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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

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
Vertex
Investigator
Sub Subramony
Status
Accepting Candidates
Avidity FSHD

A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral…

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

My publications

183 publications

2024

A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia.

Cerebellum (London, England)

•

2024

Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.

Movement disorders clinical practice

•

2024

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study

Annals of Clinical and Translational Neurology

•

2024

Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.

Movement disorders clinical practice

•

2024

Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.

Journal of neurology

•