Clinical Research

This is a partial list of Clinical Research studies that target Phelan-Mcdermid Syndrome. If you are interested in participating in a particular study, the contact information is provided.

Click the link below to view and download a tool to help you make an informed decision about Phelan-McDermid Syndrome research study participation.  Contact the study coordinator directly with questions about the study.

Stanford University

Developmental Synaptopathies Consortium: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (DSC)

Stanford, CA, United States

Status: Recruiting

Contact:
Julia Buckingham
650-725-0439
juliab1@stanford.edu

Rush University Medical Center

Developmental Synaptopathies Consortium: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (DSC)

Chicago, IL, United States

Status: Recruiting 

Contact:
Madison Printen
312-563-3352
Madison_T_Printen@rush.edu

Boston Children’s Hospital

Developmental Synaptopathies Consortium: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (DSC)

Boston, MA, United States

Status: Recruiting 

Contact:
Meghan Dean
617-919-3499
meghan.dean@childrens.harvard.edu

National Institute of Mental Health

Developmental Synaptopathies Consortium: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (DSC)

Bethesda, MD, United States

Status: Recruiting 

Contact:
Maggie Pekar
301-402-1084
pakarm@mail.nih.gov

Seaver Center at Icahn School of Medicine at Mount Sinai

Developmental Synaptopathies Consortium: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (DSC)

New York City, NY, United States

Status: Recruiting 

Contact:
Allison Durkin
212-241-2993
allison.durkin@mssm.edu

University of Texas Southwestern

Developmental Synaptopathies Consortium: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (DSC)

Dallas, TX, United States

Status: Recruiting 

Contact:
Mark Bushong
214-648-4147
mark.bushong@Utsouthwestern.edu

University of Texas Southwestern

Biomarkers Associated with Phelan-McDermid (22q13 Deletion) Syndrome.

Dallas, TX, United States

Status: Recruiting

Contact:
Mark Bushong
214-648-4147
mark.bushong@Utsouthwestern.edu

Texas Children’s Hospital

Phenotypic Characterization of Humans with SHANK3 Mutations

Houston, TX, United States

Status: Recruiting

Contact:
Truzella Benton
832-822-0996

 

Institut Pasteur

The genetic and phenotypic diversity of patients with PMS in Europe

Paris, France

Status: Ongoing

Contact:
Richard Delorme
richard.delorme@rdb.aphp.fr

University of Utah

Atypical Late Brain Development in Autism

Salt Lake City, Utah

Status: Ongoing

Contact:
Milo White
801-585-9061

PMSF | Phelan-McDermid Syndrome Foundation