NCT02931682

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.

Trial Health

60
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Dec 2016

Longer than P75 for all trials

Geographic Reach
2 countries

10 active sites

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 5, 2016

Completed
8 days until next milestone

First Posted

Study publicly available on registry

October 13, 2016

Completed
2 months until next milestone

Study Start

First participant enrolled

December 1, 2016

Completed
5.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 24, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 24, 2022

Completed
Last Updated

November 14, 2022

Status Verified

November 1, 2022

Enrollment Period

5.9 years

First QC Date

October 5, 2016

Last Update Submit

November 7, 2022

Conditions

Creatine Deficiency, X-linked

Keywords

Creatine transporterdevelopmental delayintellectual disabilityX-linkedlanguageseizureobservationalbrain spectroscopy

Outcome Measures

Primary Outcomes (1)

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

    Month 48

Eligibility Criteria

Age6 Months - 65 Years
Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Community Sample

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (10)

University of California San Diego

La Jolla, California, 92037, United States

Location

Rush University Medical Center

Chicago, Illinois, 60612, United States

Location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20814, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Texas Children's Hospital

Houston, Texas, 77030, United States

Location

University of Utah

Salt Lake City, Utah, 84108, United States

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

Related Publications (2)

  • 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. 2025 Oct 30;175:8-18. doi: 10.1016/j.pediatrneurol.2025.10.023. Online ahead of print.

    PMID: 41260060DERIVED

  • Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD. Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1. Biomark Res. 2023 Jan 31;11(1):14. doi: 10.1186/s40364-023-00448-x.

    PMID: 36721240DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, cerebrospinal fluid, urine and fibroblasts

MeSH Terms

Conditions

Creatine deficiency, X-linkedLearning DisabilitiesIntellectual DisabilityLanguageSeizures

Condition Hierarchy (Ancestors)

Communication DisordersNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and SymptomsNeurodevelopmental DisordersMental DisordersCommunicationBehavior

Study Officials

  • Medical Director

    Ultragenyx Pharmaceutical Inc

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 5, 2016

First Posted

October 13, 2016

Study Start

December 1, 2016

Primary Completion

October 24, 2022

Study Completion

October 24, 2022

Last Updated

November 14, 2022

Record last verified: 2022-11

Data Sharing

IPD Sharing
Will not share

Locations

US(9)CA(1)