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Back to Journals » Patient Preference and Adherence » Volume 17

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Original Research


YOUNG XLH PATIENTS-REPORTED EXPERIENCE WITH A SUPPORTIVE CARE PROGRAM

      
      
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Authors Rothenbuhler A, Gueorguieva I, Lichtenberger-Geslin L, Audrain C, Soskin
S, Bensignor C, Rossignol S , Bertholet-Thomas A, Naudeau L, Bacchetta J,
Linglart A

Received 23 September 2022

Accepted for publication 3 May 2023

Published 9 June 2023 Volume 2023:17 Pages 1393—1405

DOI https://doi.org/10.2147/PPA.S391025

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Johnny Chen

Download Article [PDF] 



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, France

Correspondence: Lorelei Naudeau, Email lorelei.naudeau@gmail.com

Purpose: 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



INTRODUCTION

X-linked hypophosphatemia (XLH) is a rare, genetic, chronic disorder caused by
inactivating mutations in the PHEX gene, resulting in elevated levels of
circulating FGF23. Increased FGF23 levels lead to hypophosphatemia and
suppressed production of active vitamin D, leading to defective bone and tooth
mineralization.1–3

The disorder manifests in childhood mainly by hypophosphatemic rickets and
dental issues. Its symptomatology is characterized by recurrent dental
abscesses, bowed legs, other skeletal deformities (such as craniosynostosis),
and short stature, resulting in reduced mobility and discomfort.4–6

Rickets and osteomalacia significantly burden children’s daily lives, including
increased pain and reduced physical activity, which may affect their emotional
state and self-esteem and increase the proportion of patients displaying
overweight and obesity.7,8 In childhood and adolescents, patients with XLH are
treated either by conventional therapy (multiple daily oral phosphate
supplementation and active vitamin D analogs) or a recently developed targeted
therapy (anti-FGF23 antibody burosumab, administrated by a nurse subcutaneously
every 14 days).

XLH patients require multidisciplinary care; thus, their management is complex,
and a coordination program is of considerable interest.

In 2016, a randomized clinical study of 766 patients treated for cancer found
that a simple intervention, such as a web-based tool that allows patients to
monitor their symptoms in real-time, triggering warnings to physicians, can have
significant benefits, including increased survival.9

In addition, a series of patient support programs have been developed, and their
beneficial effect on patients’ adherence to treatment or quality of life has
been evaluated.10–13

Patientys’ aXess program is a patient support program for patients with XLH and
their families.

The aXess program supports patients and families during periods of stress and
uncertainty. Preserving patient adherence to prescription schedules is critical
to any effective treatment regimen. The service was provided by trained and
certified nurses. Through training, nurses achieve a thorough understanding of
the XLH pathophysiology. This critical program component serves as a trusted
intermediary between patients and caregivers. In addition, trained nurses work
with patients to ensure they adhere to their prescription therapy by
coordinating injection schedules.

The overarching purpose of the aXess program is to help patients better manage
their disease and complex prescription regimens, increase treatment adherence,
and reduce anxiety to enhance their overall quality of life.

The program intends to ascertain patients’ understanding of the disease and
treatment (eg, period of dosage adaptation), encourage their autonomy, accompany
them in their daily life (eg, follow-up of biological tests), and embolden their
compliance to treatment.

The aim of our study was to evaluate how a patient support program may help
patients cope with their disease, to determine if it could be associated with
patient’s engagement and empowerment of their condition, and if it could help
patients to adhere to their treatment regimen, all of which would contribute to
an overall improvement in their daily lives and their overall quality of life.


MATERIALS AND METHODS


STUDY DESIGN

TWELVE-MONTH PATIENT SUPPORT PROGRAM

The aXess program is based on a 12-month phone follow-up of patients.

The program is coordinated by three nurses specifically trained to care for XLH
patients. These nurses oversee conducting phone calls, completing surveys,
performing motivational interviews, and coordinating all health care providers
(pharmacists, physicians, home care nurses, and medical analysis laboratories).
Importantly, coordinating nurses oversee educating home care nurses about the
disease and treatment of XLH patients.

Outbound calls from a coordinating nurse were provided at enrollment and
thereafter at regular intervals to evaluate patients’ compliance, tolerance to
the treatment and to collect their lifestyle habits through an interview. The
call schedule and frequency were tailored to meet the patient’s needs (patient
initiating targeted therapy or already on targeted treatment). A more sustained
call frequency, involving a call every two weeks following the first dose, was
required for patients starting new treatment. Patients are asked to complete
questionnaires on their daily activities and physical and emotional status.

