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Bohring-Opitz Syndrome and ASXL Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03303716
Recruitment Status : Recruiting
First Posted : October 6, 2017
Last Update Posted : October 25, 2018
Dr. Wen-Hann Tan at Boston Children's Hospital
Bohring-Opitz Syndrome Foundation
Information provided by (Responsible Party):
Bianca Russell, Children's Hospital Medical Center, Cincinnati

Brief Summary:
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome(ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).

Condition or disease
Bohring-Opitz Syndrome ASXL1 Gene Mutation Shashi-Pena Syndrome ASXL2 Gene Mutation Bainbridge-Ropers Syndrome ASXL3 Gene Mutation

Detailed Description:
Study participants will be asked to complete a series of brief surveys over time about their medical condition. The researchers will also attain primary medical records.The registry is run by clinical geneticists at Cincinnati Children's and Boston Children's Hospitals in a partnership with the Bohring-Opitz Syndrome (BOS) Foundation. The BOS Foundation is a non-profit organization run by families of patients with BOS that is focused on supporting research. The data is co-managed by the researchers and the Foundation. Aggregate data from the Registry will be shared with the participants as well as used for publication. The Registry is HIPPA compliant and follows all the IRB requirements regarding securing and managing patient data.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 20 Years
Official Title: Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry
Actual Study Start Date : September 20, 2017
Estimated Primary Completion Date : September 2037
Estimated Study Completion Date : September 2037

Primary Outcome Measures :
  1. Natural history, treatment and management strategies of ASXL gene disorders [ Time Frame: 20 years ]
    Use participant surveys including the GRDR CDE standard questions to collect data on disease history and management. Attain primary medical records with goal of publications to enhance treatment, management and understanding of the natural history of ASXL gene disorders.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients with molecularly proven or suspected ASXL related disorders

Inclusion Criteria:

  • Clinical or molecular diagnosis of an ASXL related disorder

Exclusion Criteria:

  • No clinical or molecular diagnosis of an ASXL related disorder

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03303716

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Contact: Loren Pena, MD (513) 636-4760

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United States, Ohio
Cincinnati Children's Hospital Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Loren Pena, MD    513-636-4760   
Sponsors and Collaborators
Children's Hospital Medical Center, Cincinnati
Dr. Wen-Hann Tan at Boston Children's Hospital
Bohring-Opitz Syndrome Foundation
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Principal Investigator: Kathyrn Weaver, MD Children's Hospital Medical Center, Cincinnati

Additional Information:

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Responsible Party: Bianca Russell, Bianca Russell, MD, Children's Hospital Medical Center, Cincinnati Identifier: NCT03303716     History of Changes
Other Study ID Numbers: CIN_ASXLRegistry_001
First Posted: October 6, 2017    Key Record Dates
Last Update Posted: October 25, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Cleft Palate
Genetic Diseases, X-Linked
Intellectual Disability
Pathologic Processes
Jaw Abnormalities
Jaw Diseases
Musculoskeletal Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Stomatognathic Diseases
Mouth Abnormalities
Mouth Diseases
Stomatognathic System Abnormalities
Congenital Abnormalities
Craniofacial Dysostosis
Bone Diseases, Developmental
Bone Diseases
Penile Diseases
Genital Diseases, Male
Urogenital Abnormalities
Genetic Diseases, Inborn
Neurobehavioral Manifestations