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

Fortitude OLE

A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

Investigator: Sub Subramony
Status: Accepting Candidates
Ages: 16 Years - 70 Years
Sexes: All

ARTHREX

The goal of this clinical trial is to test ATX-01 in participants with myotonic dystrophy type 1 (DM1). The main question it aims to answer is if ATX-01 is safe and well tolerated. The trial will compare the safety and tolerability of ATX-01 and a鈥�

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

JIVE (LARIMAR)

To evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of subcutaneous (SC) administration of CTI-1601 over 28 days in subjects with Friedreich's ataxia (FRDA).

Investigator: Sub Subramony
Status: Accepting Candidates
Ages: 18 Years - N/A
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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