Creatine Deficiency, X-linkedVigilanNCT02931682
Observational Study of Males With Creatine Transporter Deficiency
An observational study of Creatine Deficiency, X-linked, run by Ultragenyx Pharmaceutical Inc at 10 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 months to 65 years, men only
- Conditions the study is for
- Creatine Deficiency, X-linked
- How many people
- 50 participants
- Where
- 10 sitesin 2 countries
- Study dates
- Dec 2016to 24 Oct 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 65 years
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Community Sample
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
10 sites in 2 countries.
10 sites in 2 countries
United States9 sites
National Institutes of Health Clinical Center
Bethesda, Maryland, 20814
Boston Children's Hospital
Boston, Massachusetts, 02115
Rush University Medical Center
Chicago, Illinois, 60612
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Duke University Medical Center
Durham, North Carolina, 27710
Texas Children's Hospital
Houston, Texas, 77030
University of California San Diego
La Jolla, California, 92037
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
University of Utah
Salt Lake City, Utah, 84108
About this study
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.
Read the 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.
- Conditions
- Creatine Deficiency, X-linked
- Keywords
- Creatine transporter, developmental delay, intellectual disability, X-linked, language, seizure, observational, brain spectroscopy
- Medical subject headings
- Creatine deficiency, X-linked, Learning Disabilities, Intellectual Disability, Language, Seizures
What is being measured
The primary outcome is the main question the study is designed to answer.
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
Measured: Month 48
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Oct 2016 (estimated)
- Study startDec 2016
- Primary completion24 Oct 2022
- Study completion24 Oct 2022
Why it stopped: Sponsor decision not related to safety concerns
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Creatine Deficiency, X-linkedStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Ultragenyx Pharmaceutical Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02931682
- Sponsor's protocol ID
- LUM-001-C-01
- Other IDs
- UX068-CL001
- Acronym
- Vigilan
- Status last verified
- Nov 2022
- First submitted
- 5 Oct 2016
- Last updated
- 14 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 41260060Campbell 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.
PubMed 36721240
Study at a glance
From the registry record, last updated by the sponsor on 14 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Study of Males With Creatine Transporter Deficiency
- ClinicalTrials.gov ID
- NCT02931682
- Acronym / sponsor ID
- Vigilan / LUM-001-C-01
- Conditions
- Creatine Deficiency, X-linked
- Keywords
- Creatine transporter, developmental delay, intellectual disability, X-linked, language, seizure, observational, brain spectroscopy
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Sponsor decision not related to safety concerns
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- Dec 2016 (actual)
- Primary completion
- 24 Oct 2022 (actual)
- Study completion
- 24 Oct 2022 (actual)
- First posted
- 13 Oct 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 months to 65 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Community Sample
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
Time frame: Month 48
Results and safety
The study was stopped early (reason given: Sponsor decision not related to safety concerns). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Nov 2022.
- Derived from this study: PubMed 41260060Miller 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.
- Derived from this study: PubMed 36721240Campbell 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director study director
Ultragenyx Pharmaceutical Inc
10 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Creatine Deficiency, X-linked, run by Ultragenyx Pharmaceutical Inc at 10 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 14 Nov 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Sponsor decision not related to safety concerns). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4) (time frame: Month 48). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02931682, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Nov 2022.