeting cohort genes (top 30)
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|
| CACNA1S | 228 | Binding:142, Functional:79, Toxicity:5, ADMET:2 |
| SMCHD1 | 7 | Binding:7 |
| TLL2 | 5 | Binding:5 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|
| KIF16B | 5.6.1.3 | plus-end-directed kinesin ATPase |
| ATP2B3 | 7.2.2.10 | P-type Ca2+ transporter |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|
| CACNA1S | 228 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 1.
Cohort genes with a CPIC/DPWG dosing guideline
| Symbol | CPIC guidelines |
|---|
| CACNA1S | 1 |
Chemical tractability of cohort targets
30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|
| BEPRIDIL | 4 | CACNA1S |
| IMIPRAMINE | 4 | CACNA1S |
| HALOFANTRINE | 4 | CACNA1S |
| DROPERIDOL | 4 | CACNA1S |
| SAQUINAVIR | 4 | CACNA1S |
| DULOXETINE | 4 | CACNA1S |
| DIAZEPAM | 4 | CACNA1S |
| SERTINDOLE | 4 | CACNA1S |
| QUINIDINE | 4 | CACNA1S |
| LAMIVUDINE | 4 | CACNA1S |
| PIMOZIDE | 4 | CACNA1S |
| PHENYTOIN | 4 | CACNA1S |
| TERFENADINE | 4 | CACNA1S |
| CISAPRIDE | 4 | CACNA1S |
| SOLIFENACIN | 4 | CACNA1S |
| NIFEDIPINE | 4 | CACNA1S |
| DILTIAZEM | 4 | CACNA1S |
| NILOTINIB | 4 | CACNA1S |
| ASTEMIZOLE | 4 | CACNA1S |
| TERODILINE | 4 | CACNA1S |
| CLOZAPINE | 4 | CACNA1S |
| MIBEFRADIL | 4 | CACNA1S |
| DOFETILIDE | 4 | CACNA1S |
| THIORIDAZINE | 4 | CACNA1S |
| PAROXETINE | 4 | CACNA1S |
| DONEPEZIL | 4 | CACNA1S |
| IBUTILIDE | 4 | CACNA1S |
| SUNITINIB | 4 | CACNA1S |
| HALOPERIDOL | 4 | CACNA1S |
| DASATINIB | 4 | CACNA1S |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|
| A | Approved (phase 4 drug) | 1 | CACNA1S |
| B | Phased (≥1) drug, not yet approved | 1 | SMCHD1 |
| C | Druggable family + PDB, no drug | 1 | KIF16B |
| D | Druggable family + AlphaFold only, no drug | 1 | TLL2 |
| E | Difficult family or no structure, no drug | 3 | BICD2, MCUR1, ATP2B3 |
Undrugged target profiles
5 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|
| TLL2 | 5 | — |
| KIF16B | 0 | — |
| BICD2 | 0 | — |
| MCUR1 | 0 | — |
| ATP2B3 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 135.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|
| Not specified | 110 |
| PHASE2 | 9 |
| PHASE3 | 5 |
| PHASE1 | 3 |
| EARLY_PHASE1 | 3 |
| PHASE4 | 2 |
| PHASE2/PHASE3 | 2 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|
| NCT00018356 | PHASE4 | COMPLETED | Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly |
| NCT02568020 | PHASE4 | UNKNOWN | LPD+α-ketoacids on Autophagy and Improving Muscle Wasting in CKD |
| NCT05626855 | PHASE3 | ACTIVE_NOT_RECRUITING | Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab |
| NCT01373697 | PHASE3 | UNKNOWN | Study to Assess the Efficacy and Safety of Ibuprofen 50 mg/g Gel Compared to Profenid 25mg/g Gel |
| NCT01595581 | PHASE3 | COMPLETED | Testosterone Administration and ACL Reconstruction in Men |
| NCT02773771 | PHASE2/PHASE3 | WITHDRAWN | Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit |
| NCT03054168 | PHASE3 | UNKNOWN | Systemic Hormones and Muscle Protein Synthesis |
| NCT04456530 | PHASE2/PHASE3 | UNKNOWN | Use of Testosterone to Prevent Post-Surgical Muscle Loss - Pilot Study |
| NCT05156320 | PHASE3 | COMPLETED | Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam |
| NCT03332238 | PHASE2 | ACTIVE_NOT_RECRUITING | Stromal Vascular Fraction Cell Therapy to Improve the Repair of Rotator Cuff Tears |
| NCT05211986 | PHASE1/PHASE2 | RECRUITING | Safety and Tolerability of IMM01-STEM in Patients With Muscle Atrophy Related to Knee Osteoarthritis. |
| NCT06050668 | PHASE2 | RECRUITING | Essential Amino Acid Supplementation for Femoral Fragility Fractures |
