Familial amyotrophic lateral sclerosis

Summary

Familial amyotrophic lateral sclerosis (MONDO:0005144) is a disease (an umbrella term covering 30 Mondo subtypes) and 5 clinical trials. Top therapeutic interventions include pyrimethamine and isis-333611. A subtype of amyotrophic lateral sclerosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 30 Mondo subtypes
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	familial amyotrophic lateral sclerosis
Mondo ID	MONDO:0005144
EFO	EFO:0001356
OMIM	105400
UMLS	C4551993
MedGen	1642547
GARD	0024155
Is cancer (heuristic)	no

Also known as: hereditary amyotrophic lateral sclerosis

Disease family

This is a subtype of amyotrophic lateral sclerosis. 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 › anterior horn disorder › amyotrophic lateral sclerosis › familial amyotrophic lateral sclerosis

Related subtypes (3): sporadic amyotrophic lateral sclerosis, amyotrophic lateral sclerosis with polyglucosan bodies, progressive muscular atrophy

Subtypes (30): amyotrophic lateral sclerosis type 1, frontotemporal dementia and/or amyotrophic lateral sclerosis 1, spinocerebellar ataxia type 2, amyotrophic lateral sclerosis type 15, frontotemporal dementia and/or amyotrophic lateral sclerosis 7, amyotrophic lateral sclerosis type 4, amyotrophic lateral sclerosis type 21, amyotrophic lateral sclerosis type 3, amyotrophic lateral sclerosis type 6, amyotrophic lateral sclerosis type 7, amyotrophic lateral sclerosis type 8, amyotrophic lateral sclerosis type 9, amyotrophic lateral sclerosis type 10, amyotrophic lateral sclerosis type 11, amyotrophic lateral sclerosis type 12, frontotemporal dementia and/or amyotrophic lateral sclerosis 6, amyotrophic lateral sclerosis type 18, amyotrophic lateral sclerosis type 20, amyotrophic lateral sclerosis type 19, frontotemporal dementia and/or amyotrophic lateral sclerosis 2, amyotrophic lateral sclerosis type 22, frontotemporal dementia and/or amyotrophic lateral sclerosis 3, frontotemporal dementia and/or amyotrophic lateral sclerosis 4, juvenile amyotrophic lateral sclerosis, amyotrophic lateral sclerosis type 23, frontotemporal dementia and/or amyotrophic lateral sclerosis 8, frontotemporal dementia and/or amyotrophic lateral sclerosis 5, amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, amyotrophic lateral sclerosis 27, juvenile, amyotrophic lateral sclerosis 28

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE1/PHASE2	1
PHASE1	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01083667	PHASE1/PHASE2	COMPLETED	SOD1 Inhibition by Pyrimethamine in Familial Amyotrophic Lateral Sclerosis (ALS)
NCT01041222	PHASE1	COMPLETED	Safety, Tolerability, and Activity Study of ISIS SOD1Rx to Treat Familial Amyotrophic Lateral Sclerosis (ALS) Caused by SOD1 Gene Mutations
NCT03707795	EARLY_PHASE1	COMPLETED	Treatment of FUS-Related ALS With Betamethasone - The TRANSLATE Study
NCT00821132	Not specified	COMPLETED	Genetics of Familial and Sporadic ALS
NCT05725759	Not specified	UNKNOWN	Rehabilitation in SOD1 ALS Treated With Tofersen

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PYRIMETHAMINE	4	1
ISIS-333611	1	1