Fabry and Gaucher studies are small, long and biomarker-heavy: eGFR slope or spleen volume as the efficacy signal, lyso-Gb3 and anti-drug antibodies alongside, and an infusion log for every dose. Capture holds all of it with one audit trail. Build in the free sandbox, no credit card, and pay only at go-live.
Free sandbox · No credit card · 21 CFR Part 11 aligned
| Assessment | Screen | Baseline | Mo 3 | Mo 6 | Mo 12 | Mo 24 |
|---|---|---|---|---|---|---|
| Infusion log (every 2 weeks) | ||||||
| Serum creatinine and eGFR | ||||||
| Plasma lyso-Gb3 | ||||||
| Anti-drug antibodies | ||||||
| Cardiac assessment | ||||||
| Pain and GI symptom diary | D | D | D | D | D |
x = visit form, D = participant diary entries
What a lysosomal storage disorder trial needs from its EDC
The study data
Lysosomal storage disorders are inherited enzyme deficiencies, and trials treat them with enzyme replacement therapy, substrate reduction, chaperones or gene therapy. Fabry disease affects kidneys, heart and nerves. Published Fabry programmes lean on renal function: the BALANCE study compared pegunigalsidase alfa with agalsidase beta using non-inferiority on the 24-month annualised eGFR slope, with plasma lyso-Gb3 as a secondary biomarker, and switch studies have reported annualised eGFR slope and lyso-Gb3 before and after changing therapy. Cardiac measures such as left ventricular mass index, pain scores and gastrointestinal symptom scales commonly appear as further endpoints.
Gaucher disease concentrates in the spleen, liver, blood and bone. The eliglustat ENGAGE study used the percentage change in spleen volume over nine months as its primary endpoint, with haemoglobin, platelets and liver volume as secondary measures; ENCORE, a switch study, used a 12-month stability composite requiring haemoglobin, platelets, spleen volume and liver volume to stay within set limits of baseline. These are measured from blood tests and MRI, so the eCRF holds the results and the imaging itself lives with the imaging reader or vendor; Capture does not store DICOM images.
Why does this need an EDC rather than a spreadsheet? Because the primary analysis is a regression through a handful of values per person over two years, and a mistyped creatinine or a wrong unit shifts the slope. Capture's unit-aware lab forms, eGFR calculation (CKD-EPI 2021) shown read-only, field-level audit trail and range checks protect those values. Reference ranges split by sex and age can be built into the lab form; see lab data and reference range management and the lab unit converter.
Many LSD trials enrol people already on enzyme therapy. The baseline then needs prior product, dose, duration and any prior antibodies, followed by a washout or direct switch, and often an open-label extension. Build each period as an epoch with its own forms, so the pre-switch history is not overwritten when the on-study data arrives.
Renal
Serum creatinine
CREATeGFR (CKD-EPI 2021)
EGFRDerived from creatinine, age and sex
71 CalculatedUrine protein / creatinine ratio
UPCRBiomarkers and immunogenicity
Plasma lyso-Gb3
LYSOGB3Reference range applied by sex
Anti-drug antibodies
ADAProtocol to build
| Protocol element | What the data looks like | Where it lives in Capture |
|---|---|---|
| Renal function (Fabry) | Creatinine, eGFR, proteinuria at fixed visits | Lab form with calculated eGFR; eGFR calculator |
| Disease biomarker | Plasma or urine lyso-Gb3, Gb3 | Lab form with sex-specific ranges |
| Organ volumes (Gaucher) | Spleen and liver volume, MRI-derived, multiples of normal | Imaging results form; imaging files stay with the reader |
| Haematology | Haemoglobin, platelet count | Laboratory form |
| Infusion record | Date, dose, rate, premedication, reaction | Repeating infusion table per dose |
| Immunogenicity | Anti-drug antibody status and titre per timepoint | Lab form with status and titre fields |
| Cardiac and neurological | Echo or MRI results, ECG, pain scores | Physical exam and cardiac result forms; BPI template as a layout |
| Natural history control | Untreated or historical cohort | Natural history study software |
Endpoints and thresholds vary by product and regulator. The table shows how data fit, not which endpoint to choose.
Build the lab and infusion forms in the free sandbox and run practice participants through 24 months of visits. No credit card.
Infusions and immunogenicity
Enzyme therapy is given by infusion every one to four weeks, often for life, and a study may span hundreds of infusions per participant, some at home. A table section on an infusion form holds one row per infusion: date, start and stop time, volume, rate, premedication, whether the infusion was interrupted, and a link to any infusion-related reaction. Calculated fields can derive infusion duration from start and stop times. Each row has its own audit trail. For home infusion arrangements see home health visits in clinical trials.
Infusion-related reactions are a standard safety endpoint. In the BRIGHT phase 3 switch study reactions clustered in a minority of participants and occurred during or shortly after infusion, and in several studies none of those without antibodies at screening developed new treatment-induced antibodies. Build an adverse event form with reaction timing relative to infusion start, severity, action taken and outcome, and link it to the infusion row. Serious reactions route through the SAE workflow.
Immunogenicity needs a rigorous dataset: screening status, titre where reported, neutralising activity if the assay provides it, and the date each sample was drawn. Capture holds results as entered or as supplied by the laboratory; there is no built-in laboratory data import, so plan transcription or an agreed exchange file. Blinding of antibody results from site staff can be handled with blinded roles in the Full Platform plan.
Build sequence
Upload the protocol to draft visits and forms for review. Nothing is saved without a person.
Screening, treatment, washout or switch, and extension as separate epochs.
Units, sex- and age-specific ranges, eGFR calculation, infusion table.
Pain, gastrointestinal and fatigue diaries completed from a secure phone link.
eConsent with email one-time code and countersignature; paediatric assent where children are enrolled.
Run a practice participant through 24 months, then approve and lock the forms.
Rare-disease reality
Fabry and Gaucher trials often enrol dozens, not thousands, from specialist centres across several countries. Multi-site tools (QR-code enrolment, site-level numbering, a site coordinator portal and PII segregation, so coordinators see names and researchers coded IDs) keep a small network tidy, and data can be hosted in the EU (Frankfurt) or the USA (N. Virginia). The general rare-disease playbook is in EDC for rare disease clinical trials; if you are collecting the untreated course, see natural history study software.
Related haematology designs are covered in EDC for hematology trials. Capture is suitable for Phase 1, 2 and 3 studies, and extension and long-term follow-up studies run in the same system.
It calculates eGFR using CKD-EPI 2021 from entered creatinine, age and sex and shows it read-only. The slope itself is computed in your analysis on the exported data.
Yes. A table section holds one row per infusion with times, rate, premedication and reaction links, each with its own audit trail.
Lab forms can carry reference ranges split by sex and age, built from your source tables.
No. It holds the measured volumes and related results; images stay with your imaging reader or vendor.
Yes. Model each period as an epoch with its own forms, so prior-therapy history is preserved.
Yes, through the infusion table entered by site staff, or by participants through a diary task if your protocol allows self-reporting.
Free sandbox with every feature, no credit card; you pay at go-live. See the pricing page.
Keep exploring
Free sandbox with every feature. No credit card, and you pay only when you go live.