Creatine transporter defect in females.

Creatine transporter defect in females. - CRTR defect in females.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON31374

Enrollment

Registered

2007-07-23

Start date

2007-06-15

Completion date

Unknown

Last updated

2024-05-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

creatine transporter defect

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: proven carrier of pathogenic mutation in creatine transporter gene.

Exclusion criteria

Exclusion criteria: no informed consent.

Design outcomes

Primary

Measure	Time frame
The investigations will consist of 1.medical and family history, 2.physical examination, 3. laboratory analysis which will included biochemical analysis of urine and blood, X-inactivation studies in blood, hairs and saliva, RNA analysis of the creatine transporter gene and creatine uptake studies in fibroblasts and EBV-transformed lymphocytes, 4.1H-MRS of brain and 5. a neuropsychologic evaluation.	—

Measure

Time frame

The investigations will consist of 1.medical and family history, 2.physical examination, 3. laboratory analysis which will included biochemical analysis of urine and blood, X-inactivation studies in blood, hairs and saliva, RNA analysis of the creatine transporter gene and creatine uptake studies in fibroblasts and EBV-transformed lymphocytes, 4.1H-MRS of brain and 5. a neuropsychologic evaluation.

—

Secondary

Measure	Time frame
not appicable	—

Countries

Netherlands

Outcome results