Spinal cord disorder
diseaseOn this page
Also known as disease of spinal corddisease of the spinal corddisease or disorder of spinal corddisorder of spinal cordspinal cord diseasespinal cord disease or disorder
Summary
Spinal cord disorder (MONDO:0002545) is a disease (an umbrella term covering 10 Mondo subtypes) with 3 GWAS associations across 11 studies and 67 clinical trials. Top therapeutic interventions include solifenacin, testosterone enanthate, and finasteride. A subtype of central nervous system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 10 Mondo subtypes
- GWAS associations: 3
- Clinical trials: 67
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | spinal cord disorder |
| Mondo ID | MONDO:0002545 |
| EFO | EFO:0009488 |
| MeSH | D013118 |
| DOID | DOID:319 |
| NCIT | C97110 |
| SNOMED CT | 48522003 |
| UMLS | C0037928 |
| MedGen | 11550 |
| Anatomy (UBERON) | UBERON:0002240 |
| Is cancer (heuristic) | no |
Also known as: disease of spinal cord · disease of the spinal cord · disease or disorder of spinal cord · disorder of spinal cord · spinal cord disease · spinal cord disease or disorder · spinal cord disorder
Data availability: 3 GWAS associations (11 studies).
Disease family
This is a subtype of central nervous system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › spinal cord disorder
Related subtypes (18): autoimmune disorder of central nervous system, autonomic nervous system disorder, optic nerve disorder, high pressure neurological syndrome, central nervous system vasculitis, encephalomyelitis, neurodegenerative disease, brain disorder, central nervous system neoplasm, palsy, trigeminal neuralgia, infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, sporadic fetal brain disruption sequence, congenital narrowing of cervical spinal canal, central nervous system infectious disorder, cerebrospinal fluid leak, SPAST-related motor disorder, tinnitus
Subtypes (10): vascular myelopathy, myelitis, anterior horn disorder, tethered spinal cord syndrome, spina bifida, syringomyelia, radiation myelitis, spinal cord neoplasm, spinal cord injury, segmental spinal dysgenesis
Genetics & variants
GWAS landscape
3 GWAS associations across 11 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs556939700 | 2e-12 | PRR11 | G | 2.63 |
| rs567436107 | 8e-12 | ALG9 | C | 2.8 |
| rs9804762 | 5e-08 | RASSF8 - BHLHE41 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477518 | Verma A | 2024 | 3,760 | 442,527 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473370 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,968 | 456,472 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90435910 | Zhou W | 2018 | 1,789 | 395,209 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477517 | Verma A | 2024 | 1,184 | 119,154 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480013 | Verma A | 2024 | 1,184 | 119,154 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079859 | Backman JD | 2021 | 815 | 386,806 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083845 | Backman JD | 2021 | 815 | 386,806 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90651690 | Liu TY | 2025 | 429 | 218,635 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90481867 | Verma A | 2024 | 389 | 58,960 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90013877 | Mbatchou J | 2021 | 0 | 0 | Computationally efficient whole-genome regression for quantitative and binary traits. |
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 | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 2 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs556939700 | 17 | 59165656 | G>A,T | 0 | intron_variant | PRR11 | 2e-12 | Tier 4: intronic/intergenic |
| rs567436107 | 11 | 111811307 | C>T | 0 | intron_variant | ALG9 | 8e-12 | Tier 4: intronic/intergenic |
| rs9804762 | 12 | 26084738 | G>C,T | 0.05 | intergenic_variant | RASSF8 - BHLHE41 | 5e-08 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Baclofen | Approved (phase 4) |
| Ibudilast | Phase 3 (in late-stage trials) |
| Limaprost | Phase 3 (in late-stage trials) |
| Riluzole | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Rituximab.
