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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 , 30 publications
  • Friedreich Ataxia , 23 publications
  • Phenotype , 18 publications
  • Spinocerebellar Degenerations , 17 publications

Research activity

183 publications

9,381 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

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…

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

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

My publications

183 publications

2023

Friedreich's Ataxia-ÍøºìºÚÁÏ Index

Neurology Clinical Practice

2023

Patient-Reported Impact of Symptoms in Friedreich Ataxia

Neurology

2023

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

Cerebellum (London, England)

•

2022

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

PloS one

•

2022

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

Frontiers in molecular biosciences

•