CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)

Not Applicable

Completed

Conditions: Pantothenate Kinase-Associated Neurodegeneration

Registration Number: NCT04182763

Lead Sponsor: Oregon Health and Science University

Brief Summary: The purpose of this study is to learn more about how people with the condition pantothenate kinase-associated neurodegeneration (PKAN) respond to a specialized study product. We are hoping to find out if the study product is safe, what effects-good and bad-the study product causes, and whether the study product changes certain measures of disease in PKAN.

Detailed Description: Not available

Recruitment & Eligibility

Status: COMPLETED

Sex: All

Target Recruitment: 77

Inclusion Criteria

Has a diagnosis of PKAN confirmed by: a) genetic testing confirming 2 pathogenic or likely pathogenic mutations, or (b) typical findings on exam and brain MR imaging with only one pathogenic mutation +/- a second likely pathogenic or VOUS in PANK2, or (c) typical findings on exam and brain MR imaging with a single likely pathogenic or VOUS in PANK2, or (d) be a symptomatic sibling of a proband subject meeting a, b or c.
Be between 3 months old and 89 years old.
Be able to take study product by mouth or feeding tube.
Be willing and able to complete study procedures / telephone visits / blood draws independently, OR have a caregiver / parent willing and able to assist with these tasks.
Be enrolled or willing to enroll in the PKANready natural history study (eIRB 10832).
Be resident in North America (US or Canada) for the duration of the trial.

Exclusion Criteria

Have had exposure to a putative PANK2 bypass therapeutic agent in the 30 days prior to screening.
Be concurrently enrolled in another interventional clinical trial.
Have concurrent medical or other condition expected to preclude completion of study procedures of confound the assessment of clinical and laboratory measures of safety.

Study & Design

Study Type: INTERVENTIONAL

Study Design: CROSSOVER

Primary Outcome Measures

Name	Time	Method
Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0	6 months following first dose in double-blind phase	Safety will be measured using the number of treatment-emergent adverse events (both AE and SAE) by treatment arm. Counts are adjusted for number of prescription medications at baseline as a measure of baseline disease severity.
Number of Treatment-emergent Clinically Significant Laboratory Abnormalities on Complete Blood Count.	6-month randomized, double-blind, placebo-controlled phase	Safety will be assessed by measuring the number of treatment-emergent clinically significant laboratory abnormalities on Complete Blood Count. Clinical significance will be determined by Medical Safety Monitor and Clinical Investigators.
Number of Treatment-emergent Clinically Significant Laboratory Abnormalities on Comprehensive Metabolic Profile.	6-month randomized, double-blind, placebo-controlled phase	Safety will be assessed by measuring the number of treatment-emergent clinically significant laboratory abnormalities on Comprehensive Metabolic Profile by collection month. Clinical significance will be determined by Medical Safety Monitor and Clinical Investigators.
Number of Participants Retained in Each Arm.	6 month randomized, double-blind, placebo-controlled period	Tolerability will be assessed by measuring the number of participants retained in each arm over the course of the study.
Mean Percent of Study Product Consumed.	6-month randomized, double-blind, placebo-controlled phase	Tolerability will be assessed by adherence to the study product regimen arm at each follow-up time point.

Secondary Outcome Measures

Name	Time	Method
CoASY mRNA Expression	Up to 6 months after first dose	Average relative CoASY gene expression, measured as the ratio to baseline of 1 / (2\^\[COASY Ct - 18s Ct\]), where Ct = cycle time and 18s is a housekeeping gene. Values \>1 reflect higher expression.

Trial Locations

Locations (1): Oregon Health & Science University
🇺🇸
Portland, Oregon, United States
Oregon Health & Science University
🇺🇸Portland, Oregon, United States