The functional consequences of the 57 kb deletion for the TRPV1-receptor in cystinosis patients

The functional consequences of the 57 kb deletion for the TRPV1-receptor in cystinosis patients - Functioning of TRPV1 in cystinosis patients

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON39916

Enrollment

Registered

2013-05-14

Start date

2014-01-09

Completion date

Unknown

Last updated

2024-04-29

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

Conditions

Fanconi syndrome kidney disease

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - White (Caucasian) male or female subjects, aged >8 year. -Subject is capable and willing to give informed consent.

Exclusion criteria

Exclusion criteria: - Any abnormality of the skin which may interfere with the study assessments. - Excessive hair growth on the volar surface of the forearm. - Excessive tanning (any exposure to sunlight or a tanning bed which would cause a sunburn reaction) throughout the study and incapable to cover the forearms for 24 hours prior to the study period. - Subject using topical treatments on the forearm. - History of sensitivity to the fruits of capsicum plants (e.g. chilli peppers). - Any situation that can compromise the study, including a predictable lack of cooperation from the volunteer. - Female subject is pregnant or breastfeeding

Design outcomes

Primary

Measure	Time frame
1. Change in dermal blood flow in respons to topical applied capsaicin over time. 2. Difference in skin sensitivity (pain- and sensitivitythreshold) after application of capsaicin between cystinosis patients,homozygous and heterozygous for the 57-kb deletion, and controls. 3. Difference in temperature sensitivity between cystinosis patients,homozygous and heterozygous for the 57-kb deletion, and controls.	—

Measure

Time frame

1. Change in dermal blood flow in respons to topical applied capsaicin over time. 2. Difference in skin sensitivity (pain- and sensitivitythreshold) after application of capsaicin between cystinosis patients,homozygous and heterozygous for the 57-kb deletion, and controls. 3. Difference in temperature sensitivity between cystinosis patients,homozygous and heterozygous for the 57-kb deletion, and controls.

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Countries

Netherlands

Outcome results