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

Oregon Health and Science University77 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

RANDOMIZED

Purpose

OTHER

Masking

QUADRUPLE

Enrollment

Conditions

Pantothenate Kinase-Associated Neurodegeneration

Interventions

CoA-ZOTHER

People with PKAN lack a chemical to process or metabolize a certain vitamin in the brain. CoA-Z is designed to bypass this metabolic defect that causes PKAN.

PlaceboOTHER

The placebo is a strawberry-flavored syrup that looks and tastes like CoA-Z but has no active CoA-Z in it.

Eligibility

Sex: ALLMin age: 3 MonthsMax age: 89 Years

Medical Language ↔ Plain English

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.

Locations (1)

Oregon Health & Science University

Portland, Oregon, United States

Outcomes

Primary Outcomes

Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0

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.

Time frame: 6 months following first dose in double-blind phase

Number of Treatment-emergent Clinically Significant Laboratory Abnormalities on Complete Blood Count.

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.

Time frame: 6-month randomized, double-blind, placebo-controlled phase

Number of Treatment-emergent Clinically Significant Laboratory Abnormalities on Comprehensive Metabolic Profile.

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.

Time frame: 6-month randomized, double-blind, placebo-controlled phase

Number of Participants Retained in Each Arm.

Tolerability will be assessed by measuring the number of participants retained in each arm over the course of the study.

Time frame: 6 month randomized, double-blind, placebo-controlled period

Mean Percent of Study Product Consumed.

Tolerability will be assessed by adherence to the study product regimen arm at each follow-up time point.

Time frame: 6-month randomized, double-blind, placebo-controlled phase

Secondary Outcomes

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.