| NCT00475501 | PHASE2 | COMPLETED | 5-Alpha Reductase and Anabolic Effects of Testosterone |
| NCT00787098 | PHASE2 | COMPLETED | Investigating Modes of Progressive Mobility |
| NCT01369511 | PHASE2 | COMPLETED | A Study of LY2495655 in Older Participants Undergoing Elective Total Hip Replacement |
| NCT02145949 | PHASE2 | COMPLETED | Mechanistic Approach to Preventing Atrophy and Restoring Function in Older Adults |
| NCT03921528 | PHASE2 | COMPLETED | An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy |
| NCT04742010 | PHASE2 | UNKNOWN | Zoledronic Acid for Prevention of Bone Loss After BAriatric Surgery (ZABAS) |
| NCT05198466 | PHASE2 | COMPLETED | Electrical Stimulation for Critically Ill Post-Covid-19 Patients |
| NCT00952887 | PHASE1 | COMPLETED | A Safety, Tolerability, Pharmacokinetic and Pharmacodynamic Study of ACE-031 in Healthy Postmenopausal Women |
| NCT01524406 | PHASE1 | TERMINATED | Safety Study of HPP593 in Subjects During and After Limb Immobilization |
| NCT04685213 | PHASE1 | COMPLETED | Electrical Stimulation for Critically Ill Covid-19 Patients |
| NCT03107884 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | Role of Metformin on Muscle Health of Older Adults |
| NCT07179042 | EARLY_PHASE1 | ENROLLING_BY_INVITATION | Intertrochanteric Femur Fracture Patients Who Receive Metformin With a Placebo |
| NCT03069781 | EARLY_PHASE1 | WITHDRAWN | The Effects of 17β-estradiol on Skeletal Muscle |
| NCT03201094 | Not specified | RECRUITING | Impact of NMES and HPRO on Recovery After SAH- Pilot Study |
| NCT03660969 | Not specified | ACTIVE_NOT_RECRUITING | Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease |
| NCT03761446 | Not specified | RECRUITING | The Role of Type 2 Diabetes on Skeletal Muscle Atrophy and Recovery Following Bed Rest in Older Adults |
| NCT04067167 | Not specified | RECRUITING | Flexi Band Resistance Training Versus EMS Exercise in Patients With the Diagnosis of Malignant Diseases |
| NCT04199923 | Not specified | ACTIVE_NOT_RECRUITING | Mechanisms of Disuse Atrophy in Human Skeletal Muscle (iMOB) |
| NCT04809714 | Not specified | ACTIVE_NOT_RECRUITING | The Role of Blood Flow Restriction Therapy in Postoperative Elderly Patients With Hip Fracture |
| NCT04849624 | Not specified | ACTIVE_NOT_RECRUITING | Body Composition Study in Critically Ill Patients-Extended to COVID-19 |
| NCT05206838 | Not specified | RECRUITING | Achilles Tendon for the Treatment of Gluteus Medius Insufficiency |
| NCT05216666 | Not specified | RECRUITING | The Role of Surgical Approach on Residual Limping After Total Hip Arthroplasty |
| NCT05414292 | Not specified | RECRUITING | Impacts of Mechanistic Target of Rapamycin (mTOR) Inhibition on Aged Human Muscle (Rapamune) |
| NCT05627440 | Not specified | RECRUITING | A SkeleTal Muscle Recovery Intervention With Dietary Protein in Heart Failure |
| NCT05765643 | Not specified | RECRUITING | Nurse Parental Support Using a Mobile App in Symptom Management for CMC |
| NCT05919940 | Not specified | RECRUITING | Improved Muscle Metabolism by Combination of Muscle Activation and Protein Substitution ( IMEMPRO ) |
| NCT06053229 | Not specified | RECRUITING | Effect of Percussive Massage on Skeletal Muscle During Limb Immobilization |
| NCT06238609 | Not specified | ACTIVE_NOT_RECRUITING | Neuromodulation for Prevention of Intensive Care Unit Acquired Weakness and Post Intensive Care Syndrome |
Drugs tested across these trials (top 30)
- Cohort genes: TLL2, CACNA1S, KIF16B, BICD2, MCUR1, SMCHD1, ATP2B3
- Drugs: Testosterone, Finasteride, Glycine, Goserelin Acetate, Potassium Bicarbonate, Safflower Oil, Testosterone Enanthate, Apitegromab, Menatetrenone