SUN-759 Real-World Outcomes in Late Adolescence Among Individuals With X-linked Hypophosphatemia (XLH): Results From the XLH Disease Monitoring Program
Notice bibliographique
Résumé
Abstract Disclosure: A.A. Khan: Ascendis, Takeda, Amolyt, Bridge Bio, Alexion Pharmaceuticals, Inc. E.A. Imel: Kyowa Kirin, Ultragenyx. L.M. Ward: Kyowa Kirin, Ultragenyx. T.O. Carpenter: Kyowa Kirin, Ultragenyx. J. Simmons: Kyowa Kirin, Ultragenyx. P.F. Florenzano: Kyowa Kirin, Ultragenyx. J. Li: Kyowa Kirin. S. Tewari: KMK Consulting Inc. S. Sader: Ultragenyx. M. Vincent: Kyowa Kirin. H. Cassinelli: Kyowa Kirin, Ultragenyx. Introduction: Changes in dosing schedules/treating physicians and other life events may affect disease management in persons with X-linked hypophosphatemia (XLH) in late adolescence. To understand the impact of this phase of life on disease progression and management, we describe the longitudinal outcomes of adolescent participants (pts) who reconsented as young adults to the XLH Disease Monitoring Program (DMP; NCT03651505), a multi-country observational study. Methods: The analysis included adolescents treated with burosumab who enrolled in the DMP age <18 years and reconsented as adults. Outcome measures were collected per the DMP visit schedule. Rickets Severity Score (RSS), Rickets Radiographic Global Impression of Change (RGI-C), biochemical and anthropometric z-scores (serum phosphate, serum alkaline phosphatase [ALP], height, weight), Tanner staging, and Patient-Reported Outcomes Measurement Information System (PROMIS) scores were collected pre-reconsent; Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) scores were gathered post-reconsent. Results: Forty-seven pts were included. Mean ± standard deviation (SD) age was 15.5 ± 1.5 years (yrs) at DMP enrollment (baseline [BL]), mean ± SD time to reconsent following enrollment was 3.5 ± 1.1 yrs, and mean ± SD burosumab treatment duration was 3.3 ± 1.1 yrs. At latest visit pre-reconsent, mean ± SD RSS decreased from BL (0.34 ± 0.55 to 0.14 ± 0.35), and Rickets RGI-C change from BL was +1.67 ± 0.93. Mean ± SD weight, height, and height z-scores were 72.3 ± 19.5 kg, 162.3 ± 10.3 cm, and −1.69 ± 1.29 for male pts, and 62.1 ± 14.7 kg, 150.9 ± 7.9 cm, and −1.87 ± 1.23 for female pts, at latest visit pre-reconsent. Tanner stage ≥4 was exhibited in 63.8% of pts at latest visit pre-reconsent. At the latest visit pre-reconsent, mean ± SD serum phosphate was 3.02 ± 0.51 mg/dL (z-score: −1.62 ± 0.74), compared to a BL of 3.08 ± 0.75 mg/dL (z-score: −1.58 ± 0.99). Mean ± SD serum ALP was 151.43 ± 94.48 U/L (z-score: −0.09 ± 1.40), compared to a BL of 236.11 ± 126.60 U/L (z-score: 1.19 ± 1.52). PROMIS outcomes (mobility, pain interference, fatigue) were stable from BL to pre-reconsent. At latest visit post-reconsent, mean ± SD WOMAC scores were pain: 9.7 ± 13.8; stiffness: 13.04 ± 20.1; and physical function: 4.49 ± 7.95. XLH provider change was reported in 9 pts (n=4) post-reconsent. To date, 17/47 (36.2%) pts have switched to the adult monthly dosing schedule post-reconsent. Conclusion: Biochemical parameters and patient-reported outcomes were generally stable for older adolescents treated with burosumab, suggesting that consistent disease management, as anticipated in the DMP, was in place at a time when many persons may otherwise be lost to follow-up. As the DMP evolves, further analyses will be performed to incorporate additional pts and longer follow-up times to enhance the understanding of outcomes during late adolescence. Presentation: Sunday, July 13, 2025
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,002 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,001 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,001 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,001 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».