Patients also have access to a free helpline to reach coordinating nurses. At
the patient’s request, nurses coordinate with the various actors involved in
their care: pharmacists, medical analysis laboratories, and physicians.

The program offers a treatment delivery service from the pharmacy to the
patient’s home. The program’s timeline is outlined below:

CONSULTATION WITH THE PRESCRIBING PHYSICIAN

The physician proposes the aXess program to the patient and completes the
consent form with the patient. Prescriptions for the therapy, biological tests,
and home treatment administrations are provided.

REGISTRATION VALIDATION BY THE COORDINATING NURSE

The nurse of the aXess program records the patient’s follow-up data (recent
medical appointments, previous treatment for hypophosphatemia, vitamin D
supplements), the baseline quality of life questionnaire, collects contact
information for the laboratory analysis, the pharmacy, and contacts the home
care nurse to initiate the patient’s care.

FOLLOW-UP BY THE COORDINATING NURSE

The nurse of the aXess program accompanies patients in their treatment titration
and/or follow-up to ensure the continuation of the treatment (reminder calls)
and the coordination between the various care providers. In addition, treatment
delivery can be organized if needed.

Patient satisfaction surveys are conducted over the phone.

CALLS



 * Registration validation (Day+1 after receiving consent).
 * Treatment administration reminder call (2 days before the 1st administration
   of treatment).
 * Following the 1st administration of treatment, a follow-up call is made
   (Day+2 after administration).
 * Follow-up call at month 6 and month 12 to review and coordinate their
   treatment, ensure treatment adherence, provide motivational interviews and
   assess the patient’s satisfaction and quality of life.




PATIENTS

Between July 2019 and April 2021, XLH patients were invited by their treating
physicians to participate in the aXess patient support program. Eligible
patients provided written informed consent to participate.

No patients under conventional therapy were enrolled in the program. All
children were either being treated or initiating treatment with burosumab
(targeted therapy).


EVALUATIONS

At enrolment (D0), month 6 (M6), and month 12 (M12), all 59 patients underwent a
21–23-item Pediatric quality of life inventory (PedsQL–2)14 evaluation. These
intervals were selected so that the program’s potential benefits could be
assessed both midway through and at its completion.

The PedsQL Measurement Model was created as a modular approach to measuring
pediatric health-related quality of life (HRQOL) in children and adolescents. It
encompasses four dimensions: physical, emotional, social, and school
functioning.

Specifically, the questionnaire used is the PedsQL 4.0 – Pediatric Quality of
Life Inventory Version 4.0 Generic Core Scales par J.W. Varni (2001). There are
two types of questionnaires:

 * PedsQL Child-Self Report (ages 5–7, 8–12, 13–18) completed by the
   child/adolescent;
 * PedsQL Parent-Proxy Report (2–4 years, 5–7 years, 8–12 years, 13–18 years)
   completed by the parent/guardian.



The scores are then transformed linearly to a scale between 0 and 100, summed
and divided by the number of items completed, with high scores associated with a
higher level of performance. The caregivers completed the questionnaires for
patients who were too young to fill them out themselves. All questionnaires were
complete (all questions answered).


STATISTICS

The height and BMI z-scores (height-for-age Z and BMI for age Z) were calculated
using a SAS macro and reference database (by age and gender) provided by the CDC
(Centers for Disease Control and Prevention) on the CDC website
(https://www.cdc.gov/nccdphp/dnpao/growthcharts/resources/sas.htm), including
the most recent update on 15/12/2022.

There were N=143 assessments (D0, M6, and M12) in all 59 patients for the
calculation of the PedSQL score. Scores and sub-scores were described using
frequency, mean and standard deviation (SD).

The change from baseline scores (from D0 to M6; from D0 to M12) was tested using
a paired t-test and presented using the mean of difference with a 95% confidence
interval of the difference and p-value.

The effect of treatment initiation timing (Yes vs No), XLH type (familial vs de
novo) was tested using a linear mixed model with a period (as a continuous
parameter), tested effect, and period x tested effect interaction as fixed
effects; the patient ID was included as a random effect. Least Square (LS)
means, and 95% Confidence Intervals (Cis) were provided for each level of the
tested effect. The difference between the LS means of the tested effect was
presented with its 95% confidence interval and p-value.

