autosomal recessive limb-girdle muscular dystrophy type 2D

Summary

autosomal recessive limb-girdle muscular dystrophy type 2D (MONDO:0011968) is a disease caused by SGCA (GenCC Definitive), with 3 cohort genes and 3 clinical trials.

At a glance

• Prevalence: <1 / 1 000 000 (United Kingdom) [Orphanet-validated]
• Causal gene: SGCA (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 757
• Phenotypes (HPO): 14
• Clinical trials: 3

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000	0.07	United Kingdom	Validated

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0001771	Achilles tendon contracture	Frequent (30-79%)
HP:0002359	Frequent falls	Frequent (30-79%)
HP:0002515	Waddling gait	Frequent (30-79%)
HP:0003236	Elevated circulating creatine kinase concentration	Frequent (30-79%)
HP:0003307	Hyperlordosis	Frequent (30-79%)
HP:0003391	Gowers sign	Frequent (30-79%)
HP:0003551	Difficulty climbing stairs	Frequent (30-79%)
HP:0003560	Muscular dystrophy	Frequent (30-79%)
HP:0003691	Scapular winging	Frequent (30-79%)
HP:0003701	Proximal muscle weakness	Frequent (30-79%)
HP:0003707	Calf muscle pseudohypertrophy	Frequent (30-79%)
HP:0006467	Limited shoulder movement	Frequent (30-79%)
HP:0030051	Tip-toe gait	Frequent (30-79%)
HP:0002943	Thoracic scoliosis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	autosomal recessive limb-girdle muscular dystrophy type 2D
Mondo ID	MONDO:0011968
OMIM	608099
Orphanet	62
DOID	DOID:0110278
NCIT	C142081
SNOMED CT	715340002
UMLS	C2936332
MedGen	424706
GARD	0000438
Is cancer (heuristic)	no

Also known as: Alpha-sarcoglycanopathy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA · DMDA2 · LGMD2D · limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency · limb-girdle muscular dystrophy type 2D · limb-girdle muscular dystrophy, type 2D · muscular dystrophy limb-girdle with alpha-sarcoglycan · muscular dystrophy, limb-girdle, autosomal recessive 3 · muscular dystrophy, limb-girdle, type 2D · SGCA autosomal recessive limb-girdle muscular dystrophy

Data availability: 757 ClinVar variants · 4 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive disease › autosomal recessive limb-girdle muscular dystrophy › autosomal recessive limb-girdle muscular dystrophy type 2D

Related subtypes (31): epidermolysis bullosa simplex 5B, with muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy type 2A, autosomal recessive limb-girdle muscular dystrophy type 2B, autosomal recessive limb-girdle muscular dystrophy type 2C, autosomal recessive limb-girdle muscular dystrophy type 2H, autosomal recessive limb-girdle muscular dystrophy type 2F, autosomal recessive limb-girdle muscular dystrophy type 2G, autosomal recessive limb-girdle muscular dystrophy type 2E, autosomal recessive limb-girdle muscular dystrophy type 2I, autosomal recessive limb-girdle muscular dystrophy type 2J, autosomal recessive limb-girdle muscular dystrophy type 2K, autosomal recessive limb-girdle muscular dystrophy type 2L, autosomal recessive limb-girdle muscular dystrophy type 2M, autosomal recessive limb-girdle muscular dystrophy type 2O, autosomal recessive limb-girdle muscular dystrophy type 2N, autosomal recessive limb-girdle muscular dystrophy type 2Q, autosomal recessive limb-girdle muscular dystrophy type 2P, autosomal recessive limb-girdle muscular dystrophy type 2T, autosomal recessive limb-girdle muscular dystrophy type R18, autosomal recessive limb-girdle muscular dystrophy type 2U, limb-girdle muscular dystrophy due to POMK deficiency, autosomal recessive limb-girdle muscular dystrophy type 2X, autosomal recessive limb-girdle muscular dystrophy type 2W, autosomal recessive limb-girdle muscular dystrophy type 2Y, autosomal recessive limb-girdle muscular dystrophy type 2R1, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8, muscular dystrophy, limb-girdle, autosomal recessive 23, muscular dystrophy, limb-girdle, autosomal recessive 26, muscular dystrophy, limb-girdle, autosomal recessive 27, muscular dystrophy, limb-girdle, autosomal recessive 28, muscular dystrophy, limb-girdle, autosomal recessive 29

