The effect of phenylalanine supplementation on metabolic control in Tyrosinemia Type 1 patients.

The effect of phenylalanine supplementation on metabolic control in Tyrosinemia Type 1 patients. - Phenylalanine supplementation in Tyrosinemia type 1

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON43703

Enrollment

Registered

2016-12-08

Start date

2017-02-18

Completion date

Unknown

Last updated

2024-04-23

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

Conditions

Hereditary Tyrosinemia Type 1 Metabolic Disease

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Diagnosed with Hereditary Tyrosinemia type 1 Treated with NTBC Adequate dietary control (tyrosine concentrations: 200-600 µmol/L)

Exclusion criteria

Exclusion criteria: Tyrosinemia type 1 patients with intercurrent infections Tyrosinemia type 1 patients who received liver transplantation

Design outcomes

Primary

Measure	Time frame
The primary study parameters are phenylalanine and tyrosine concentrations. Their day to day variation (at specific time points) and variation throughout the day will be analysed. Next to this, mean phenylalanine and tyrosine concentrations with and without supplementation of phenylalanine will be analysed.	—

Secondary

Measure	Time frame
The secondary outcome parameters are NTBC and succinylacetone concentrations. If doses of NTBC are high enough, it is hypothesized that the tyrosine degradation pathway is completely blocked. Thus, the metabolic product succinylacetone will not be formed. However, in regular patientcare increased succinylacetone concentrations are sometimes found. Thus, the question is whether NTBC concentrations are high enough during the complete day. Therefore, the variation of NTBC and the occurence of increased succinylacetone concentrations will be analysed.	—

Measure

Time frame

The secondary outcome parameters are NTBC and succinylacetone concentrations. If doses of NTBC are high enough, it is hypothesized that the tyrosine degradation pathway is completely blocked. Thus, the metabolic product succinylacetone will not be formed. However, in regular patientcare increased succinylacetone concentrations are sometimes found. Thus, the question is whether NTBC concentrations are high enough during the complete day. Therefore, the variation of NTBC and the occurence of increased succinylacetone concentrations will be analysed.

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Countries

Netherlands

Outcome results