Research Impact

h-index

N/A

Research impact score

Publications

0

Total publications

Trial Results

0

Published trial results

Citations

0

Total citations

Drug Portfolio

Analytics

Trial Phases

Phase 13
Phase 23

Trial Status

Completed8
Recruiting4

Role Distribution

Principal Investigator12
PI Rate100%

Activity Timeline

Clinical Trials (12)

NCT01417533Completed
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
GNE MyopathyGNE Related Diseases
PrincipalinvestigatorStart date: 2011-09-14
NCT00013559Completed
Natural History Study of Smith-Magenis Syndrome
Smith-Magenis Syndrome (SMS)
PrincipalinvestigatorStart date: 2001-03-19
NCT00359684Recruiting
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis
PrincipalinvestigatorStart date: 1979-01-04
NCT00369421Recruiting
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Arterial Calcification Due to Deficiency of CD73
PrincipalinvestigatorStart date: 1978-09-12
NCT00094393Completed
Clinical Studies of Progeria
Progeria
Principalinvestigator
NCT00195637Phase 1Completed
Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
Hereditary Inclusion Body Myopathy
Principalinvestigator
NCT00506259Phase 1Completed
Treatment Strategies for Children With Smith-Magenis Syndrome
Chromosome DeletionDevelopmental Delay DisordersMental Retardation+2 more
Principalinvestigator
NCT00889174Completed
The Nosology and Etiology of Leukodystrophies of Unknown Causes
LeukodystrophyLeukoencephalopathy
Principalinvestigator
NCT01642056Phase 1/2Completed
EPI-743 for Metabolism or Mitochondrial Disorders
Mitochondrial DiseaseMyopathyNeurology
Principalinvestigator

Showing 10 of 12 trials

Research Network

Collaboration Network

1 collaborators·0 connections
Network Legend
KOL
Current Investigator
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High-influence Collaborator
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Similar Key Opinion Leaders

Discover other key opinion leaders with similar research profiles, therapeutic areas, and collaboration networks.

10 similar investigators found

Leslie G Biesecker, M.D.

National Human Genome Research Institute (NHGRI)

Related
10 trials

Shared therapeutic areas:

Hereditary DiseasesIntellectual Disability

Worked with same sponsors:

National Human Genome Research Institute (NHGRI)
Similarity Score3%

Jack A Yanovski, M.D.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Related
23 trials

Shared therapeutic areas:

Intellectual DisabilityHereditary Diseases
Similarity Score3%

Farid Boulad, MD

Memorial Sloan Kettering Cancer Center

Related
7 trials

Shared therapeutic areas:

Hereditary Diseases
Similarity Score1%

ALFONS SEGARRA, MD, PhD

Hospital Universitari Vall d´Hebron, Barcelona. Spain

Related
1 trials

Shared therapeutic areas:

Glomerulonephritis, Membranous
Similarity Score1%

JORGE ROJAS, MD

IIS Fundación Jiménez Díaz, Madrid. Spain

Related
1 trials

Shared therapeutic areas:

Glomerulonephritis, Membranous
Similarity Score1%

Hamid Gourabi, PhD

head of Royan Institute

Related
52 trials

Shared therapeutic areas:

Glomerulosclerosis, Focal Segmental
Similarity Score1%

RIVERA FRANCISCO, MD

Hospital de Ciudad Real. Spain

Related
1 trials

Shared therapeutic areas:

Glomerulonephritis, Membranous
Similarity Score1%

ANANT E BAGUL, MS ORTHO

Chaitanya Hospital

Related
7 trials

Shared therapeutic areas:

Intellectual Disability
Similarity Score1%

GALEANO CRISTINA, MD

Hospital Universitario Ramón y Cajal, Madrid. Spain

Related
1 trials

Shared therapeutic areas:

Glomerulonephritis, Membranous
Similarity Score1%

Charlie Strange, MD

Medical University of South Carolina

Related
6 trials

Shared therapeutic areas:

Hereditary Diseases
Similarity Score1%

Publications (0)

No publications found for this investigator.

Clinical Trials (12)

Showing 12 of 12 trials

NCT02450851PrincipalInvestigator

Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Genetic Disease
Recruiting
NCT01417533PrincipalInvestigator

A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases

GNE MyopathyGNE Related Diseases
Completed
NCT00013559PrincipalInvestigator

Natural History Study of Smith-Magenis Syndrome

Smith-Magenis Syndrome (SMS)
Completed
NCT00359684PrincipalInvestigator

Use of Cysteamine in the Treatment of Cystinosis

Cystinosis
Recruiting
NCT00369421PrincipalInvestigator

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Arterial Calcification Due to Deficiency of CD73
Recruiting
NCT00094393PrincipalInvestigator

Clinical Studies of Progeria

Progeria
Completed
NCT00195637Phase 1PrincipalInvestigator

Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy

Hereditary Inclusion Body Myopathy
Completed
NCT00506259Phase 1PrincipalInvestigator

Treatment Strategies for Children With Smith-Magenis Syndrome

Chromosome DeletionDevelopmental Delay DisordersMental Retardation+2 more
Completed
NCT00889174PrincipalInvestigator

The Nosology and Etiology of Leukodystrophies of Unknown Causes

LeukodystrophyLeukoencephalopathy
Completed
NCT01642056Phase 1/2PrincipalInvestigator

EPI-743 for Metabolism or Mitochondrial Disorders

Mitochondrial DiseaseMyopathyNeurology
Completed
NCT02281760Phase 2PrincipalInvestigator

Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease

BRAF V600E Mutation
Completed
NCT06664814Phase 2PrincipalInvestigator

An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Podocyte Diseases

Focal Segmental GlomerulosclerosisMembranous NephropathyMinimal Change Disease
Recruiting

All 12 trials loaded