ForbesDennisonPorterMD

Medical Genetics • Bethesda, MD

Clinical Genetics

Physician

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Office
10 Center Dr
10-Crc, Room 5-2571
Bethesda, MD 20892
Phone+1 301-435-4432

Education & Training

Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1989 - 1992
Washington University in St. Louis School of MedicineClass of 1989

Certifications & Licensure

MD State Medical License 1993 - 2025
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Clinical Trials

Study of Smith-Lemli-Opitz Syndrome Start of enrollment: 1998 Sep 13
COMPLETED
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Start of enrollment: 2002 Oct 09
RECRUITING
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Start of enrollment: 2003 Jul 01
Completed
Phase 2
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Start of enrollment: 2006 Aug 14
RECRUITING
Streptococcal Infection and Respiratory Distress in Newborns Start of enrollment: 2008 Feb 04
Completed
Cholesterol in ASD: Characterization and Treatment Start of enrollment: 2009 Jul 28
Completed
Phase 1, Phase 2
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Start of enrollment: 2009 Aug 01
Completed
Phase 1, Phase 2
Exome Sequencing in Autistic Spectrum Disorder Start of enrollment: 2010 Jan 21
Completed
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Start of enrollment: 2011 Jan 01
Terminated
Not Applicable
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols Start of enrollment: 2011 Jun 16
Completed
A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Start of enrollment: 2011 Jun 29
Withdrawn
Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease Start of enrollment: 2013 Jan 01
Completed
Phase 1
Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Start of enrollment: 2014 Apr 25
Completed
Phase 1, Phase 2
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C Start of enrollment: 2022 Nov 28
RECRUITING
Roles: Principal Investigator, Contact
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Publications & Presentations

PubMed

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.
Niamh X Cawley, Ruyu Zhou, Nicole M Farhat, James Iben, Derek M Alexander
Journal of Inherited Metabolic Disease. 2025-03-01
Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.
Avani V Mylvara, Cristin D Davidson, Derek Alexander, Charles P Venditti, Forbes D Porter
Human Gene Therapy. 2025-02-27
Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D Porter
American Journal of Medical Genetics. Part A. 2025-02-01

Press Mentions

Item of Interest: NICHD Researchers Collaborate with Basic Scientists to Understand Rare, Fatal Childhood Neurological DisorderSeptember 28th, 2022
New Drug for Niemann-Pick Disease Type C1 Appears Safe, EffectiveAugust 11th, 2017

ForbesDennisonPorterMD

Dr. Porter is on Doximity

Education & Training

Certifications & Licensure

Clinical Trials

Publications & Presentations

Press Mentions

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