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

NCT04182763 | Completed Results DMC

• 2 other identifiers: IRB00018782R01HD097328
• Study Type: interventional
• Target: 77
• Locations: 1 country
• Sites: 1

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.

Conditions

Pantothenate Kinase-Associated Neurodegeneration

Keywords

Neurodegeneration with Brain Iron Accumulation; NBIA; PKAN

Outcome Measures

Primary Outcomes (5)

• 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.

  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.

  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.

  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.

  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.

  6-month randomized, double-blind, placebo-controlled phase

Secondary Outcomes (1)

• CoASY mRNA Expression

  Up to 6 months after first dose

Study Arms (5)

CoA-Z dose 1

EXPERIMENTAL

6 months of CoA-Z at the highest assigned dose followed by 18 months of CoA-Z at dose 2

Other: CoA-Z

CoA-Z dose 2

EXPERIMENTAL

6 months of CoA-Z at the medium assigned dose followed by 18 months of CoA-Z at dose 2

Other: CoA-Z

CoA-Z dose 3

EXPERIMENTAL

6 months of CoA-Z at the lowest assigned dose followed by 18 months of CoA-Z at dose 2

Other: CoA-Z

Placebo

PLACEBO COMPARATOR

6 months of placebo, followed by 18 months of CoA-Z at dose 2 (medium dose)

Other: CoA-Z; Other: Placebo

Open-label arm

EXPERIMENTAL

Up to 24 months of CoA-Z at dose 2

Other: CoA-Z

Interventions

CoA-Z OTHER

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.

CoA-Z dose 1; CoA-Z dose 2; CoA-Z dose 3; Open-label arm; Placebo

Placebo OTHER

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

Placebo

Eligibility Criteria

• Age: 3 Months - 89 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Oregon Health and Science University: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Washington State University: collaborator
• Oregon State University: collaborator
• Spoonbill Foundation: collaborator
• Spoonbill: collaborator

Study Sites (1)

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Related Links

• Trial information website

MeSH Terms

Conditions

Pantothenate Kinase-Associated Neurodegeneration

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neuroaxonal Dystrophies; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Limitations and Caveats

December 2019, approximately 4 months before the onset of COVID-19 shutdowns. We therefore operated almost entirely during the pandemic, which led to certain challenges. We had to shorten the open-label period for 10 participants due to study product shortage. Additionally, some data presented here are from the 6-month, double-blind, placebo-controlled section of the study, the most important time period.

Results Point of Contact

• Title: Allison Gregory, MS CGC, Project Manager
• Organization: Oregon Health & Science University

gregorya@ohsu.edu

503-494-4344

Study Officials

• Penelope Hogarth, M.D.

  Oregon Health and Science University

  PRINCIPAL INVESTIGATOR

• Susan J Hayflick, MD

  Oregon Health and Science University

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: Masking was used for the initial 6-month randomized, double-blind phase, placebo-controlled.
• Purpose: OTHER
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Model Details: An initial 6-month, dose-ranging, parallel-group, randomized, double-blind, placebo-controlled phase is followed by an 18-month, single-dose, open-label phase--these arms met enrollment goals. A direct-to-open-label arm of the study was opened to allow for additional enrollment.

Study Record Dates

• First Submitted: November 24, 2019
• First Posted: December 2, 2019
• Study Start: December 4, 2019
• Primary Completion: September 1, 2024
• Study Completion: January 1, 2025
• Last Updated: October 29, 2025
• Results First Posted: October 29, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share
• Time Frame: Data will not be available until after September, 2024

Locations

US (1)