Clinical trial NCT04182763: CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
Official title: A Phase 2 Study of a Vitamin Metabolite for PKAN
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Pantothenate Kinase-Associated Neurodegeneration
Keywords: Neurodegeneration with Brain Iron Accumulation
NBIA
PKAN
Lead sponsor: Oregon Health and Science University
Sponsor class: OTHER
Collaborators: name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
name: Washington State University
name: Oregon State University
name: Spoonbill Foundation
First posted: 2019-12-02
Enrollment: 77
Sex: ALL
Minimum age (years): 3
Maximum age (years): 89
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: SINGLE_GROUP
Intervention model description: 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.
Primary purpose: OTHER

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Number of participants experiencing adverse events assessed by CTCAE v4.0
timeFrame: 24 months
measure: Percentage of participants experiencing adverse events assessed by CTCAE v4.0
timeFrame: 24 months
measure: Percentage of participants experiencing clinically significant laboratory abnormalities on Complete Blood Count.
timeFrame: 24 months
measure: Number of participants experiencing clinically significant laboratory abnormalities on Complete Blood Count.
timeFrame: 24 months
measure: Percentage of participants experiencing clinically significant laboratory abnormalities on Comprehensive Metabolic Profile.
timeFrame: 24 months
measure: Number of participants experiencing clinically significant laboratory abnormalities on Comprehensive Metabolic Profile.
timeFrame: 24 months
measure: Number of participants retained in each arm.
timeFrame: 24 months
measure: Mean percent of study product consumed.
timeFrame: 24 months
Secondary outcomes:
measure: Ratio of CoASY mRNA expression level to that of 18s, an internal control
timeFrame: 24 months
Other outcomes:
Locations:
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
Study officials:
affiliation: Oregon Health and Science University
name: Penelope Hogarth, M.D.
role: PRINCIPAL_INVESTIGATOR
References: