Hereditary Cystatin C Amyloid Angiopathy (HCCAA)
Conditions
Interventions
Trade Name: N-ACETYL CYSTEINE 600 MG
Product Name: N-ACETYL CYSTEINE
Product Code: N8-1090/1659572
Pharmaceutical Form: Capsule
Sponsors
Arctic Therapeutics ehf
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Inclusion Criteria 1 Patient is male or female, ages 18 or older, of Icelandic ancestry known to carry the HCCAA mutation L68Q. 2 Patient is judged to be in sufficient medical health to be able to participate in the study. 3 Patient has HCCAA confirmed by mutation status detection of L68Q 4 Patient has been genotyped/sequenced and confirmed to carry the L68Q mutation in the cystatin C gene 5 Patient is willing to have a baseline and follow up skin biopsy every 3 months for up to 9 months. 6 Patient has provided informed consent for participation in trial Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 50 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: Exclusion Criteria 1. Patient does not have L68Q mutation 2. Patient has clinically significant illness, mental or physical, that, in the opinion of the investigator, might confound the results of the study, pose additional risk to the patient by their participation, or prevent/impede the patient from completing the study. 3. Patient is pregnant or attempting to become pregnant 4. Patient tests positive for illicit drugs (including marijuana) or has history of drug abuse within the last 2 years. 5. Patient consumes excessive amounts of alcoholic beverages. 6. There is any concern by the investigator regarding the patient’s safety, compliance, or suitability with respect to his/her participation in the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: • Evaluate safety and tolerability of AT-1 administered orally in adults (ages 18 and over) with HCCAA with or without dementia symptoms • Assess dose-response relationship of AT-1 on HCCAA disease progression, including • Biomarker response from skin biopsies (reduction in cystatin C stain) • Assessment of cognitive status using dementia rating scales ; Secondary Objective: • Characterize pharmacokinetic parameters of AT-1 when administered orally to adults (ages 18 and over) with HCCAA (n=5) • Assess influence of AT-1 on serum glutathione levels • Assess influence of AT-1 on cystatin C/amyloid dimer formation • Assess excretion of cystatin C in urine and impact of AT-1 treatment ; Primary end point(s): Primary Endpoint: • Assessing the biological efficacy, safety and tolerability at AT-1 based on assessment of the stained skin biopsies, AEs and other safety measurements including vital signs, ECG, labs. • The change in skin deposition (reduction in cystatin C/amyloid protein complex stain) following 3, 6, and 9 months treatment with study drug. • The change in cognitive status using dementia rating scales following 3, 6 and 9 months treatment with study drug ;Timepoint(s) of evaluation of this end point: At month 3, 6, and 9 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Secondary Endpoint: • Establish pharmacokinetics of AT-1 in a subset of 5 subjects. • GSSG/GSH ratio in blood • Cystatin C/amyloid dimer formation • hCC levels in urine ;Timepoint(s) of evaluation of this end point: 3, 6 and 9 months | — |
Countries
Iceland
Contacts
Public ContactHead, Clinical Development
Arctic Therapeutics ehf.
Outcome results
None listed