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

Not Applicable

• Conditions: Pantothenate Kinase-Associated Neurodegeneration
• Interventions: Other: CoA-Z; Other: Placebo

• 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

Study Timeline

• Study First Submitted: 2019-11-24
• Study First Submitted QC: 2019-11-29
• Study First Posted: 2019-12-02
• Study Start: 2019-12-04
• Status Verified: 2022-01
• Last Update Submitted: 2022-01-25
• Last Update Posted: 2022-02-09
• Primary Completion: 2024-01
• Study Completion: 2024-01

Recruitment & Eligibility

• Status: UNKNOWN
• 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: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
CoA-Z dose 1	CoA-Z	6 months of CoA-Z at the highest assigned dose followed by 18 months of CoA-Z at dose 2
Placebo	Placebo	6 months of placebo, followed by 18 months of CoA-Z at dose 2 (medium dose)
Placebo	CoA-Z	6 months of placebo, followed by 18 months of CoA-Z at dose 2 (medium dose)
CoA-Z dose 2	CoA-Z	6 months of CoA-Z at the medium assigned dose followed by 18 months of CoA-Z at dose 2
CoA-Z dose 3	CoA-Z	6 months of CoA-Z at the lowest assigned dose followed by 18 months of CoA-Z at dose 2
Open-label arm	CoA-Z	Up to 24 months of CoA-Z at dose 2

Primary Outcome Measures

Name	Time	Method
Percentage of participants experiencing clinically significant laboratory abnormalities on Comprehensive Metabolic Profile.	24 months	Safety will be assessed by measuring the percentage of participants experiencing clinically significant laboratory abnormalities on Comprehensive Metabolic Profile by collection month. Clinical significance will be determined by Medical Safety Monitor and Clinical Investigators.
Percentage of participants experiencing clinically significant laboratory abnormalities on Complete Blood Count.	24 months	Safety will be assessed by measuring the percentage of participants experiencing clinically significant laboratory abnormalities on Complete Blood Count by collection month. Clinical significance will be determined by Medical Safety Monitor and Clinical Investigators.
Number of participants experiencing clinically significant laboratory abnormalities on Comprehensive Metabolic Profile.	24 months	Safety will be assessed by measuring the number of participants experiencing 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 experiencing adverse events assessed by CTCAE v4.0	24 months	Safety will be measured by measuring the number of participants experiencing adverse events by study period and treatment arm
Percentage of participants experiencing adverse events assessed by CTCAE v4.0	24 months	Safety will be measured by measuring the percentage of participants experiencing adverse events by study period and treatment arm
Number of participants experiencing clinically significant laboratory abnormalities on Complete Blood Count.	24 months	Safety will be assessed by measuring the number of participants experiencing clinically significant laboratory abnormalities on Complete Blood Count by collection month. Clinical significance will be determined by Medical Safety Monitor and Clinical Investigators.
Number of participants retained in each arm.	24 months	Tolerability will be assessed by measuring the number of participants retained in each arm at each follow up time point.
Mean percent of study product consumed.	24 months	Tolerability will be assessed by adherence to the study product regimen arm at each follow-up time point.

Secondary Outcome Measures

Name	Time	Method
Ratio of CoASY mRNA expression level to that of 18s, an internal control	24 months	The pharmacodynamic profile of a putative disease biomarker will be assessed by measuring the mean level of CoASY gene expression by treatment arm across study timepoints.

Trial Locations

Locations (1)

Oregon Health & Science University; 🇺🇸 Portland, Oregon, United States