Observational Study of Males With Creatine Transporter De... | NCT02931682

Studies
Observational Study of Males With Creatine Transporter Deficiency

NCT02931682

Sponsor

Ultragenyx Pharmaceutical Inc

Status

Terminated

Last Update Posted

Nov 14, 2022Actual

Enrollment

50Actual

Phase

Not provided

Conditions

Creatine Deficiency, X-linked

Interventions

Not provided

Countries

United States
Canada

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
UX068-CL001	Other Identifier	Ultragenyx Pharmaceutical Inc

Status Module

Record Verification Date

Nov 2022

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Sponsor decision not related to safety concerns

Expanded Access Info

Start Date

Dec 2016Actual

Primary Completion Date

Oct 24, 2022Actual

Completion Date

Oct 24, 2022Actual

First Submitted Date

Oct 5, 2016

First Submission Date that Met QC Criteria

Oct 11, 2016

First Posted Date

Oct 13, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 7, 2022

Last Update Posted Date

Nov 14, 2022Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of performance-based and other measures in the CTD population.

Detailed Description

This is an observational study designed to determine an appropriate clinical assessment battery for males with CTD, and to evaluate Magnetic resonance spectroscopy (MRS) along with other potential biomarkers. It is designed to explore developmental domains of interest and to examine the feasibility and utility of various neuropsychological assessments to measure domains of interest, and to identify possible endpoints for interventional studies. Study will also explore genotype-phenotype correlations.

Clinical adverse events will be monitored throughout the study.

This study was previously posted by Lumos Pharma, which has been transferred to Ultragenyx in June 2019.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

50Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)		Month 48

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
Subject is able to complete study-related procedures.
Subjects' parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the subject will provide an assent.

Exclusion Criteria:

Subject has had status epilepticus within 3 months of screening.
Subject is unable to comply with the study procedures or with a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

6 Months

Maximum Age

65 Years

Standard Ages

ChildAdultOlder Adult

Study Population

Community Sample

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Medical Director	Ultragenyx Pharmaceutical Inc	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of California San Diego		La Jolla	California	92037	United States
Rush University Medical Center

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
41260060	Derived	Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A. Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. Pediatr Neurol. 2026 Feb;175:8-18. doi: 10.1016/j.pediatrneurol.2025.10.023. Epub 2025 Oct 30.
36721240

ID	Term
C535598	Creatine deficiency, X-linked
D007859	Learning Disabilities
D008607	Intellectual Disability
D007802	Language
D012640	Seizures

ID	Term
D003147	Communication Disorders
D019954	Neurobehavioral Manifestations
D009461	Neurologic Manifestations
D009422	Nervous System Diseases