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: 21.1 Level: PT Classification code 10053643 Term: Neurodegenerative disorder System Organ Class: 10029205 - Nervous system disorders
Conditions
Interventions
Product Name: Fosmetpantotenate
Product Code: RE-024
Pharmaceutical Form: Powder for oral suspension
INN or Proposed INN: Fosmetpantotenate
CAS Number: 1858268-66-2
Current Sponsor code: RE-024
Other
Sponsors
Retrophin, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - The patient has a diagnosis of PKAN as indicated by confirmed mutations in the pantothenate kinase 2 (PANK2) gene (if available, the specific mutation will be recorded). - 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
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 (including DBS settings) for the double-blind period of the study. - The patient has taken deferiprone within 30 days prior to screening.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The efficacy objective of this study is to evaluate the efficacy of fosmetpantotenate over 24 weeks in patients with PKAN. 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. To explore potential biomarkers of disease, along with their potential response to treatment in patients with PKAN.;Primary end point(s): Primary Efficacy Endpoint - Change in the score from the PKAN-ADL, from Baseline to the end of the 24-week double-blind period Safety Endpoint - Safety and tolerability of fosmetpantotenate;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
| Measure | Time frame |
|---|---|
| Secondary end point(s): Secondary Efficacy Endpoint - Change in the score from Part III of the Unified Parkinson’s Disease Rating Scale (UPDRS) from Baseline to the end of the 24-week double-blind period;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. | — |
Countries
Canada, Czech Republic, France, Germany, Italy, Norway, Poland, Spain, United Kingdom, United States
Contacts
Public ContactClinical Trial Information Desk
Retrophin Inc.
Outcome results
None listed