Minimal change disease

Summary

Minimal change disease (MONDO:0006835) is a disease with 1 cohort gene and 29 clinical trials. Top therapeutic interventions include prednisolone, tacrolimus anhydrous, and alfacalcidol.

At a glance

• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 29

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	minimal change disease
Mondo ID	MONDO:0006835
EFO	EFO:1001020
MeSH	D009402
DOID	DOID:10966
NCIT	C34844
SNOMED CT	44785005
UMLS	C0027721
MedGen	10307
GARD	0009147
MedDRA	10058325
Is cancer (heuristic)	no

Also known as: idiopathic minimal change nephrotic syndrome · lipoid nephrosis · MCNS · minimal change disease · minimal change glomerulonephritis · minimal change glomerulopathy · minimal change nephropathy · minimal change nephrotic syndrome · nephrotic syndrome with lesion of minimal change glomerulonephritis · nil disease

Data availability: 1 ClinVar variant · 6 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › nephritis › glomerulonephritis › minimal change disease

Related subtypes (19): acute poststreptococcal glomerulonephritis, membranoproliferative glomerulonephritis, exudative glomerulonephritis, proliferative glomerulonephritis, focal embolic glomerulonephritis, anti-basement membrane glomerulonephritis, diffuse glomerulonephritis, subacute glomerulonephritis, mesangial proliferative glomerulonephritis, immune-complex glomerulonephritis, IgA glomerulonephritis, membranous glomerulonephritis, lupus nephritis, granulomatosis with polyangiitis, rapidly progressive glomerulonephritis, primary membranoproliferative glomerulonephritis, Pauci-immune glomerulonephritis, immunotactoid glomerulopathy, autoimmune glomerulonephritis

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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
812901	NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)	LMX1B	Pathogenic/Likely pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
LMX1B	Orphanet:2613	Nail-patella-like renal disease
LMX1B	Orphanet:2614	Nail-patella syndrome
LMX1B	Orphanet:495818	9q33.3q34.11 microdeletion syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
LMX1B	HGNC:6654	ENSG00000136944	O60663	LIM homeobox transcription factor 1-beta	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
LMX1B	LIM homeobox transcription factor 1-beta	Transcription factor involved in the regulation of podocyte-expressed genes.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
LMX1B	Transcription factor	no		HD, Znf_LIM, Homeodomain-like_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1
sural nerve	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LMX1B	74	broad	marker	sural nerve, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LMX1B	1,514

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
LMX1B	O60663	70.79

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
dopaminergic neuron differentiation	1	624.1×	0.007	LMX1B
dorsal/ventral pattern formation	1	421.3×	0.007	LMX1B
neuron differentiation	1	100.3×	0.020	LMX1B
regulation of DNA-templated transcription	1	31.6×	0.048	LMX1B
positive regulation of transcription by RNA polymerase II	1	14.9×	0.081	LMX1B
regulation of transcription by RNA polymerase II	1	11.7×	0.086	LMX1B

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Tacrolimus Anhydrous.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
LMX1B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

0 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.

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
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	1	LMX1B

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
LMX1B	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 29.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	14
PHASE2	7
PHASE4	3
PHASE2/PHASE3	3
PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00982072	PHASE4	COMPLETED	Tacrolimus Versus Prednisolone for the Treatment of Minimal Change Disease
NCT01763580	PHASE4	COMPLETED	A Study to Evaluate the Effect of Tacrolimus and Corticosteroid Combination Therapy in Patients With Minimal Change Nephrotic Syndrome
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT06405100	PHASE3	NOT_YET_RECRUITING	Efficacy and Safety of Tacrolimus in Combination With Ripertamab in the Initial Treatment of Patients With MCD
NCT07499700	PHASE2/PHASE3	RECRUITING	A Clinical Study of BAT4406F Injection in Patients With Minimal Change Disease/Focal Segmental Glomerulosclerosis
NCT01084980	PHASE2/PHASE3	COMPLETED	Therapeutic Effect of Tacrolimus in Combination With Low Dose Corticosteroid in Adult Patient With Minimal Change Nephritic Syndrome
NCT02896270	PHASE2/PHASE3	UNKNOWN	Valproic Acid for Idiopathic Nephrotic Syndrome
NCT03298698	PHASE3	UNKNOWN	Efficacy of Rituximab in Comparison to Continued Corticosteroid Treatment in Idiopathic Nephrotic Syndrome
NCT05003986	PHASE2	RECRUITING	Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases
NCT06466135	PHASE2	RECRUITING	Study of WAL0921 in Patients With Glomerular Kidney Diseases
NCT07614477	PHASE2	RECRUITING	Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of EVER001 in Participants With Selected Proteinuric Glomerular Diseases
NCT02592798	PHASE2	COMPLETED	Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD)
NCT03970577	PHASE2	UNKNOWN	RItuximab From the FIRst Episode of Idiopathic Nephrotic Syndrome
NCT04009668	PHASE2	COMPLETED	Tumor Necrosis Factor Inhibition in Focal Segmental Glomerulosclerosis and Treatment Resistant Minimal Change Disease
NCT05441826	PHASE2	TERMINATED	Efficacy and Safety of VB119 in Subjects With Minimal Change Disease (MCD) and Focal Segmental Glomerulosclerosis (FSGS)
NCT01209000	Not specified	RECRUITING	Nephrotic Syndrome Study Network
NCT03929887	Not specified	RECRUITING	KOrea Renal Biobank NEtwoRk System TOward NExt-generation Analysis
NCT03949972	Not specified	RECRUITING	The FOrMe Registry (The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry)
NCT04571658	Not specified	RECRUITING	NEPTUNE Match Study
NCT05505500	Not specified	RECRUITING	Interview Study of Adult and Child Patients and Parents of Children With Swelling Due to Nephrotic Syndrome.
NCT05583942	Not specified	RECRUITING	A Pilot Trial of taVNS for SRNS in Children (kidNEY-VNS)
NCT05588063	Not specified	RECRUITING	taVNS for FRNS in Children
NCT05650619	Not specified	RECRUITING	Recurrence Post-transplant Observational Study in Focal Segmental Glomerulosclerosis and Minimal Change Disease
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT06315504	Not specified	NOT_YET_RECRUITING	Circulating Factors in Nephrotic Syndrome
NCT07516964	Not specified	RECRUITING	SLIT ABS: Study on Patients With Autoimmune Podocytopathy
NCT03068572	Not specified	UNKNOWN	Diagnostic Value of Linked Color Imaging for Minimal Change Esophagitis in Nonerosive Reflux Esophagitis and GERD
NCT04235621	Not specified	TERMINATED	A Study to Understand the Genetics and Clinical Course of Focal Segmental Glomerulosclerosis (FSGS), Treatment-Resistant Minimal Change Disease (TR-MCD), and Diabetic Nephropathy (DN)
NCT04369183	Not specified	COMPLETED	Rituximab for Refractory or Relapsed Focal Segmental Glomerulosclerosis or Minimal Change Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PREDNISOLONE	4	3
TACROLIMUS ANHYDROUS	4	2
ALFACALCIDOL	4	1
DEXTROSE	4	1
SPARSENTAN	4	1
VALPROIC ACID	4	1
RIPERTAMAB	3	1
BUDOPRUTUG	2	1
CHEMBL4564923	0	1