Hallervorden-Spatz PKAN
Conditions
Interventions
All patients will be given 4*-PPT. Patients will be assigned a daily dose of 4*-
PPT, which will be provided in the form of capsules. The content will be
dissolved in water and the desired amount wil
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: 1. Have a diagnosis of PKAN confirmed by genetic testing showing two pathogenic mutations, OR one found mutation and typical clinical and imaging features of the disease. 2. aged >12 months at the time of screening. 3. Be able to take the study product by mouth or via gastrostomy tube. 4. Informed consent is provided by the patient and/or parents, and/or legal representative. 5. Be resident in The Netherlands or Belgium for the duration of the trial. 6. Have a valid Dutch or Belgian health insurance.
Exclusion criteria
Exclusion criteria: 1. subjects must NOT have been exposed to a putative PANK2 *bypass* therapeutic agent in the 30 days prior to screening. 2. subjects must NOT be concurrently enrolled in another interventional clinical trial. 3. subjects must NOT have concurrent medical or other conditions that in the opinion of the investigators are expected to preclude completion of study procedures or confound the assessment of clinical and laboratory measures of safety. 4. subjects must be able to understand Dutch.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main study parameter/endpoint: 1) 4*-PPT will be measured in the collected blood samples (collected at 10 time points, according to Table 1). 2) COASY biomarker mRNA expression levels measured in lymphocytes extracted from blood at 10 time points during the study. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study parameters/endpoints: 1) Safety outcome measures will include study product-emergent adverse events and abnormalities on routine laboratory tests collected at 10 time points over 2 years of the study. 2) In addition, at 6 time points during the study video recordings will be performed to objectively measure the neurological examination. 3) Tolerability outcomes will be assessed via participant retention in the study and adherence to the study product regimen. | — |
Countries
Netherlands
Outcome results
None listed