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Steven Pratt, Stuart Richer, Clifton Blake Perry, Grant Ruteledge, Carla Podella; Early Biomarkers of AMD (EBAMD) Study - Design and Baseline Data: IRB-11-5677. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6189. doi: https://doi.org/.
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Children of AMD patients have a 45% lifetime risk of developing AMD. EBAMD is a prospective exploratory study evaluating baseline genetic risk against a battery of epigenetic serum, nutritional & sub-clinical biomarkers in children of AMD patients.
Informed consent,staggered recruitment registry of (to date) n=50 (35F/15M) children of AMD patients. Inclusion: 1) Age 40+; 2) mother and/or father w AMD; 3) no visible AREDS AMD pathology or confounding ocular / systemic disease. Systemic : in-vivo skin carotenoids, BMI / waist circumference & hand strength dynamometry. Genetics: Buccal swab categorized for total risk & lifetime risk using a 5 genotype CFH, C3, ARMS2 & MT-ND2 8 SNP DNA array, www.njlabs.com & serum MTHFR (methylenetetrahydrofate reductase) C677T & A1298C folate mutations / hcyst metab. Epigenetics : 1) HS-n-3 Index array; 2) lipid & apolipoprotein particle size, LP(a) & hs-CRP; 3) cell micronutrient deficiency (B complex, AAs, metabolites, fatty acids, vitamins, minerals, CHO metab, antiox index; cell prolif- immunidex index), www.Spectracell .com; 4) serum carotenoids & inflamm marker panels (IL-1a, IL-1B, IL-6, MCP-1,TNFa) www.pbrc.edu; 5) Food Frequency Intake ,www.hsph.harvard.edu & 6) structure / function SD-OCT retinal thickness / 1 deg macula pigment (QuantifEye) & function (MDD2 glare recov (secs), Stereo Optical CSF (AUC) & yellow VF scotoma (count).
Subjects are 63.3 SD 8.8 yrs, 25.6 BMI, high skin carotenoids 42,860 / 50,000 & hand grip strength R 82.6 SD 46 lb; L 75.5 SD 46.5 lb. Mean AMD pop genetic risk category = 2.15 SD 0.92 with total mean lifetime risk of 15.6 % SD 13. MTHFR genotypes present in n=24 (16 HTZ/ 8 HOM) (C677T mutation) and n=21 (17 HTZ / 4 HOM) (A1298c mutation). Of 70 serum factors, the whole population had 2 abnormalities: ↑ Total sat fat & chol. (Pop abn mean (SD) & ref range: ↑ Sat fat @ 43.4 SD 1.6 mg% (36.4 - 42.0 ref range); ↑ Total Chol @ 201.2 SD 33 (<200 NCEP guidelines); none- the- less, the data revealed a variety of individual baseline abnormalities awaiting correlation with genetics / structure & visual function.
Minimal baseline abnormalities are consistent with this well educated, well nourished, active and affluent population. By identifying early individual AMD biomarkers in children & instituting lifestyle changes/ nutrient repletion, EBAMD aims to reduce the case-by-case clinical onset of AMD.
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