Observational Study of Males With Creatine Transporter Deficiency

Conditions

Creatine Deficiency, X-linked

Keywords

Creatine transporter, developmental delay, intellectual disability, X-linked, language, seizure, observational, brain spectroscopy

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.

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.

2025-10-30

10.1016/j.pediatrneurol.2025.10.023

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.

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.

2023-01-3117 citations

10.1186/s40364-023-00448-x

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

6 Months to 65 Years

Healthy volunteers

No

Inclusion criteria

1. Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene. 2. Subject is able to complete study-related procedures. 3. 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

1. Subject has had status epilepticus within 3 months of screening. 2. 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.

Design outcomes

Primary

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

Countries

Canada, United States

Outcome results