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early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

MONDO:0044651

Overview

Treatments3 FDA approved, incl. 1 gene therapy

ResearchLimited published research (1 article)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

3 FDA-approved treatments are available for early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

No clinical trials have been registered for early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome.

1 publication has been identified in PubMed for early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Joffily L (2026). [PMID: 40790250](https://pubmed.ncbi.nlm.nih.gov/40790250/). *Ear Hear*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:496756

GARD

Genetic and Rare Diseases Info Center

GARD:17914

Questions for Your Care Team

→What are the eligibility criteria and monitoring requirements for Zolgensma?
→What are the benefits and potential side effects of SPINRAZA for managing early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome?
→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

early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Overview

Treatment

Approved Therapies

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials