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amyotrophic lateral sclerosis type 1 (ALS1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic lateral sclerosis type 1

MONDO:0007103

Also known as:ALS1amyotrophic lateral sclerosis 1FALS

Find Clinical TrialsTrials

Overview

GeneticsAutosomal recessive, Autosomal dominant · SOD1 (chr 21)

Clinical Trials187 registered · 99 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Skeletal muscle atrophy, Difficulty swallowing (dysphagia), Degeneration of anterior horn cells, and Dysarthria and 9 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Difficulty swallowing (dysphagia), Dysarthria, Fasciculations

Genetic Landscape

SOD1 function has not been fully characterized.

Amyotrophic lateral sclerosis type 1 is caused by mutations in the SOD1 gene on chromosome 21.

Diagnosis

Genetic testing for SOD1 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

187 clinical trials registered, 99 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and procedural interventions. Pipeline includes 1 PHASE4, 7 PHASE3, 21 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06172621](https://clinicaltrials.gov/study/NCT06172621)

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

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Amyotrophic Lateral Sclerosis Fund

Premium/CopayCurrently AcceptingOperated by HealthWell Foundation

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Program availability and eligibility requirements are set by each foundation. Contact them directly to learn more about your options.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:105400

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 187 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Laboratory research	8	42%
Disease patterns and progression	4	21%
Research summaries	3	16%
Patient case studies	2	11%
Other research	1	5%
New treatment approaches	1	5%

Kisho

amyotrophic lateral sclerosis type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

amyotrophic lateral sclerosis type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications