TDP-43 proteinopathy

Summary

TDP-43 proteinopathy (MONDO:0700038) is a disease and 6 clinical trials. Top therapeutic interventions include rotigotine. A subtype of proteostasis deficiencies — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	TDP-43 proteinopathy
Mondo ID	MONDO:0700038
MeSH	D057177
UMLS	C2718017
MedGen	439336
Is cancer (heuristic)	no

Disease family

This is a subtype of proteostasis deficiencies. 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 developmental or physiological process › metabolic disease › proteostasis deficiencies › TDP-43 proteinopathy

Related subtypes (3): synucleinopathy, amyloidosis, SQSTM1-related multisystem proteinopathy

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

No tiered GWAS variants or ClinVar records for this disease.

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT04937452	PHASE2	COMPLETED	Dopaminergic Therapy for Frontotemporal Dementia Patients
NCT06891716	EARLY_PHASE1	RECRUITING	[18F]ACI-19626 PET in TDP-43 Proteinopathies
NCT05744310	Not specified	RECRUITING	Effects of Long Term Ventilation Support on the Quality of Life of ALS Patients and Their Families
NCT06596746	Not specified	RECRUITING	Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
NCT02860338	Not specified	COMPLETED	COMPARATIVE EFFECTIVENESS OF MCI and DEMENTIA TREATMENTS IN A COMMUNITY-BASED DEMENTIA PRACTICE

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ROTIGOTINE	4	1
CHEMBL104383	0	1