HNRNPH2-Related Disorder Clinical Trials

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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Status: Recruiting
Location: See all (2) locations...
Study Type: Observational
SUMMARY

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https://www.simonssearchlight.org/research/what-we-study/

• Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.

• Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.

• Able and willing to provide consent.

Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Pennsylvania
Geisinger Health System
RECRUITING
Lewisburg
Contact Information
Primary
Simons Searchlight Study Coordinator
coordinator@SimonsSearchlight.org
855-329-5638
Time Frame
Start Date: 2010-10
Estimated Completion Date: 2050-10
Participants
Target number of participants: 100000
Treatments
Copy Number Variants
Individuals with documented pathogenic or likely pathogenic copy number variants related to neurodevelopmental disorders.
Gene Variants
Individuals with documented pathogenic or likely pathogenic variants in a gene related to neurodevelopmental disorders.
Authors
W. Andrew Faucett
Related Therapeutic Areas
Autism Spectrum Disorder
Cri-Du-Chat Syndrome
Hereditary Sensory and Autonomic Neuropathy Type 2
Walker-Warburg Syndrome
Lissencephaly 2
Anhidrosis
Cramp-Fasciculation Syndrome
X-Linked Retinal Dysplasia
Cat Eye Syndrome
Focal or Multifocal Malformations in Neuronal Migration
Fukuyama Type Muscular Dystrophy
Hereditary Sensory Neuropathy Type 1 (HSN1)
Lissencephaly
HNRNPH2-Related Disorder
Cortical Dysplasia
Hajdu-Cheney Syndrome
Sponsors
Collaborators: Geisinger Clinic, Simons Foundation, Boston Children's Hospital
Leads: Simons Searchlight

This content was sourced from clinicaltrials.gov

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