MPS Society, MPS House, Amersham, HP7 9LP, UK.
Rare Disease Research Partners, MPS House, Amersham, HP7 9LP, UK.
Orphanet J Rare Dis. 2024 Feb 25;19(1):87. doi: 10.1186/s13023-023-03001-z.
Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information is available on the burden MLD places on patients and their families and the medical and social support these patients need. Three UK-based MLD patient organisations commissioned an online survey, and follow-up semi-structured interviews to describe and quantify these burdens across MLD subtypes, stage of disease (including end of life) and treatment status (untreated, gene therapy or hematopoietic stem cell transplant [HSCT]).
A total of 24 patients were included in the study: thirteen late infantile (LI), six early juvenile (EJ), two late juvenile (LJ) and three adult onset (AO). Six patients had received gene therapy and one had received an HSCT. MLD patients receiving no disease modifying treatment bore a high symptom burden: 94% were wheelchair dependent, 88% required tube feeding, 88% were incontinent, 82% had lost their speech and all the children were either unable to attend education or needed specialist provision. Patients were reliant on numerous medical interventions and assistive equipment. All early-onset patients (LI and EJ) were wheelchair dependent, and tube fed, with all EJ patients having lost all speech. The caregiving responsibilities of parents impacted their employment, finances, relationships and health. Patients treated with gene therapy or HSCT were more mobile and were able to eat normally and two thirds of the children were able to attend mainstream school.
The impact of illness that patients and their caregivers faced was extensive, and the level of care, amount of medication, number of hospital visits and educational support required were substantial. Financial constraints often brought about by inability to work also placed considerable strain on families. The study increases understanding of the burden of MLD on patients and their families, and the level of unmet need in the treatment of the disease.
异染性脑白质营养不良（MLD）是一种罕见的常染色体隐性溶酶体贮积病，其特征是运动功能逐渐丧失和认知功能严重下降。关于 MLD 给患者及其家庭带来的负担以及这些患者所需的医疗和社会支持，信息有限。三个英国的 MLD 患者组织委托进行了一项在线调查，并进行了后续的半结构化访谈，以描述和量化 MLD 各亚型、疾病阶段（包括生命末期）和治疗状态（未治疗、基因治疗或造血干细胞移植[HSCT]）下的这些负担。
本研究共纳入 24 名患者：13 名晚婴型（LI）、6 名早婴型（EJ）、2 名晚青型（LJ）和 3 名成年发病型（AO）。6 名患者接受了基因治疗，1 名接受了 HSCT。未接受疾病修正治疗的 MLD 患者承受着沉重的症状负担：94%的患者依赖轮椅，88%的患者需要管饲，88%的患者失禁，82%的患者丧失了言语能力，所有的孩子要么无法接受教育，要么需要特殊教育。患者依赖于众多医疗干预措施和辅助设备。所有早发型患者（LI 和 EJ）均依赖轮椅和管饲，所有 EJ 患者均丧失了全部言语能力。父母的照顾责任影响了他们的就业、财务、人际关系和健康。接受基因治疗或 HSCT 治疗的患者更具活动能力，能够正常进食，三分之二的孩子能够入读主流学校。
疾病给患者及其照顾者带来的影响广泛，所需的护理水平、药物数量、就诊次数和教育支持都相当大。无法工作导致的经济限制也给家庭带来了相当大的压力。该研究增加了对 MLD 给患者及其家庭带来的负担以及该疾病治疗中未满足需求的认识。