A Kenward-Roger Degree of Freedom estimation method was used.

All the statistical analysis was performed using SAS 9.4. A 5% significance
threshold was used for all statistical analyses.


RESULTS


PARTICIPANTS’ CHARACTERISTICS AND ENROLLMENT

A total of 59 patients agreed to participate in the aXess patient support
program.

The mean ± SD age of participants was 9.8 ± 3.8 years, and two-thirds were
female.

All patients were diagnosed with XLH. 22% of participants had de novo XLH, 61%
had familial XLH, and 17%, diagnosed with XLH, had no information provided
concerning inheritance. The inclusion in the aXess program occurred on average
8.8 years after the diagnosis of XLH (Table 1). Heights z-scores are on average
lower than the norm (negative average of −0.90), and the outcomes are comparable
whether therapy is initiated or not. The BMI z-scores are generally higher than
the norm (a positive average of 0.68), especially in patients starting therapy
(0.95) vs the others (0.57). This last point is related to the patient’s age:
most patients starting treatment were pre-pubertal (75%). These indicators are
consistent with the characteristics of XLH patients. The variation in z-scores
was greater for height (1.07) than for BMI (0.77).



Table 1 Baseline Demographic and Disease Characteristics of XLH Patients
Monitored in the aXess Program



At enrollment, 16 patients were initiating targeted therapy, and 43 patients
were already being treated with targeted therapy (no patients on conventional
therapy were included). Ten patients (62.5%) who started treatment completed 6
months of follow-up, and 6 (37.5%) completed 12 months of follow-up. Thirty-nine
(91%) and twenty-nine (67%) of the patients who were already receiving targeted
treatment at the time of enrollment completed 6 and 12 months of follow-up,
respectively (Figure 1).



Figure 1 Flow chart. The outline of the selection and flow of XLH patients.

Abbreviation: XLH, X-linked hypophosphatemia.



Almost two-thirds of patients (2.7 years-10 years, 61%) were prepubertal at
enrollment, and 85% of participants attended school on a regular basis.


REAL-LIFE FOLLOW-UP OF PATIENTS IN THE PROGRAM

A total of 154 treatment administrations were monitored for 59 patients. During
the program, a total of 59 deliveries were completed.

A total of 45 training courses were delivered throughout the year to educate
home care nurses about the disease and treatment of XLH patients. A total of 241
follow-up nurse calls were scheduled. Patients starting therapy received an
average of 6.5 calls, compared to 3.2 calls per patient already receiving
treatment (Table 2).



Table 2 Number of aXess Nurse Calls to XLH Patients (Subgroups of Patients
Initiating Treatment and Patients Already Receiving Treatment), to Pharmacy, to
Medical Analysis Laboratory, to Home Care Nurses and to Physician



During the duration of the program, 384 solicited-patient calls and a total of
1252 inbound and outbound calls were completed. Out of these 1252 inbound and
outbound calls, there were 625 calls to the patients, 261 to pharmacists, 212 to
home care nurses, 95 to the medical analysis laboratory, and 59 to the
prescribing physician.

As expected, most patient-requested calls were from patients who were initiating
their treatment at the time of enrollment (Table 2).


IMPACT OF THE PATIENT SUPPORT PROGRAM ON THE QUALITY OF LIFE OF YOUNG XLH
PATIENTS

PEDSQL RESULTS

Tables 3–5 summarize the means and SDS of the PedsQL Generic Core Scales for all
children and subgroups of children initiating treatment and children already
receiving treatment at the time of enrollment. The overall data (all patients)
is shown in Figure 2. Patients already receiving treatment reported higher QOL
scores than patients just starting treatment; these differences did not achieve
statistical significance. Notably, after 6 months, patients who initiated
therapy demonstrated significant improvement in all four components of QOL. This
significance did not persist after 12 months except for the school functioning
domain. Improvements in all domains were significant in patients already
receiving therapy at months 6 and 12.



Table 3 Change from Baseline (D0) to 6 and 12 Months in the Mean PedSQL Generic
Core Scales (Global and Sub-Domains Physical, Emotional, Social, School
Functioning) for All Patients



Table 4 Change from Baseline to 6 and 12 Months in the Mean PedSQL Generic Core
Scales (Global and Sub-Domains Physical, Emotional, Social, School Functioning),
Subgroup of Patients Initiating Treatment



Table 5 Change from Baseline to 6 and 12 Months in the Mean PedSQL Generic Core
Scales (Global and Sub-Domains Physical, Emotional, Social, School Functioning),
Subgroup of Patients Already Receiving Treatment



Figure 2 Mean change from baseline in PedSQL Generic Core Scales summary scores
(Global and sub-domains Physical, Emotional, Social, School functioning) after 6
and 12 months aXess supports. *p < 0.05 for all changes from baseline.



The mean total scores improved from baseline to month 6 and month 12. By month
6, the best results were seen in the emotional, social, and school domains. No
statistically significant improvement was observed in the physical domain (82.0
± 0.3 at month 6 versus 79.4 ± 0.3 at enrollment, Tables 3–5 and Figure 2). By
month 12, the majority of patients reported an improvement in QOL in all
measured domains (physical, emotional, social, and school, 85.4 ± 0.2 at month
12 versus 75.6 ± 0.3 at enrollment, Tables 3–5 and Figure 2).

Figure 3 displays the mean survey scores for the PedsQL-2 survey.



Figure 3 Percentage of response to each PedSQL questionnaire item provided by
XLH patients supported by aXess support program at DO, M6 and M12 - subgroups of
patients initiating treatment and patients already receiving treatment.



At month 6, both groups reported greater improvement in their emotional
functioning (24% and 11% increase, respectively, from day 0). The number of
patients reporting feeling sad, feeling angry or having trouble sleeping
substantially decreased after 6 months.

At month 12, while patients starting treatment reported a greater benefit in
their physical functioning (a 13% rise in score globally and 100% of patients
reported that doing chores around the house, lifting something heavy, and taking
a shower or a bath by themselves, was never a problem after 12 months), patients
already on treatment reported a greater improvement in their school performance
(16% score increase, 61% at D0 versus 83% at month 12 reported that paying
attention at school was never a problem).

PedsQL scores were further analyzed by (1) whether the patient was in pre- or
post-puberty, (2) according to their genetic status (de novo or familial XLH
disease). These two variables did not significantly affect mean total QOL scores
(data not shown).

PATIENTS’ SATISFACTION

Overall, patients were very satisfied with the patient support program. At month
6, participants reported a highly positive impact on their quality of life
(patients rated their global satisfaction as 9.8 ± 0.6 on the 1–10 numerical
scale) and a very favorable influence on treatment adherence from having access
to the aXess program (Table 6).



Table 6 Perception of the Usefulness of the Patient Support Program After 6
Months aXess Monitoring



60% of patients reported feeling less anxious thanks to the aXess program, and
98% were satisfied with the frequency of follow-up calls.

At month 12, participants rated their global satisfaction as 9.2 ± 1.5 on the
1–10 numerical scale. The decreased anxiety of living with XLH was evident for
52% of participants reporting reduced stress levels from being on the aXess
program, and 97% were satisfied with the frequency of follow-up calls (Table 7).



Table 7 Perception of the Usefulness of the Patient Support Program After 12
Months aXess Monitoring




DISCUSSION

XLH is a chronic disorder associated with many complications. The numerous
clinical manifestations and symptoms of XLH can have a significant impact on
physical function, psychological state, emotions, and general quality of life.

Anxiety, distress, lack of confidence, and low self-esteem are common
manifestations of psychological burden in children with chronic diseases,
affecting their social relationships and scholastic experience.15

Taken together, these issues may all contribute to a lower health-related
quality of life in children with XLH, and one of the main concerns in patients
with chronic disorders is to achieve optimal adherence to treatment.

Living with XLH poses a major strain. This multifaceted symptomatology condition
has an impact on many aspects of children’s lives. In addition, any chronic
condition has the potential to have an influence on the family’s quality of
life.

However, little is known regarding the impact of XLH on children’s everyday
lives. Therefore, we sought to assess the potential impact of a patient support
program in assisting patients and their families in adherence to therapy and
their condition management.

Over the period of 2019–2021, the aXess program enrolled 59 patients.
Significant improvements in patient challenges were observed over the course of
the patient support program.

This study describes the benefit of the aXess patient support program on HRQOL
in young patients with XLH, as reported by patients on the PedsQL-2.