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

279 likely benign, 140 uncertain significance, 70 likely pathogenic, 41 conflicting classifications of pathogenicity, 31 pathogenic, 29 pathogenic/likely pathogenic, 10 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1052453	NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)	SGCA	Pathogenic	criteria provided, single submitter
1066710	NM_000023.4(SGCA):c.957-1G>T	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068521	NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068550	NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)	SGCA	Pathogenic	criteria provided, single submitter
1068994	NC_000017.10:g.(?_48243138)_48245027del	SGCA	Pathogenic	criteria provided, single submitter
1073628	NM_000023.4(SGCA):c.377dup (p.Asp126fs)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1163606	NM_000023.4(SGCA):c.795del (p.Asp266fs)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1180729	NM_000023.4(SGCA):c.320_330del (p.Ala107fs)	SGCA	Pathogenic	criteria provided, single submitter
1323585	NM_000023.4(SGCA):c.904del (p.Leu302fs)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1379390	NM_000023.4(SGCA):c.862del (p.Val288fs)	SGCA	Pathogenic	criteria provided, single submitter
1399916	NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)	SGCA	Pathogenic	criteria provided, single submitter
1431913	NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1453713	NM_000023.4(SGCA):c.105del (p.Phe36fs)	SGCA	Pathogenic	criteria provided, single submitter
1453960	NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)	SGCA	Pathogenic	criteria provided, single submitter
1454362	NC_000017.10:g.(?48243138)(48245027_?)del	SGCA	Pathogenic	criteria provided, single submitter
1459652	NM_000023.4(SGCA):c.95T>C (p.Val32Ala)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1459870	NC_000017.10:g.(?48243336)(48253303_?)del	SGCA	Pathogenic	criteria provided, single submitter
167677	NM_000023.4(SGCA):c.739G>A (p.Val247Met)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1705242	NM_000023.4(SGCA):c.1A>G (p.Met1Val)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188733	NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188811	NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
191294	NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	SGCA	Pathogenic	criteria provided, multiple submitters, no conflicts
1936207	NM_000023.4(SGCA):c.488del (p.Gly163fs)	SGCA	Pathogenic	criteria provided, single submitter
1967847	NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)	SGCA	Pathogenic	criteria provided, single submitter
2007370	NM_000023.4(SGCA):c.250dup (p.His84fs)	SGCA	Pathogenic	criteria provided, single submitter
2029637	NM_000023.4(SGCA):c.225del (p.Trp75fs)	SGCA	Pathogenic	criteria provided, single submitter
2090379	NM_000023.4(SGCA):c.229dup (p.Arg77fs)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2198463	NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2422148	NC_000017.10:g.(?48243336)(48246625_?)del	SGCA	Pathogenic	criteria provided, single submitter
2678664	NM_000023.4(SGCA):c.596del (p.Lys199fs)	SGCA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
SGCA	Definitive	Autosomal recessive	autosomal recessive limb-girdle muscular dystrophy type 2D	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SGCA	Orphanet:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
TUBA1A	Orphanet:171680	Lissencephaly due to TUBA1A mutation
TUBA1A	Orphanet:45358	Congenital fibrosis of extraocular muscles
TUBA1A	Orphanet:467166	Tubulinopathy-associated dysgyria
TUBA1A	Orphanet:994	Fetal akinesia deformation sequence
COL1A1	Orphanet:1310	Caffey disease
COL1A1	Orphanet:1899	Arthrochalasia Ehlers-Danlos syndrome
COL1A1	Orphanet:216796	Osteogenesis imperfecta type 1
COL1A1	Orphanet:216804	Osteogenesis imperfecta type 2
COL1A1	Orphanet:216812	Osteogenesis imperfecta type 3
COL1A1	Orphanet:216820	Osteogenesis imperfecta type 4
COL1A1	Orphanet:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome
COL1A1	Orphanet:287	Classical Ehlers-Danlos syndrome
COL1A1	Orphanet:31112	Dermatofibrosarcoma protuberans
COL1A1	Orphanet:314029	High bone mass osteogenesis imperfecta

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SGCA	HGNC:10805	ENSG00000108823	Q16586	Alpha-sarcoglycan	gencc,clinvar
TUBA1A	HGNC:20766	ENSG00000167552	Q71U36	Tubulin alpha-1A chain	clinvar
COL1A1	HGNC:2197	ENSG00000108821	P02452	Collagen alpha-1(I) chain	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SGCA	Alpha-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
TUBA1A	Tubulin alpha-1A chain	Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.
COL1A1	Collagen alpha-1(I) chain	Type I collagen is a member of group I collagen (fibrillar forming collagen).

