Sub Subramony, MD - Research

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

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鈥�

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

My publications

183 publications

2022

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.

Muscle & nerve

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2022

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.

Orphanet journal of rare diseases

鈥�

2022

Inherited Ataxias in Children.

Pediatric neurology

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2022

Natural History of Friedreich Ataxia

Neurology

2022

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Neurology

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