A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
Palabras clave
Abstracto
Descripción
Primary Objective:
The primary objective of this study is to identify whether frataxin levels and specific RNAs and proteins in blood and buccal cells differ between patients with FRDA and controls.
Secondary Objective:
The secondary objectives of this study are:
- To understand the variability of frataxin and specific RNAs and proteins identified in buccal cells.
- To correlate levels of frataxin and specific RNAs and proteins with features of FRDA.
- To correlate levels of frataxin and specific RNAs and proteins with triglycerides, high density lipoprotein (HDL), low density lipoprotein (LDL) levels, and other lipids.
fechas
| Verificado por última vez: | 05/31/2020 |
| Primero enviado: | 02/02/2020 |
| Inscripción estimada enviada: | 02/02/2020 |
| Publicado por primera vez: | 02/04/2020 |
| Última actualización enviada: | 06/09/2020 |
| Última actualización publicada: | 06/10/2020 |
| Fecha de inicio real del estudio: | 01/13/2020 |
| Fecha estimada de finalización primaria: | 06/29/2020 |
| Fecha estimada de finalización del estudio: | 06/29/2020 |
Condición o enfermedad
Intervención / tratamiento
Diagnostic Test: Buccal Swabs and Blood Draws
Fase
Grupos de brazos
| Brazo | Intervención / tratamiento |
|---|---|
| FRDA Subjects Male and female subjects with FRDA confirmed by genetic testing (aim for a 50:50 distribution of males to females) | |
| Controlled Subjects Male and female control subjects (matched by age [+/- 2 years] and sex) |
Criterio de elegibilidad
| Edades elegibles para estudiar | 12 Years A 12 Years |
| Sexos elegibles para estudiar | All |
| Método de muestreo | Non-Probability Sample |
| Acepta voluntarios saludables | No |
| Criterios | Inclusion Criteria: 1. Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only). 2. Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects. 3. Subject (and/or parent/legal guardian) has voluntarily signed consent form. 4. Willingness and ability to comply with all study procedures. 5. Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only). Exclusion Criteria: 1. Treatment with an investigational product within 30 days of study. 2. Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day. 3. Use of any statin medications within 90 days of the specimen collection day. 4. Use of any lipid-lowering agents within 6 weeks of the specimen collection day. 5. Use of daily biotin supplementation that exceeds 30 mcg/day, either as part of a multivitamin or as a standalone supplement, within 7 days of the study visit. 6. Pregnant women. |
Salir
Medidas de resultado primarias
1. Difference in frataxin levels, specific RNAs and proteins [1 day]
Medidas de resultado secundarias
1. Variability in frataxin levels, specific RNAs and proteins [1 day]
2. Correlation of frataxin levels, specific RNAs and proteins in FRDA patients [1 day]
3. Correlation of frataxin levels, specific RNAs and proteins [1 day]
