Sub Subramony, MD - Research

Research at a glance

Top areas of exploration

Spinocerebellar Ataxias , 31 publications
Friedreich Ataxia , 29 publications
Phenotype , 19 publications
Spinocerebellar Degenerations , 17 publications

Research activity

178 publications

9,337 citations

Focus

My key research interests include phenotypic characterization, phenotype-genotype correlations and pathogenic mechansims in genetically induced cerebellar ataxias and muscular dystrophies. In addition, I also am interested in developing assessment methods, biomarker discovery and therapeutic modalities for such diseases.

Active clinical trials

Vertex Drug

The purpose of the study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses in participants with DM1.

Investigator: Sub Subramony
Status: Accepting Candidates
Ages: 18 Years - 64 Years
Sexes: All

HARBOR

A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC 1001) for the Treatment of Myotonic Dystrophy Type 1

Investigator: Sub Subramony
Status: Accepting Candidates
Ages: 16 Years - 65 Years
Sexes: All

Frataxin

The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA). The gene mutation in FRDA leads to low levels of鈥�

Investigator: Sub Subramony
Status: Accepting Candidates
Ages: 18 Years - 65 Years
Sexes: All

My publications

178 publications

2024

Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.

Neurology. Clinical practice

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2024

Perspectives of the Friedreich ataxia community on gene therapy clinical trials.

Molecular therapy. Methods & clinical development

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2024

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.

Annals of clinical and translational neurology

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2024

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Annals of clinical and translational neurology

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2024

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

medRxiv : the preprint server for health sciences

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