Clinical trials & evidence
Clinical trials
Clinical trials: 67.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 53 |
| PHASE2 | 6 |
| PHASE4 | 2 |
| PHASE3 | 2 |
| PHASE2/PHASE3 | 2 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00629642 | PHASE4 | COMPLETED | Clinical Study of Solifenacin Succinate in Patients With Bladder Symptoms Due to Spinal Cord Injury or Multiple Sclerosis |
| NCT01052337 | PHASE4 | UNKNOWN | Anesthesia Induction in Patients Undergoing Surgery for Cervical Myelopathy |
| NCT04631471 | PHASE3 | RECRUITING | Regeneration in Cervical Degenerative Myelopathy |
| NCT01202227 | PHASE3 | COMPLETED | An Open-Label Long-Term Study Of Pregabalin For The Treatment Of Central Neuropathic Pain |
| NCT01555983 | PHASE2/PHASE3 | COMPLETED | Vaporized Cannabis and Spinal Cord Injury Pain |
| NCT03503513 | PHASE2/PHASE3 | COMPLETED | Gentamicin Bladder Instillations to Prevent Urinary Tract Infections in Patients With Spinal Cord Injury |
| NCT04460872 | PHASE2 | RECRUITING | Locomotor Training With Testosterone to Promote Bone and Muscle Health After Spinal Cord Injury |
| NCT06981338 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Guttmann NeuroRecovery - Viability, Safety, and Efficacy of Intrathecal Wharton’s Jelly Mesenchymal Stem Cells and Transcutaneous Spinal Cord Stimulation in Chronic Spinal Cord Injury Rehabilitation |
| NCT00001785 | PHASE2 | COMPLETED | Recombinant Human Interferon Beta-1a (Avonex) for the Treatment of Patients With HTLV-1-Associated Myelopathy (HAM) |
| NCT00862459 | PHASE2 | COMPLETED | Dose Finding Study of Gadavist in Central Nervous System (CNS) Magnetic Resonance Imaging (MRI) |
| NCT02248701 | PHASE2 | TERMINATED | Testosterone Plus Finasteride Treatment After Spinal Cord Injury |
| NCT03127514 | PHASE2 | COMPLETED | AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS) |
| NCT05870189 | PHASE2 | COMPLETED | Remotely Delivered Cognitive Multisensory Rehabilitation for Sensory and Motor Recovery After Spinal Cord Injury |
| NCT06817577 | PHASE1 | RECRUITING | NG004 in Spinal Cord Injury Patients |
| NCT03225625 | Not specified | ENROLLING_BY_INVITATION | Stem Cell Spinal Cord Injury Exoskeleton and Virtual Reality Treatment Study |
| NCT04380649 | Not specified | ACTIVE_NOT_RECRUITING | Development and Test of a Headset for BCI Until Obtaining an Efficient and Comfortable System That Can be Used in Daily Practice by ALS People |
| NCT05023772 | Not specified | RECRUITING | Laser Interstitial Thermal Ablation and Stereotactic Radiosurgery for Patients With Spine Metastases |
| NCT05506657 | Not specified | NOT_YET_RECRUITING | Early Intervention to Promote Return to Work for People With Spinal Cord Injury |
| NCT05508802 | Not specified | NOT_YET_RECRUITING | Interventional Cooperative Agreement Program - Vocational Intervention Demonstration |
| NCT05589415 | Not specified | ACTIVE_NOT_RECRUITING | Targeted HD-tDCS to Improve Upper Limb Rehabilitation in SCI |
| NCT05669508 | Not specified | ACTIVE_NOT_RECRUITING | Wearable Electrical Stimulation on the Back to Modulate Spinal Cord Activity |
| NCT05725499 | Not specified | RECRUITING | The Effect of Transcutaneous Stimulation on Blood Pressure in Spinal Cord Injury (SCI) |
| NCT05731986 | Not specified | RECRUITING | Spinal Cord Transcutaneous Stimulation Effect on Blood Pressure in Acute Spinal Cord Injury (SCI) |
| NCT05744310 | Not specified | RECRUITING | Effects of Long Term Ventilation Support on the Quality of Life of ALS Patients and Their Families |
| NCT05776030 | Not specified | RECRUITING | Multi-speed Ergonomic Wheelchair |
| NCT06066918 | Not specified | RECRUITING | Prophylactic Pregabalin Treatment Following Spinal Cord Injury |
| NCT06698224 | Not specified | NOT_YET_RECRUITING | Paired Spinal Cord and Peripheral Nerve Stimulation to Recover Hand Function in SCI |
| NCT06891690 | Not specified | RECRUITING | Use of TDCS Stimulation in Neurological and Gynaecological Conditions |
| NCT07099625 | Not specified | NOT_YET_RECRUITING | Optimization of Adaptive Rowing Seating |
| NCT07364773 | Not specified | RECRUITING | Enhancing Rehabilitation Participation in Patients With SCI/D Using Motivational Interviewing |
| NCT07412808 | Not specified | NOT_YET_RECRUITING | Spinal Cord Stimulation Combined With Motor Training in Non-Traumatic SCI: A Prospective Interventional Study |
| NCT07430904 | Not specified | NOT_YET_RECRUITING | Empowerment Program to Reduce Treatment of Asymptomatic Bacteriuria in Veterans With Spinal Cord Injury |
| NCT00001364 | Not specified | COMPLETED | Evaluation and Treatment of Patients Spinal Blood Vessel Abnormalities |
| NCT00116337 | Not specified | COMPLETED | Spinal Cord Stimulation to Restore Cough |
| NCT00447343 | Not specified | COMPLETED | Reorganization of Brain Functions in Patients With Cervical Myelopathy Using fMRI and MRS |
| NCT00951509 | Not specified | COMPLETED | Virtual Reality Based Testing of Power Wheelchair Driving Skills |
| NCT00995215 | Not specified | COMPLETED | Sub-study to Spinal Cord Stimulation to Restore Cough |
| NCT01324622 | Not specified | TERMINATED | Comparison of Cervical Laminectomy to Laminoplasty |
| NCT01495390 | Not specified | COMPLETED | A Longitudinal Study of Amyotrophic Lateral Sclerosis (ALS) Biomarkers |
| NCT01659541 | Not specified | COMPLETED | Stimulation With Wire Leads to Restore Cough |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SOLIFENACIN | 4 | 3 |
| TESTOSTERONE ENANTHATE | 4 | 2 |
| FINASTERIDE | 4 | 1 |
| GENTAMICIN SULFATE | 4 | 1 |
| IBUDILAST | 4 | 1 |
| OXYBUTYNIN CHLORIDE | 4 | 1 |
| CHEMBL1087542 | 0 | 1 |
| CHEMBL4204890 | 0 | 1 |
| CHEMBL4777013 | 0 | 1 |