Efficacy, Safety, and Tolerability of Fosmetpantotenate in patients with Pantothenate Kinase-associated Neurodegeneration (PKAN)

Phase 1

• Conditions: Pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive genetic disorder, the most common form of Neurodegeneration with Brain Iron Accumulation (NBIA). It is a progressive, often fatal, neurodegenerative disease.; MedDRA version: 20.0Level: PTClassification code 10053643Term: Neurodegenerative disorderSystem Organ Class: 10029205 - Nervous system disorders; Therapeutic area: Diseases [C] - Nervous System Diseases [C10]

• Registration Number: EUCTR2016-001955-29-FR
• Lead Sponsor: Retrophin, Inc.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2018-06-04
• Study Completion: 2019-12-30
• Last Update Posted: 9 September 2024

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 84

Inclusion Criteria

- The patient has a diagnosis of PKAN as indicated by confirmed mutations in the pantothenate kinase 2 (PANK2) gene.
- The patient has a score of = 6 on the Pantothenate Kinase-associated Neurodegeneration Activities of Daily Living (PKAN-ADL) scale.
Are the trial subjects under 18? yes
Number of subjects for this age range: 41
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 41
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

- The patient has required regular or intermittent invasive ventilatory support to maintain vital signs within 24 weeks prior to randomization.
- The patient has had a deep brain stimulation (DBS) device implanted within 6 months prior to screening.
- The patient is unable or unwilling to remain on their pre-study dose(s) of allowed concomitant PKAN maintenance medications and therapies for the double-blind period of the study.
- The patient has taken deferiprone within 30 days prior to screening.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: The efficacy objective of this study is to evaluate the efficacy of fosmetpantotenate over 24 weeks in patients with PKAN.<br>The safety objective of the study is to assess the safety and tolerability of fosmetpantotenate in patients with PKAN.;Secondary Objective: To determine the PK following multiple doses of fosmetpantotenate in patients with PKAN.<br>To explore potential biomarkers of disease, along with their potential response to treatment in patients with PKAN.;Primary end point(s): Primary Efficacy Endpoint<br>- Change in the score from the PKAN-ADL<br><br>Safety Endpoint<br>- Safety and tolerability ;Timepoint(s) of evaluation of this end point: For each patient, the change from Baseline in PKAN-ADL scores at Weeks 3, 6, 12, 18, and 24 of the double-blind period will be used for analysis.

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): Secondary Efficacy Endpoint<br>- Change in the score from Part III of the UPDRS;Timepoint(s) of evaluation of this end point: Continuous measures recorded at each study visit from Baseline to the end of the 24-week double-blind period.