Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Abstract

BackgroundMorquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL).MethodsThis patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and children (7-17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired.ResultsThe clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and eye problems. Mobility was considerably impaired: 44.4% of children and 85.2% of adult patients were using a wheelchair. High wheelchair reliance significantly reduced QoL. This was mainly driven by reduced scores in the Mobility, Self-care, and Usual Activity domains. The HRQoL utility values were 0.846, 0.582 and 0.057 respectively in adults not using a wheelchair, using a wheelchair only when needed and always using a wheelchair; values were 0.534, 0.664 and –0.180 respectively in children. Employed adult patients had a better HRQoL than unemployed patients (HRQoL utility value 0.640 vs. 0.275, respectively).64% of children and 74% of adult patients had joint pain; fatigue was reported by 69% of children and 63% of adults. Overall, increased mobility was associated with more severe and widespread pain and more fatigue.ConclusionsThe HRQoL of Morquio A patients is mainly driven by the ability to remain independently mobile without becoming wheelchair dependent. Their QoL reduces dramatically if they always have to use their wheelchair. Even a slightly better mobility (wheelchair use only when needed) greatly improves QoL. Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study

“…The APPT showed a pain burden at baseline, predominantly in the lower extremities, which confirms the findings from a patient‐reported outcomes study in Morquio A patients in which 64% of 36 children and 74% of 27 adults reported joint pain, most often in the lower extremities [Hendriksz et al, 2014b]. Pain was also considerably reduced from baseline by ERT in this pilot study.…”

Psychological Health in Adults with Morquio Syndrome

“…Available data include two studies. Hendriksz et al (2014) examined overall quality of life (QOL) in children and adults with Morquio A, using the HealthRelated Quality of Life (HRQoL) EuroQoL (EQ)-5D-5L questionnaire. Overall QOL was inversely related to patient mobility, such that high reliance on a wheelchair for mobility significantly reduced QOL.…”

Enfermedad de Morquio (mucopolisacaridosis IV-A): aspectos clínicos, diagnósticos y nuevo tratamiento con terapia de reemplazo enzimático

“…Si bien hay diferencias en la presentación clínica, se han descrito radiológicamente los siguientes hallazgos: silla turca en forma de J, aumento del espacio diploico en la calota, clavículas cortas y gruesas, cuerpo vertebral en pico y borde posterior festoneado (Figura 1), alas ilíacas redondeadas, coxa valga (Figura 2), epífisis hipoplásicas (predominantemente, a nivel distal de cúbito y radio) (Figura 3), engrosamiento y acortamiento diafisario, retraso de la edad ósea con respecto a la edad cronológica en los huesos de la mano (disociación carpo-epifisaria) y osificación tardía o no presente del escafoides (Figura 4). [1][2][3] El análisis de la frecuencia de los distintos componentes de la DM sobre la base del registro Morquio muestra en orden decreciente genu valgo, giba lumbar (Figura 1), pectumcarinatum, deformidades en las muñecas, la cadera, el fémur y el tobillo. 7 Posiblemente, otra manifestación característica y que solo se evidencia en la MPS IV-A es la hiperlaxitud articular (Figura 4).…”

“…InTRODuCCIÓn La mucopolisacaridosis tipo IV-A (MPS IV-A), también conocida como enfermedad de Morquio, es una enfermedad por depósito lisosomal con herencia autosómica recesiva. 1 F u e d e s c r i t a e n 1 9 2 9 e n f o r m a separada por Luis Morquio (pediatra de Uruguay) y James Brailsford ( r a d i ó l o g o d e I n g l a t e r r a ) . S u incidencia en la población general es de 1/200 000, aunque se han reportado desde 1/76 000 nacidos vivos en el norte de Irlanda hasta 1/640 000 en el oeste de Australia.…”

“…3 Como en las otras MPS, existen distintas formas de presentación, que varían desde una forma grave (también llamada clásica) hasta una forma leve (o llamada atenuada). 1 La primera variable que distingue a estos fenotipos es la presencia de manifestaciones típicas antes del año Artículo especial de vida en la forma grave y una aparición de síntomas recién en la segunda década de vida en la forma atenuada. Otras diferencias serán la estatura (≤ 120 cm en la forma grave y ≥ 140 cm en la forma atenuada), el grado de compromiso orgánico y la cuantificación del sustrato, entre las más características.…”