PKAN phase-II

Completed

Conditions: Pantothenate Kinase-Associated Neurodegeneration (PKAN)

Registration Number: NL-OMON24533

Lead Sponsor: Department of Biomed. Sciences of Cells & Systems. Section: Molecular Cell Biology. University Medical Center Groningen This is an investigator-initiated study

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 10

Inclusion Criteria

1. Have a diagnosis of PKAN confirmed by genetic testing showing two pathogenic mutations, OR one confirmed 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 oral route 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. Be in the possession of a Dutch or Belgium health insurance.

Exclusion Criteria

For inclusion in this trial,
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 who do NOT understand Dutch.

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
1)to obtain in vivo pharmacokinetic data of 4’-PPT (the study product) measured in plasma of PKAN patients; <br>2)to obtain pharmacodynamic data of the biomarker COASY in circulating lymphocytes of PKAN patients, when 4’-PPT is provided daily at 3 subsequent increasing doses (7,5 mg/m2, 15 mg/m2 and 30 mg/m2) for a month each and when 4’-PPT has been orally provided over a period of 19 months on a fixed dose, based on the biomarker measurements obtained from the dose-escalation phase.

Secondary Outcome Measures

Name	Time	Method
1)To assess safety and tolerability of the used doses of 4’-PPT in PKAN patients when 4’-PPT is orally provided;<br>2)Objective neurological examination (video) .