FollowME Fabry Pathfinders Registry: Renal Effectiveness in a Cohort of Patients on Migalastat Treatment for at Least Three Years
Bibliographic record
Abstract
Background: The followME Fabry Pathfinders registry (EUPAS20599) is evaluating real-world safety, effectiveness and patient-reported outcomes for patients with Fabry disease who were enrolled into one of three groups: migalastat-amenable GLA variants receiving migalastat, any GLA variant receiving enzyme replacement therapy and migalastat-amenable GLA variants not receiving Fabry disease-specific therapy (untreated). Methods: We present effectiveness data across categories of kidney function at enrollment in a cohort of patients who had received ≥3 years of migalastat treatment. Enrolled patients were ≥12 years old with an estimated glomerular filtration rate (eGFR) >30 mL/min/1.73 m2. Results: As of August 2022, 125 patients (60.0% males; median age, 58.0 years) with amenable GLA variants had a mean migalastat exposure of 3.9 years. At enrollment, mean±SD eGFR was 83.7 ± 22.5 mL/min/1.73 m2, and overall, 17 (14.7%) patients had an eGFR <60 mL/min/1.73 m2. Median urine albumin: creatinine ratio was 19.0 mg/g (range 0-1124, n=40). Mean (SD) eGFR annualized rate of change (mL/min/1.73 m2/year) in the overall cohort was -0.9 (4.9). When analyzed by eGFR category at enrollment annualized change was -1.0 (3.9) in patients with eGFR ≥90 (33.6%), -1.0 (5.9) in patients with eGFR ≥60-90 (43.2%), and -0.4 (3.5) in patients with eGFR ≥30-60 (12.8%). Overall, 94.4% of patients did not experience a renal Fabry-associated clinical event (FACE: doubling of serum creatinine level from the start of analysis [two consecutive values]; end-stage renal disease requiring long term dialysis or transplantation). Seven patients each experienced one renal FACE for an incidence of 14.2/1000 patient-years. When excluding patients with the mostly cardiac variant p.N215S (69.6%, n=87) mean eGFR rate of change was -1.4 (4.6) mL/min/1.73 m2/year, n=81) and renal FACEs incidence was 20.9/1000 patient-years. Conclusions: These data support sustained effectiveness with migalastat, regardless of kidney function at enrollment, in an amenable real-world cohort of patients with Fabry disease. Funding: Commercial Support - Amicus Therapeutics
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.005 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".