Pantothenate kinase-associated neurodegeneration (PKAN) Nervous System Diseases
Conditions
Interventions
Study product: UK-PKAN-B5D (capsule containing 4'-phosphopantetheine [4'-PPT]) or matched placebo). To be dosed enterally once per day.
Participants will take UK-PKAN-B5D by mouth or feeding tube dai
Sponsors
Great Ormond Street Hospital for Children NHS Foundation Trust
Eligibility
Sex/Gender
All
Age
12 Months to 25 Years
Inclusion criteria
Inclusion criteria: 1. Confirmed PKAN diagnosis: bi-allelic pathogenic PANK2 mutations OR a single pathogenic PANK2 mutation and typical findings on history, exam and brain MRI: 1.1. Classic PKAN: motor symptom onset under 5 years of age (if recruited at under 10 years of age) OR loss of independent ambulation by age 10 years (if 10 years or over at recruitment) OR 1.2. Atypical PKAN: all other PKAN patients who do not meet the criteria for classic PKAN 2. Older than 12 months of age and under 25 years of age at the time of screening 3. Able to take study product by mouth or enterally by nasogastric/gastrostomy tube 4. Able and willing to travel for, and complete study procedures 5. Be already enrolled or willing to enrol in the ‘PKAN-ready’ natural history study (eIRB10832) 6. Female participants of childbearing potential (who have begun menstruation) must have a negative pregnancy test result at the Screening Visit. In addition, if applicable, females of childbearing potential must use a highly effective method of contraception according to local requirements (see below) 7. UK resident for study duration
Exclusion criteria
Exclusion criteria: 1. Exposed to another PANK2 ‘bypass’ agent less than 4 months prior to screening. These would include any agent aiming to bypass the loss of PANK2 enzyme activity 2. Enrolled in another interventional clinical study or received another Investigational Medicinal Product in the 4 months prior to screening 3. Deep brain stimulation implantation planned within 6 months from study enrolment 4. Have co-existing medical conditions that preclude completion of study procedures or confound assessment of clinical/laboratory safety measures 5. Pregnant or breastfeeding 6. Known galactosaemia or severe hypersensitivity to lactose
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The long-term safety and tolerability profile of 4'-PPT measured using: 1. Incidence of adverse events and serious adverse events during the 24-week placebo-controlled phase, comparing active and placebo groups 2. Incidence of adverse events and serious adverse events over the full 48-week period, including standard laboratory tests | — |
Secondary
| Measure | Time frame |
|---|---|
| The safety of 4'-PPT measured using PKAN disease-specific scales over the 24-week placebo-controlled phase of active and control groups: 1. PKAN Activities of Daily Living (PKAN-ADL) 2. PKAN Disease Rating Scale (PKAN-DRS) | — |
Countries
England, United Kingdom
Contacts
Public ContactManju Kurian
Outcome results
None listed