Metabolic evaluation of nutrition in Rett syndrome: creatine metabolism.

Metabolic evaluation of nutrition in Rett syndrome: creatine metabolism. - Metabolic evaluation of nutrition in Rett syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON34479

Enrollment

Registered

2010-08-12

Start date

2010-09-06

Completion date

Unknown

Last updated

2024-05-06

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

Conditions

Rett syndrome

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Clinical diagnosis of Rett syndroom according to the diagnostic criteria (Hagberg et al, 2002) MECP2-mutation Complete neurophysiological work-up Participant preliminary research (NL25356.068.08)

Exclusion criteria

Exclusion criteria: Male gender

Design outcomes

Primary

Measure	Time frame
Blood as well as urine samples will be collected to confirm previous findings (plasma and urine creatine concentrations) and perform mutation analysis regarding the SLC6A8 gene. Secondary, a skin biopsy will be collected for functionality investigations regarding creatine transporter.	—

Secondary

Measure	Time frame
Not applicable.	—

Countries

Netherlands

Outcome results