Welcome to our clinical trials team for rare genetic diseases at Mount Sinai! We are a multi-disciplinary team of coordinators, genetic counselors, and dietitians.
My Primary Studies
Longitudinal Study of the Porphyrias
Identification of Acute Intermittent Porphria Modifying Genes
A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Pegtibatinase As an Enzyme Therapy for Patients with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)
A Phase 3 Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)
Lysosomal Storage Diseases Biorepository
Multi-omics Study in Citrin Deficiency
A Phase 2b, Multicenter, Double-blind, Randomized, Placebo Controlled Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 Administered Intravenously to Participants With PMM2-CDG (POLAR Trial)
Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of Treatment for Krabbe Disease, Pompe Disease, and Mucopolysaccharidosis Type 1
Molecular and Enzymatic Characterization of Inherited Metabolic Diseases
A Post-Authorization Safety Study (PASS) to Assess Long-term Safety in Patients with Pompe Disease Treated with Avalglucosidase alfa in the Real-World Setting: the SAVANT (Safety assessment of Avalglucosidase Alfa as a Novel Treatment) study
My Secondary Studies
APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP)
Alyne Restrepo 
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