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prenatal-onset spinal muscular atrophy with congenital bone fractures (SMABF) - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

prenatal-onset spinal muscular atrophy with congenital bone fractures

MONDO:0000209

Also known as:SMABFspinal muscular atrophy with congenital bone fractures

Overview

OnsetANTENATAL, CONGENITAL

Treatments3 FDA approved, incl. 1 gene therapy

ResearchLimited published research (4 articles)

Diagnosis

Biomarker and diagnostic research for prenatal-onset spinal muscular atrophy with congenital bone fractures has been reported in the published literature.

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 prenatal-onset spinal muscular atrophy with congenital bone fractures, 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 prenatal-onset spinal muscular atrophy with congenital bone fractures.

4 publications have been identified in PubMed for prenatal-onset spinal muscular atrophy with congenital bone fractures. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Civit A (2026). [PMID: 41230573](https://pubmed.ncbi.nlm.nih.gov/41230573/). *American journal of medical genetics. Part A*. [Gene Therapy / Novel Therapeutics]
Coppens S (2025). [PMID: 39853809](https://pubmed.ncbi.nlm.nih.gov/39853809/). *Annals of neurology*. [Case Report / Case Series]
Nishio H (2024). [PMID: 39457418](https://pubmed.ncbi.nlm.nih.gov/39457418/). *Genes*. [Epidemiology / Natural History]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome medicine*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 8:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Financial & Access Support (External Programs)

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Spinal Muscular Atrophy Program

Premium/CopayClosedOperated by Good Days

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:486811

GARD

Genetic and Rare Diseases Info Center

GARD:17882

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 prenatal-onset spinal muscular atrophy with congenital bone fractures?
→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

prenatal-onset spinal muscular atrophy with congenital bone fractures

Overview

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Recent Publications

Patient Support

Financial & Access Support (External Programs)

Are you a patient organization for this condition?

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials