Poster: Living with late-onset Pompe disease in the UK: interim results characterising the patient journey and burden on physical, emotional and social quality of life

EP.201

Living with late-onset Pompe disease in the UK: interim results characterising the patient journey and burden on physical,

emotional and social quality of life

Allan Muir,1 Kayuri Odedra,2 Neil Johnson,2 Lisa Bashorum,2 Anjala Patmore,3 Peter Slade,3 Jane Lewthwaite4

1Pompe Support Network, Buriton, Hampshire, UK; 2Amicus Therapeutics UK Limited, Marlow, UK; 3Cobalt Research & Consulting, London, UK; 4Association for Glycogen Storage Disease (UK) Limited, Oldbury, UK

INTRODUCTION

• Pompe disease, a rare autosomal recessive disorder characterised

by progressive skeletal and/or respiratory muscle weakness, is a

devastating condition for those diagnosed and their families1

- Ultimately, as their condition deteriorates, many people with late-onset

Pompe disease (LOPD) will require the use of a wheelchair and/or

respiratory support2,3

- Dependency on a wheelchair and respiratory support considerably

impacts a person's ability to partake in daily activities and

significantly reduces quality of life.4,5

• To date, few studies have investigated individuals' experiences and

METHODS

In-depth interviews of people living with LOPD

• The qualitative interview study received the appropriate ethical approvals.
• Screening questionnaires and interviews were scheduled with study participants (Figure 1).
• The 1-hour qualitative interviews were audio-recorded and transcribed
• • Interview discussion themes are presented in Table 1.
• Repeating themes were organised into theoretical constructs for analysis.

Figure 1. Study flow

RESULTS

Figure 3. Schematic of the archetypal emotional journey from initial symptoms to being diagnosed with and living with LOPD

Figure 4. Typical stages of the diagnostic journey

Noticeable

symptoms

• It is only post-diagnosis that	• A noticeable decline in physical
many people realise that they
capabilities, often observed by
have been symptomatic, often
others first
mildly, from a young age
• Typical symptoms include change
-	Inclined to falls and being
in gait, difficulty climbing stairs,
	'clumsy'
	inability to easily move from
- Back pain
seated to standing, falls,
-	General fatigue
breathlessness and sleep apnoea
-	Poor performance in physical
• For a few, respiratory issues prior

activity	to muscular symptoms

• Numerous visits to a general practitioner - told to monitor symptoms, exercise and go to physiotherapy
• Subsequent visits to specialist HCPs (cardiology, respiratory, neurology, rheumatology and hepatology)
• Possible misdiagnosis and prescribed incorrect treatments

Pompe diagnosis

• Correct diagnosis after numerous tests and muscle biopsy (takes from a few months to 10 years)
• Often a delay of several months to consult a Pompe specialist, which in turn delays treatment, with a noticeable deterioration in condition during the delay

emotions associated with the trajectory from noticing early symptoms

Phases of

Undetected	Tes�ng and	Diagnosis	Treatment started

Living with LOPD

COVID-19

Undetected

symptoms

HCP visits and misdiagnosis

to receiving a diagnosis of LOPD and living with the disease.

OBJECTIVES

• To characterise the experiences of people from the United Kingdom

(UK) living with LOPD

- From first symptoms, through diagnosis and disease progression;

mapping people's feelings, attitudes and behaviours at each stage

- Impact of LOPD on daily activities, and the emotional and physical

challenges.

• Here, we present interim results from interviews with people living with

People were invited to par�cipate in the study by the two Pompe disease pa�ent advocacy organisa�ons in the UK*

Respondents completed a screening ques�onnaire to assess their eligibility†

n=27

Each eligible par�cipant kept a preinterview diary of their experiences of living with LOPD

n=27

Each eligible par�cipant took part in a 1-hour,in-depth, qualita�ve video or phone interview between June and July 2021 n=27

Eligibility criteria

• ≥18 years of age
• Diagnosis of LOPD
• UK resident
• Provided wri�en informed consent

the journey

Emo�onal experience

misdiagnosis

Tes�ng/misdiagnosis	Treatment started
"What is wrong with me?"	"This is be�er"

Diagnosis	Adap�ng to
"This isn't real"	physical decline

Challenges of living with LOPD

• The majority of participants faced challenges as their condition

deteriorated, with impacts on the following:

- Lifestyle, daily activities, social life and holidays

- Ability to continue working

- Dependency on others, including family members and carers

- Family relationships.

