Transporter defects; a study of novel mechanisms of thyroid hormone resistance with dramatic consequences.

Transporter defects; a study of novel mechanisms of thyroid hormone resistance with dramatic consequences. - TOP-R Study (Thyroid hormone Origin of Pyschomotor Retardation Study)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON30085

Enrollment

1000

Registered

2006-08-29

Start date

2006-09-01

Completion date

Unknown

Last updated

2024-06-18

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

Conditions

Psychomotor retardation

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Unexplained psychomotor retardation.

Exclusion criteria

Exclusion criteria: Overt thyroid disease. Interference with thyroid metabolism.

Design outcomes

Primary

Measure	Time frame
1. Levels of serum thyroid hormone; if abnormal: 2. Possible mutations in thyroid hormone related candidate genes 3. Functional consequences of these mutations.	—

Secondary

Measure	Time frame
Linkage analysis to identify mutated gene.	—

Countries

Netherlands

Outcome results