GNAO1 Natural History Study

NCT04950946 | Unknown

• 1 other identifier: 201901128
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the GNAO1 Natural History Study is to establish the clinical phenotype of GNAO1 associated neurologic disease, its association with genotype, and areas of clinical importance within the disease.

Conditions

GNAO1

Keywords

Natural History Study; pediatric; neurology; movement disorder; epilepsy; GNAO1

Outcome Measures

Primary Outcomes (6)

• Chorea

  The Abnormal Involuntary Movement Scale (AIMS) assesses the severity of dyskinesias, as well as the overall severity, incapacitation, and the subject's level of awareness of the movements, and distress associated with them.

  March 2019; May-Oct 2020

• Dystonia

  The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) assesses the severity of dystonia in nine body regions. The scale takes into account the severity and frequency of the dystonic movements.

  March 2019; May-Oct 2020

• Gross motor development, mobility

  The Gross Motor Function Measure (GMFM-88) is a standardized observational instrument designed and validated to measure changes in gross motor function over time in children with cerebral palsy.

  March 2019; May-Oct 2020

• Spasticity

  The Modified Ashworth Scale (MAS) is a muscle tone assessment scale used to assess the resistance experienced during passive range of motion. The MAS is the current standard for clinical assessment of extremity spasticity.

  March 2019

• Fine motor development

  The Peabody Developmental Motor Scales 2nd Edition (PDMS-2) is an early childhood motor development program that provides both in-depth assessment and training or remediation of gross and fine motor skills. The assessment is composed of six subtests that measure interrelated motor abilities that develop early in life. We are mainly interested in two subtests: Grasping and Visual-Motor Integration.

  March 2019

• Quality of Life and Caregiver Burden

  The Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire attempts to understand and quantitate the quality of life of patients and caregiver burden.

  March 2019; May-Oct 2020

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Minors and adults who have a confirmed pathogenic mutation in GNAO1 or a variant of unknown significance and clinical symptoms likely to be consistent with GNAO1 (e.g. global developmental delay, movement disorder, seizures) as determined by study physicians.

You may qualify if:

• Enrollment in the Bow Foundation GNAO1 registry.
• Evidence of a known pathogenic mutation in GNAO1 or a variant of unknown significance and clinical symptoms likely to be consistent with GNAO1 as determined by study physicians.

You may not qualify if:

• Inability to obtain informed consent from parents or adult subjects.
• Inability to obtain medical records.

Sponsors & Collaborators

• Washington University School of Medicine: lead
• The Bow Foundation: collaborator

Study Sites (1)

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location

Related Publications (4)

• Ananth AL, Robichaux-Viehoever A, Kim YM, Hanson-Kahn A, Cox R, Enns GM, Strober J, Willing M, Schlaggar BL, Wu YW, Bernstein JA. Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. Pediatr Neurol. 2016 Jun;59:81-4. doi: 10.1016/j.pediatrneurol.2016.02.018. Epub 2016 Mar 17.

  PMID: 27068059 BACKGROUND

• Feng H, Sjogren B, Karaj B, Shaw V, Gezer A, Neubig RR. Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. Neurology. 2017 Aug 22;89(8):762-770. doi: 10.1212/WNL.0000000000004262. Epub 2017 Jul 26.

  PMID: 28747448 BACKGROUND

• Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13.

  PMID: 25966631 BACKGROUND

• Narayanan UG, Fehlings D, Weir S, Knights S, Kiran S, Campbell K. Initial development and validation of the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD). Dev Med Child Neurol. 2006 Oct;48(10):804-12. doi: 10.1017/S0012162206001745.

  PMID: 16978459 BACKGROUND

Related Links

• The Bow Foundation website

MeSH Terms

Conditions

Movement Disorders; Epilepsy

Condition Hierarchy (Ancestors)

Central Nervous System Diseases; Nervous System Diseases; Brain Diseases

Study Officials

• Amy Viehoever, MD, Ph.D.

  Washington University School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 25, 2021
• First Posted: July 6, 2021
• Study Start: February 18, 2019
• Primary Completion: December 1, 2022
• Study Completion: December 1, 2022
• Last Updated: July 6, 2021

Record last verified: 2021-06

Locations

US (1)