Figure 6. Frequency and importance of treating symptoms

Walking difficulties

Fatigue

Balance issues

Breathing problems

Other mobility problems

Feeling cold/chills

Muscle pain

Anxiety/depression

Sleeping problems

LOPD; interviews with healthcare professionals (HCPs) are ongoing,

with results to be reported at a future meeting.

*Pompe Support Network and Association for Glycogen Storage Disease (UK); † More than 27 respondents were screened and eligible for the study; however, it was not possible to arrange interviews with all the respondents within the alloted time.

•

In general, participants felt that disruptive life events, such as accidents

or bereavements, added to the physical and emotional burden.

•

Most participants felt that LOPD severely affected their lives

(Figure 5)

Dysphagia

Continence issues

Gastrointestinal/digestion problems

Headaches

Table 1. Interview discussion themes

Discussion theme	Discussion topic(s)	Example question(s)
Personal context	People were asked to (1) introduce themselves, (2) provide some background on	"Tell me a bit about Pompe and you"
	their experiences with LOPD, and (3) discuss the perceived impact of COVID-19 on
	their care and emotional wellbeing
Prediagnosis	People were asked to (1) draw a timeline from first symptoms to now, and (2)	"Describe the thoughts and feelings you experienced alongside the symptoms"
	describe their symptoms and experiences before receiving a diagnosis of LOPD

	O�en, ini�al relief at
	receiving a diagnosis is
	followed by a period
	of emo�onal turmoil
Symptoms no�ced	Affec�ng my life
"This restricts
"This isn't right"	me/everything"

Disrup�ve life event

(eg a divorce or bereavement)

"This is hard for me

to deal with"

Time*

COVID-19

"This has made things worse"

- On a scale of 0-10 (with 0 being no impact at all and 10 being a

severe impact), the mean (±standard deviation) score was 8.5 (±1.8).

Figure 5. Perceived impact of LOPD on participants' lives

No	0
impact
	1	Factors associated with a
		greater perceived impact:

Scoliosis						Have experienced symptom
Osteoporosis*						Think symptom is important
Rashing						to treat
Nausea
0	10	20	30	40	50	60	70	80	90	100
		Proportion of participants (%)

*Comorbidity (and not a symptom).

Diagnosis	People were asked to describe their experience of the diagnostic process, from first	"Tell me how your diagnosis was arrived at"
	consultation with an HCP to receipt of the correct diagnosis	"Describe your feelings on first hearing the diagnosis"
Post-diagnosis	People were asked to describe (1) how the disease has progressed since diagnosis,	"How would you describe living with Pompe to someone who does not know
	and (2) the accompanying emotions	the condition?"
Living with LOPD	People were asked to describe their experience of living with LOPD, including (1) the	"What symptoms do you live with now?"
	symptoms and severity, (2) their emotional state, and (3) any challenges	"What aids, if any, do you use?"
LOPD disease	People were asked to (1) describe their interactions with HCPs, and (2) discuss the	"What, if any, additional support/help would you like in relation to your
management landscape	advantages and disadvantages of their current disease management, including any	treatment?"
	unmet needs	"What could improve the experience for you?"
Comorbidities	People were asked to describe their other conditions	"Do you have and receive treatment for any other conditions?"
Future hopes and	People were asked about their hopes for the future management of their condition	"How would you like to see treatments for Pompe disease developing in
expectations		the future?"

Figure 2. Characteristics of study participants

	Anxiety	Anxiety		Anger
					Denial
			Depression
Thoughts			Despera�on		Depression
		Frustra�on		Fear
and feelings
				Gra�tude
					Guilt
					Relief
	"I noticed that stairs
	would become		"To be fair, in the
	difficult. If everybody
		beginning, it was a
	went to a hotel, I
		relief, because I
	prayed being shown
		thought I had cancer;
	to a room by a porter
		my husband had
	who took the case,
		thought I had motor
	because otherwise, it
Quotes		neurone disease."
would take me a long
	time to get up."

Gra�tude

Upli� in mood

Acceptance over �me

Adapta�on over �me

Anger

Guilt

Loss

"We treated it like losing something, like losing a friend. And going through the mourning process of all the…anger and resentment, and then the acceptance and the moving forward."

Anxiety

Fear

Loneliness

		2						• Younger age
		3						• Physically active prior to diagnosis
		4						•	Financial hardship
	Score	5						Factors associated with a lesser
	6
							perceived impact:
		7						• Older age
		8						• Able to continue work
							•	Able to continue previous hobbies
		9						• No financial hardship
Severe		10
impact		0	10	20	30	40	50	60	70	80	90	100

Proportion of participants (%)

People were asked to score the impact of Pompe disease on their lives on a scale of 0-10, with 0 being no impact and 10 being an extremely severe impact. Associations were not analysed.

Symptoms

• The most frequently mentioned symptoms associated with LOPD

CONCLUSIONS

• Findings from the participant interviews have provided
insights into the psychological and emotional impact of
the diagnostic process and of living with LOPD:
- While every participant's experience was different,
	this study identified an archetypal emotional journey
-	The diagnostic process was generally long and
	distressing, with most participants emphasising their
	desire to reduce the length of time to receiving a
	diagnosis, being referred to a specialist HCP, and
	starting treatment
-	Participants requested access to additional support

"I had to wait 5 years	"Once I got onto

"If I got COVID, there

were walking difficulties (reported by n=27 people; 100.0%), fatigue

at the point of diagnosis, and recommended

27Total number of participants:

COUNTRY

Diagnosis Study

[for diagnosis], by	[treatment],
which time I'd gone
I felt better
into a wheelchair.
- like something
I mean, if I'd been
was being done."
diagnosed in a year…"

was that element

because my

breathing is so

affected…it was a

genuine fear."

(n=26; 96.3%), balance issues (n=22; 81.5%) and breathing problems

(n=19; 70.4%) (Figure 6).

• Of the Pompe-specific symptoms, walking difficulties (n=15; 55.6%),

fatigue (n=10; 37.0%), breathing problems (n=10; 37.0%), balance

educating general practitioners on Pompe disease.

• There remain multiple unmet needs throughout the

disease journey for people living with LOPD.

MEAN AGE

*Non-linear scale.

issues (n=6; 22.2%), continence issues (n=6; 22.2%) and muscle pain

(n=5; 18.5%) were reported as the most important to treat (Figure 6).

56years

MEAN AGE AT DIAGNOSIS

43years

England: N. Ireland: Scotland: Wales:

23 0 0 4

MISDIAGNOSISGENDER

Participants

Study participants

• The characteristics of participants (n=27) are presented in Figure 2.

Disease journey

COVID-19

• For most participants, the COVID-19 pandemic has been a period of
increased anxiety, low mood and physical deterioration
-	Given a vulnerability to respiratory illnesses, the fear of contracting
	COVID-19 has been a key concern
-	Isolation and reduced contact with family and friends has

Acknowledgements

The authors thank the people who participated in the study, their families, and Pompe disease patient organisations.

The authors acknowledge the contribution of Professor Derralynn Hughes and Gerard McCaughley, Amicus Therapeutics, Inc., to the study.

This study was conducted by Medicys and Cobalt Research & Consulting, funded by Amicus Therapeutics, Inc.

Medical writing assistance was provided by Anna Campbell, PhD, CMPP, of Cence, funded by Amicus Therapeutics, Inc.

Received ≥1

52%

• Figure 3 depicts some of the emotional aspects to participants' diagnostic journeys and of living with LOPD.

been difficult

The presenter, Allan Muir, declares consulting fees (unrelated to this project) from Amicus Therapeutics, Inc. and is Chair of the board of trustees for the Pompe Support Network.

MEAN TIME SINCE DIAGNOSIS

13years

33% misdiagnosis

48%

0	10	20	30	40	50	60	70	80
				Age (years)

•	Typical stages of participants' diagnostic journeys are presented in Figure 4.
•	A range of factors influenced the journey to participants being diagnosed with LOPD:
	- Age at noticeable symptoms and order in which symptoms emerged
	-	Time to diagnosis and early interactions with HCPs
	-	Age and availability of therapy at diagnosis.

- Valuable exercise and support facilities were unavailable
- Reduced availability of in-home care
-	Temporary cessation of enzyme-replacement therapy
-	Reduced contact with HCPs and fewer assessments (eg lung
	function tests).

References

1. Kishnani PS et al. Genet Med 2006;8:267-88.
2. van der Beek NA et al. Neuromuscul Disord 2009;19:113-7.
3. Hagemans ML et al. Brain 2005;128:671-7.
4. Hagemans ML et al. Neurology 2004;63:1688-92.
5. Hagemans ML et al. Neuromuscul Disord 2007;17:537-43.

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This study was supported by Amicus Therapeutics, Inc.

Presented at the World Muscle Society 2021 Virtual Congress, 20-24 September.