Not surprisingly, the majority of patient-requested calls came from patients who
were just starting targeted therapy at the time of enrolment, suggesting a
greater reliance on the support service.

Interestingly, patients who had previously received targeted treatment had
higher QOL scores than patients who had just begun treatment; however, these
differences did not reach statistical significance, most likely due to our small
sample size.

Improvements in all domains were significant in patients already receiving
therapy at months 6 and 12, which was presumably explained by the larger number
of patients in this subgroup.

Notably, at month 6, patients consistently reported that they experienced the
highest improvement in emotional functioning across all groups. In addition,
after 12 months, patients reported significant improvements in their physical
and school performances.

Because XLH is a chronic pediatric condition featuring severe symptoms, these
findings suggest that it requires a longer period for physical function to
improve after therapy is initiated.

More than half of patients reported feeling less anxious thanks to the program.
A vast majority of patients rated the support in taking treatment as highly
positive (8.9 ± 0.6 and 9.1 ± 1.8 scores at month 6 and month 12, respectively).

Our analysis, however, is not without limitations. First, due to the rarity of
the disease, our cohort has a limited number of patients, making it unsuitable
to conduct age-specific group analyses or establish a control group. Moreover,
while after 6 months, patients who initiated treatment demonstrated significant
improvement in all four components of QOL, this significance did not persist
after 12 months except for the school functioning domain. This could be
attributed to the small number of patients in the 12-month group; thus, it would
be interesting to validate the observed improvement in quality of life in a
wider population through a larger international study.

Furthermore, because our study lacked a comparator, it would be necessary to
determine if the increase in patients’ quality of life was due to the program or
the initiation of targeted treatment. The majority of patients (43 patients,
73%) were already on targeted treatment when they were enrolled in the program.
Interestingly, our findings show an increase in the quality of life of these
patients who were already on treatment, suggesting that the program itself has a
favorable effect on the quality of life irrespective of treatment initiation.


CONCLUSIONS

According to this study, patients value support from patient support programs
like aXess when coping with XLH 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.

This patient support program was associated with improved patient quality of
life 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) and
constitutes a cornerstone of the young patient’s care pathway. Assistance with
treatment initiation and compliance, understanding their disease, reducing
anxiety, and assisting them in becoming self-sufficient contribute to overall
improved quality of life. The program links the home environment and overall
illness management, bringing together patients, families, and caregivers.

Our observations suggest that this program provides important information
regarding children’s and their families’ perceptions on living with XLH and
their reported positive experiences with the aXess program. This data may be
used to encourage long-term planning of support programs, as well as to
highlight the vital need for such services within the healthcare system.
Finally, because XLH children’s quality of life is directly tied to the QOL of
those around them, investigating the impact and understanding the needs of
family members would aid in providing adequate assistance to XLH patients and
their caregivers. Based on these preliminary results obtained in France a larger
multicentric study involving a larger number of countries would be of great
interest.


DATA SHARING STATEMENT

Datasets analyzed during the current study are not publicly available but are
obtainable from the corresponding author on reasonable request. As part of the
aXess support action, patients, their legal representatives, and healthcare
professionals grant the right to use the data for communication purposes.


ETHICS APPROVAL

The data presented here is collected as part of a patient support program (PSP),
according to article 84 of French law n°2009-879 of July 21, 2009. These data
were not collected as part of a clinical study, so no ethics committee is seized
or competent in this context. The ethics committee CER U-Paris Cité certifies
that the research leading to the proposed publication did not need approval from
an ethical committee. Regarding data protection, they checked that it was
conducted with respect to the law.

Although these data are not collected as part of medical research, the authors
confirm that all the guidelines outlined in the Declaration of Helsinki have
been followed.


CONSENT TO PARTICIPATE

Prior to the start of the program, all consents were obtained from the PSP
participants’ parents or legal guardians (forms available on request).


FUNDING

aXess is a patient program managed by Patientys-Webhelp Medica and financially
supported by Kyowa Kirin Pharma.


DISCLOSURE

JB, AR and LL report speaker and consulting fees from Kyowa Kirin. AL received
fees through her institution for the Phase I/II trial and a research grant from
Kyowa Kirin International. LN is an employee of Webhelp Medica. IG reports
consulting fees from XLH registry advisory board, outside the submitted work.
The authors report no other conflicts of interest in this work.


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