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.0

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
Other/Unknown	3	1.8×	0.174

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SGCA	Other/Unknown	no		Cadg, Sarcoglycan_alpha/epsilon, Cadherin-like_sf
TUBA1A	Other/Unknown	no		Tubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase
COL1A1	Other/Unknown	no		Fib_collagen_C, VWF_dom, Collagen

Expression context

Cohort genes with no expression data: 0.

3 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
apex of heart	1
gastrocnemius	1
hindlimb stylopod muscle	1
cortical plate	1
endothelial cell	1
ganglionic eminence	1
periodontal ligament	1
skin of hip	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SGCA	190	broad	marker	hindlimb stylopod muscle, gastrocnemius, apex of heart
TUBA1A	288	ubiquitous	marker	endothelial cell, cortical plate, ganglionic eminence
COL1A1	298	ubiquitous	marker	stromal cell of endometrium, skin of hip, periodontal ligament

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
COL1A1	5,341
TUBA1A	1,436
SGCA	1,132

Structural data

PDB: 2 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TUBA1A	Q71U36	15
COL1A1	P02452	14

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SGCA	Q16586	80.15

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 121. Enrichment computed across 3 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Non-integrin membrane-ECM interactions	2	102.9×	0.015	SGCA, COL1A1
Defective VWF binding to collagen type I	1	1268.9×	0.032	COL1A1
Enhanced cleavage of VWF variant by ADAMTS13	1	951.7×	0.032	COL1A1
Defective VWF cleavage by ADAMTS13 variant	1	951.7×	0.032	COL1A1
Enhanced binding of GP1BA variant to VWF multimer:collagen	1	543.8×	0.036	COL1A1
Defective binding of VWF variant to GPIb:IX:V	1	543.8×	0.036	COL1A1
GP1b-IX-V activation signalling	1	317.2×	0.036	COL1A1
Anchoring fibril formation	1	253.8×	0.036	COL1A1
Platelet Adhesion to exposed collagen	1	223.9×	0.036	COL1A1
Scavenging by Class A Receptors	1	200.3×	0.036	COL1A1
Fibronectin matrix formation	1	190.3×	0.036	COL1A1
Crosslinking of collagen fibrils	1	190.3×	0.036	COL1A1
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1	181.3×	0.036	TUBA1A
Transport of connexons to the plasma membrane	1	181.3×	0.036	TUBA1A
Gap junction trafficking and regulation	1	158.6×	0.036	TUBA1A
Gap junction trafficking	1	158.6×	0.036	TUBA1A
Post-chaperonin tubulin folding pathway	1	158.6×	0.036	TUBA1A
RUNX2 regulates osteoblast differentiation	1	152.3×	0.036	COL1A1
Platelet Aggregation (Plug Formation)	1	146.4×	0.036	COL1A1
Syndecan interactions	1	141.0×	0.036	COL1A1
Formation of tubulin folding intermediates by CCT/TriC	1	141.0×	0.036	TUBA1A
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	1	135.9×	0.036	TUBA1A
Prefoldin mediated transfer of substrate to CCT/TriC	1	131.3×	0.036	TUBA1A
MET activates PTK2 signaling	1	126.9×	0.036	COL1A1
Activation of AMPK downstream of NMDARs	1	126.9×	0.036	TUBA1A
RHO GTPases activate IQGAPs	1	115.3×	0.036	TUBA1A
Sealing of the nuclear envelope (NE) by ESCRT-III	1	115.3×	0.036	TUBA1A
HCMV Infection	1	108.8×	0.036	TUBA1A
GPVI-mediated activation cascade	1	102.9×	0.036	COL1A1
Formation of the dystrophin-glycoprotein complex (DGC)	1	102.9×	0.036	SGCA

