A Phase II Study of a Novel Vitamin Metabolite for PKAN
Research type
Research Study
Full title
A Phase II Study of a Novel Vitamin Metabolite for Pantothenate Kinase Associated Neurodegeneration (PKAN)
IRAS ID
1003863
Contact name
Manju Kurian
Contact email
Sponsor organisation
Great Ormond Street Hospital for Children NHS Foundation Trust
Research summary
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare but devastating fatal condition that affects the brain. Children are born normally but progressively lose the ability to walk or talk and develop painful twisting movements called dystonia. Children with PKAN cannot convert vitamin B5 into an essential molecule called co-enzyme A. \nThere are currently no treatments that change the course of this progressive disease, leading to major disability and high risk of death in childhood. This study will trial a new vitamin-metabolite designed to correct the metabolic problem causing the disease by giving a partially processed form of vitamin B5 called 4’-phosphopantetheine (called UK-PKAN-B5D). This study product is low risk with no evidence of toxicity from animal or other human studies.\nWe will evaluate the safety and tolerability of UK-PKAN-B5D in 24 young people aged between 1 and 25 years. Participants will take UK-PKAN-B5D by mouth or feeding tube daily for a 24-week randomized, double-blind, placebo-controlled phase followed immediately by a 24-week open-label phase. Safety measures will include monitoring of all adverse events, regular safety blood tests, and use of PKAN-specific activities of daily living and disease rating scales. Exploratory outcomes will assess the pharmacodynamic profile of biomarker expression in peripheral blood, ophthalmology testing to monitor PKAN eye disease, and quality of life and dystonia rating scales.\nThe study will be sponsored by and conducted at Great Ormond Street Hospital for Children, with study visits coinciding with routine clinical reviews wherever possible. Funding is fully from Great Ormond Street Children’s Charity and LifeArc charity.\nThe aim of our study is to ensure that this medicine is safe and well tolerated by participants, with no significant side-effects. In the longer term, we plan to develop this as a food for special medical purpose for dietary management of patients with PKAN.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
24/SC/0179
Date of REC Opinion
24 Jun 2024
REC opinion
Further Information Favourable Opinion