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Roberto Giugliani, MD is an expert in Genetics at Hospital de Clínicas de Porto Alegre (Brazil). As of October 2026, ScienceLeadR ranks Roberto Giugliani in the top 1% of experts worldwide for Lipid Metabolism Disorders, Metabolism, Inborn Errors and Brain Diseases, Metabolic. Roberto Giugliani has authored 980 publications, the most recent in 2026, and is an investigator in 19 clinical trials, 4 of them ongoing. SLR score: 2,700 (community average: 125). How the SLR is computed.

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Roberto Giugliani, MD Hospital de Clínicas de Porto Alegre Brazil
2 700 ScienceLeadR Reputation 2700

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Genetics

Subspecialties: Internal Medicine - Neurology - Biochemistry

Full career – Last 3 years

Main Topics

Publications and Clinical Studies

Publications – Clinical Studies

Profile data updated on

Organizations

Career arc: 1989 - 2026
Source: PubMed

Federal University of Rio Grande do Sul

Publications Synthesis

Sources: PubMed, OpenAlex

Number : 980

Citations

Citations: 24 833 1st author: 101 Last author: 239 Unique author: 4

Main journals

Mol Genet Metab 288
J Inherit Metab Dis 43
Genet Mol Biol 40
Orphanet J Rare Dis 37
Mol Genet Metab Rep 24

Best Journals

Lancet 1
N Engl J Med 1
Nat Genet 1

Breakdown by type

Click a legend label to hide or show it in the chart.

Latest Publications

5 most recent indexed articles

Source: Pubmed

Title Journal Year Citations
The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.
PMID 42616279 — genome, cerebellum, ataxia, diagnosis, exome, history		Cerebellum20260
Variant profile of Brazilian patients with Sanfilippo syndrome type B.
PMID 42378005 — genes, mucopolysaccharidosis iii, enzymes, alleles		Genet Mol Biol20260
The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidoses or Niemann-Pick type C disease.
PMID 42308595 — gangliosidoses, gm2, safety, metabolic diseases, niemann-pick disease, type c, signs and symptoms, niemann-pick diseases, seizures, gangliosidoses, plasma		Mol Genet Metab20260
An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.
PMID 42251390 — mucopolysaccharidoses, caregivers, mucopolysaccharidosis ii, therapeutics		BMC Health Serv Res20260
Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.
PMID 42138965 — muscular atrophy, parturition, atrophy, incidence, neonatal screening, muscular atrophy, spinal, live birth, spine		Genet Mol Biol20260

Clinical Studies 19

Sources: ClinicalTrials, EU CTIS

Synthesis

Principal Investigator: 6

By phase:

Phase 3 5
Phase 1/Phase 2 4
Phase 2 4
N/A 3
Phase 2/Phase 3 2
Phase 4 1

By status:

Completed 13
Active not recruiting 3
Recruiting 3

By type:

Interventional 16
Observational 3

By Monocentric/Multicentric:

monocentric 3
multicentric2to4 4
multicentric5to9 6
multicentricup10 6

Main Topics

Ongoing Clinical Trials

4 ongoing trials started since 2021, where this expert is an investigator

Source: ClinicalTrials

Study Phase Status Start
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ 3102) in Patients With GM2 Gangliosidosis or Niemann Pick Type C Disease
NCT07399704 — gangliosidoses, gm2, safety, tablets, niemann-pick disease, type c, niemann-pick diseases, gangliosidoses, pick disease of the brain, pharmacokinetics		Phase 2Recruiting2026
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ 3102) in Late infantile and Juvenile Forms of Niemann Pick Type C Disease GM1 Gangliosidosis or GM2 Gangliosidosis
NCT07054515 — gangliosidoses, gm2, safety, tablets, niemann-pick disease, type c, niemann-pick diseases, gangliosidoses, pick disease of the brain, gangliosidosis, gm1		Phase 3Recruiting2025
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ 3102) in Late infantile and Juvenile Forms of Niemann Pick Type C Disease (NPC)
NCT07082725 — gangliosidoses, gm2, safety, niemann-pick disease, type c, niemann-pick diseases, gangliosidoses, pick disease of the brain, gangliosidosis, gm1		Phase 3Recruiting2025
A Clinical Trial of PRAX 222 in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy
NCT05737784 — oligonucleotides, antisense, epilepsy, safety, oligonucleotides, voltage-gated sodium channels, nav1.2 voltage-gated sodium channel, voltage-gated sodium channel blockers, brain diseases, maximum tolerated dose, sodium channel blockers, sodium channels		Phase 1/Phase 2Active not recruiting2023

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Sources: PubMed, OpenAlex, ClinicalTrials, EU CTIS