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cellular response to vitamin E	1	5617.3×	0.011	COL1A1
cellular response to fluoride	1	2808.7×	0.011	COL1A1
tooth mineralization	1	1872.4×	0.011	COL1A1
pyramidal neuron differentiation	1	1123.5×	0.011	TUBA1A
cellular response to acetaldehyde	1	1123.5×	0.011	COL1A1
intramembranous ossification	1	936.2×	0.011	COL1A1
cerebellar cortex morphogenesis	1	936.2×	0.011	TUBA1A
cartilage development involved in endochondral bone morphogenesis	1	802.5×	0.011	COL1A1
bone trabecula formation	1	702.2×	0.011	COL1A1
neuron projection arborization	1	624.1×	0.011	TUBA1A
response to L-glutamate	1	561.7×	0.011	TUBA1A
skin morphogenesis	1	468.1×	0.011	COL1A1
forebrain morphogenesis	1	468.1×	0.011	TUBA1A
collagen-activated tyrosine kinase receptor signaling pathway	1	432.1×	0.011	COL1A1
organelle transport along microtubule	1	401.2×	0.011	TUBA1A
startle response	1	374.5×	0.011	TUBA1A
response to hyperoxia	1	374.5×	0.011	COL1A1
negative regulation of cell-substrate adhesion	1	351.1×	0.011	COL1A1
collagen biosynthetic process	1	351.1×	0.011	COL1A1
microtubule-based process	1	330.4×	0.011	TUBA1A
locomotory exploration behavior	1	330.4×	0.011	TUBA1A
cytoskeleton-dependent intracellular transport	1	312.1×	0.011	TUBA1A
glial cell differentiation	1	295.6×	0.011	TUBA1A
microtubule polymerization	1	295.6×	0.011	TUBA1A
response to steroid hormone	1	280.9×	0.011	COL1A1
regulation of synapse organization	1	216.1×	0.013	TUBA1A
dentate gyrus development	1	208.1×	0.013	TUBA1A
response to tumor necrosis factor	1	208.1×	0.013	TUBA1A
motor behavior	1	187.2×	0.014	TUBA1A
endochondral ossification	1	181.2×	0.014	COL1A1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 2

Druggability breadth: 2 of 3 evidence-associated genes (67%) 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
TUBA1A	COLCHICINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TUBA1A	22	4
SGCA	0	0
COL1A1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
COLCHICINE	4	TUBA1A
VINBLASTINE	4	TUBA1A
LEVOFLOXACIN ANHYDROUS	4	TUBA1A
DOCETAXEL	4	TUBA1A
NOSCAPINE	4	TUBA1A
VINBLASTINE SULFATE	4	TUBA1A
PACLITAXEL	4	TUBA1A
LEVOFLOXACIN	4	TUBA1A
VINORELBINE	4	TUBA1A
TIRBANIBULIN	4	TUBA1A
PODOFILOX	4	TUBA1A
VINCRISTINE	4	TUBA1A
DOCETAXEL ANHYDROUS	4	TUBA1A
PATUPILONE	3	TUBA1A
ABT-751	2	TUBA1A
MAYTANSINE	2	TUBA1A
DOLASTATIN-10	2	TUBA1A
INDIBULIN	2	TUBA1A
PARBENDAZOLE	2	TUBA1A
NOCODAZOLE	2	TUBA1A
MOLIBRESIB	2	TUBA1A
COMBRETASTATIN	1	TUBA1A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TUBA1A	1,696	Binding:1655, Functional:35, ADMET:6
COL1A1	8	Binding:8

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TUBA1A	1,696

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

22 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)
COLCHICINE	4	TUBA1A
VINBLASTINE	4	TUBA1A
LEVOFLOXACIN ANHYDROUS	4	TUBA1A
DOCETAXEL	4	TUBA1A
NOSCAPINE	4	TUBA1A
VINBLASTINE SULFATE	4	TUBA1A
PACLITAXEL	4	TUBA1A
LEVOFLOXACIN	4	TUBA1A
VINORELBINE	4	TUBA1A
TIRBANIBULIN	4	TUBA1A
PODOFILOX	4	TUBA1A
VINCRISTINE	4	TUBA1A
DOCETAXEL ANHYDROUS	4	TUBA1A
PATUPILONE	3	TUBA1A
ABT-751	2	TUBA1A
MAYTANSINE	2	TUBA1A
DOLASTATIN-10	2	TUBA1A
INDIBULIN	2	TUBA1A
PARBENDAZOLE	2	TUBA1A
NOCODAZOLE	2	TUBA1A
MOLIBRESIB	2	TUBA1A
COMBRETASTATIN	1	TUBA1A

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	TUBA1A
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	SGCA, COL1A1

Undrugged target profiles

2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SGCA	0	—
COL1A1	8	—

Clinical trials & evidence

Clinical trials

Clinical trials: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1/PHASE2	1
PHASE1	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01976091	PHASE1/PHASE2	COMPLETED	A Gene Transfer Therapy Study to Evaluate the Safety of SRP-9004 (Patidistrogene Bexoparvovec) in Participants With Limb-Girdle Muscular Dystrophy, Type 2D (LGMD2D)
NCT06747273	PHASE1	TERMINATED	Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9004 Administered by Systemic Infusion in Limb Girdle Muscular Dystrophy Type 2D/R3 Participants in the United States
NCT05989620	Not specified	RECRUITING	Long-Term Development of Muscular Dystrophy Outcome Assessments