INZ701-006 - chart review ENPP1 & ABCC6 deficiency v2.0
Research type
Research Study
Full title
A Retrospective, Longitudinal Natural History Study of Subjects with ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
IRAS ID
304244
Contact name
Mohamed Zulf Mughal
Contact email
Sponsor organisation
Inozyme Pharma
Duration of Study in the UK
15 years, 10 months, 27 days
Research summary
Ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) Deficiency is an ultra-rare disorder that causes hypopyrophosphatemia (low circulating levels of inorganic pyrophosphate [PPi]) and hypoadenosinemia which, in turn, leads to ectopic (especially arterial) calcification (described in literature as Generalized Arterial Calcification of Infancy [GACI] type 1), skeletal abnormalities including rickets/ osteomalacia (described in literature as Autosomal Recessive Hypophosphatemic Rickets type 2 [ARHR2]), and osteoporosis, as well as occlusive neo-intimal proliferation. Similar to ENPP1 Deficiency, ABCC6 Deficiency is a disorder of pathological mineralisation. A rare acute early-onset form resembles the acute infantile form of ENPP1 Deficiency and has thus been called GACI type 2 (GACI-2). There are no approved or proven treatments for ENPP1 Deficiency or ABCC6 Deficiency.
The primary objective of this study is to characterise the natural progression of ENPP1 Deficiency and early-onset form of ABCC6 Deficiency. Data extraction will occur for each patient from existing data sources e.g. medical charts, hospital records, personal records, laboratory results, radiographic images, biopsy specimens and genetics reports. The radiographs will be used to create a disease specific Radiographic Global Impression of Change (RGI-C) score. This information along with the prospective data from another active Inozyme trial will be used to identify the key ages of the different disease manifestations and progression to be used as benchmark data to compare against any future therapy development for these diseases. While patients’ retrospective data will be collected up to the date of their original ICF for this study, additional data beyond their original ICF collection date may be warranted. Patients will be asked in the original ICF if they are willing to be contacted by the Investigator in the future (which may occur up to 3 times over a 15 year period) for the purpose of obtaining an updated written consent to access additional records.
REC name
West Midlands - Black Country Research Ethics Committee
REC reference
21/WM/0238
Date of REC Opinion
1 Nov 2021
REC opinion
Further Information Favourable Opinion