A within subject dose escalation study of a vitamin supplement for PKA

Phase 2

• Conditions: Hallervorden-Spatz; PKAN; 10022958; 10028037

• Registration Number: NL-OMON55013
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 11 June 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 10

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

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.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Main study parameter/endpoint:<br /><br><br /><br>1) 4*-PPT will be measured in the collected blood samples (collected at 10 time<br /><br>points, according to Table 1).<br /><br>2) COASY biomarker mRNA expression levels measured in lymphocytes extracted<br /><br>from blood at 10 time points during the study.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary study parameters/endpoints:<br /><br><br /><br>1) Safety outcome measures will include study product-emergent adverse events<br /><br>and abnormalities on routine laboratory tests collected at 10 time points over<br /><br>2 years of the study.<br /><br><br /><br>2) In addition, at 6 time points during the study video recordings will be<br /><br>performed to objectively measure the neurological examination.<br /><br><br /><br>3) Tolerability outcomes will be assessed via participant retention in the<br /><br>study and adherence to the study product regimen.</p><br>