Young XLH Patients-Reported Experience with a Supportive Care Program

Anya Rothenbuhler,1 Iva Gueorguieva,2 Lydia Lichtenberger-Geslin,3 Christelle Audrain,1 Sylvie Soskin,4 Candace Bensignor,5 Sylvie Rossignol,4 Aurélia Bertholet-Thomas,6 Lorelei Naudeau,7 Justine Bacchetta,6 Agnès Linglart1,8 1AP-HP, INSERM, Endocrinology and Diabetes for Children, Physiologie et Physiopathologie Endocriniennes, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Filière OSCAR, and Platform of Expertise for Rare Disorders, ERN for Rare Endocrine Disorders and ERN BOND, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France; 2Pediatric Endocrine Unit Children’s Hospital Jeanne de Flandre, Lille University Hospital, Lille, France; 3Pediatric Department, Abbeville Hospital, Abbeville, France; 4Pediatric Department, Strasbourg University Hospital, Strasbourg, France; 5Departement of Endocrino-Pediatry, Dijon University Hospital, Dijon, France; 6Pediatric Nephrology, Rheumatology, and Dermatology Unit, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, Reference Center for Rare Renal Diseases, Filières Maladies Rares OSCAR ORKiD and ERK-Net, INSERM 1033, Hôpital Femme Mère Enfant, Faculté de Médecine Lyon Est, Bron, France; 7Patientys-Webhelp Medica, Boulogne-Billancourt, France; 8Paris Saclay University, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, FranceCorrespondence: Lorelei Naudeau, Email lorelei.naudeau@gmail.comPurpose: X-linked hypophosphatemia (XLH) is a rare, chronic, genetic condition characterized by renal phosphate wasting and abnormal bone and teeth mineralization. It represents a challenging and multifaceted disease that causes wide-ranging impacts on patients’ lives. In this context, a scientific committee has designed a support initiative for patients treated for XLH: the aXess program. We sought to determine if a patient support program (PSP) could help XLH patients cope with their condition.Methods: During the 12 months of participation in the aXess program, XLH patients were contacted by phone by a nurse to coordinate their treatment, ensure treatment adherence, and provide motivational interviews. A Pediatric QOL inventory was conducted on all participants at enrollment (D0), at month 6, and month 12.Results: Altogether, a total of 59 patients were enrolled in the program. Most patients reported an improvement in QOL in all examined dimensions by month 12 (physical, emotional, social, and school, 85.4 ± 0.2 at month 12 versus 75.6 ± 0.3 at enrollment, p< 0.05). Patients were very satisfied with the program, with a mean overall satisfaction score of 9.8 ± 0.6 (on a scale from 0 to 10) at month 6 and 9.2 ± 1.5 at month 12.Conclusion: Our findings indicate that this program might improve the QOL for patients with chronic conditions such as XLH through patient education, therapy adherence, motivational interviews, and frequent follow-up. It links the home environment and overall illness management, bringing patients, families, and caregivers together.Keywords: XLH, patient support program, aXess support program, nurses, hypophosphatemia, quality of life, children