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Sub Subramony, MD : Research

Neuromuscular Medicine Specialist

Additional languages:
Hindi,
Malayalam,
Tamil
Photo of Sub Subramony

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

Why is this important?

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

2023

Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure.

Neurology. Clinical practice

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2023

Patient-Reported Impact of Symptoms in Friedreich Ataxia.

Neurology

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2023

The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

Cerebellum (London, England)

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2022

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.

PloS one

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2022

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.

Frontiers in molecular biosciences

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