IMPORTANCEMutations of the glucocerebrosidase gene, GBA1 (OMIM 606463), are the most important risk factor for Parkinson disease (PD). In vitro and in vivo studies have reported that ambroxol increases β-glucocerebrosidase (GCase) enzyme activity and reduces α-synuclein levels. These observations support a potential role for ambroxol therapy in modifying a relevant pathogenetic pathway in PD.OBJECTIVE To assess safety, tolerability, cerebrospinal fluid (CSF) penetration, and target engagement of ambroxol therapy with GCase in patients with PD with and without GBA1 mutations.INTERVENTIONS An escalating dose of oral ambroxol to 1.26 g per day.

AimTo explore experiences of health services and unmet care needs by people with late-stage Parkinson’s in England.MethodTen participants, at Hoehn and Yahr stage 4 or 5, were interviewed using semi-structured open-ended questions. Data were analysed using qualitative thematic analysis.FindingsParticipants reported that whilst under the treatment of specialist hospitals, the majority of care provision had shifted into the community, often because hospital-based services were felt to be difficult to access and have limited benefit to them. When using health-care services, participants frequently experienced having to ‘fit-in’ to service structures that did not always accommodate their complex needs. Despite high levels of disability, participants expressed their desire to maintain their identity, normality of interests and activities in their lives, including remaining in their own homes. This was facilitated by bespoke care and equipment, and positive relationships with care providers. Knowledge on disease management was a key factor in their perceived ability to remain in control. Family caregivers had a central role in facilitating care at home. There was uncertainty about and little planning for the future, and moving to a residential nursing home was perceived an undesirable but potentially necessary option for future care.ConclusionUnmet care needs identified by people with late stage Parkinson’s in England include greater flexibility of healthcare structures and bespoke service provision, to accommodate their individual complex needs. Support in their own homes and positive relationships with healthcare providers help People with Parkinson’s (PwP) to maintain a degree of normality and identity, and provision of information help them maintain some control. There is a need for more informed discussions on future care planning for this specific population.

Background. The complex nature of late-stage Parkinson’s requires multiagency support and leads to an increased burden on family members who assume a multiplicity of responsibilities. The aim of this study is to further understand the lived experiences of family-caregivers and their perception of, and satisfaction with, service provision. Methods. This qualitative substudy was a part of the European multicentre Care of Late-Stage Parkinsonism (CLaSP) project. Purposive sampling resulted in a sample of eleven family-caregivers of people with late-stage Parkinson’s, who were interviewed using semistructured open-ended questions. Thematic analysis followed. Findings. Three overarching themes were developed from the data: ensuring continuous support is vital to providing care at home, perceiving unmet service provision needs, and advocating and co-ordinating all aspects of care take their toll. These themes include not only experience of services that caregivers find supportive in order to deliver care but also of disjointed care between multiple agencies, a perceived lack of Parkinson’s expertise, and there was a lack of anticipatory future planning. The constancy and scope of the family-caregiver role is described, including the need to project manage multiple aspects of care with multiple agencies, to be an advocate, and to assume new roles such as managing finances. Multiple losses were reported, which in part was mitigated by gaining expertise through information and support from professionals and organised and informal support. Conclusion. The intricacies and consequences of the family-caregivers’ role and their experience of service provision indicate the need to acknowledge and consider their role and needs, fully involve them in consultations and provide information and joined-up support to improve their well-being, and ensure their continuous significant contribution to the ongoing care of the person with Parkinson’s.

AimTo explore experiences and views about care needs and service use by people with late-stage Parkinsonism.MethodTen participants at Hoehn and Yahr stage 4 or 5 were interviewed using semi-structured open ended questions and qualitative content analysis.FindingsDespite severe disability, participants expressed their desire to maintain normality of activities and interests in their lives. Many perceived that even though health care was provided by professionals they could do nothing more for them. Participants experienced having to ‘fit-in’ to service structures that did not always accommodate their complex needs. The quality of relationships with health care professionals and formal carers shaped perception of service provision and mediated adaptation. Informal support and knowledge on disease management were key factors in their perceived ability to remain in control and to enable normal functioning. There was common reluctance to discuss, and uncertainty about, future plans. For example, moving to a residential nursing home was perceived an undesirable but potentially necessary only option for future care.ConclusionAddressing these findings including greater flexibility of healthcare structures and better future planning could increase ability of patients with late-stage parkinsonism to remain at home and improve quality of life of patients in this late disease stage.

The Parkinson's Families Project is a multi-centre genetic epidemiology study.AimsTo identify new genetic variants that predispose to or cause familial or early onset PD.MethodsFamilies with either familial or early onset PD are recruited. The ABN BNSU is a source of participant recruitment, by which patients with familial PD from across the UK can be notified to the study team monthly by ABN members. Permission to contact the patient is obtained from the patient through the consultant. Following informed consent, patients provide blood samples for genetic analysis and complete standard study questionnaires.Results(April 2015–Jan 2016): Over 10 months we have received 96 BNSU referrals (mean 10/month) from 33 consultants. We have received 35 permission-to-contact forms from patients (36.5%) and 19 patients/families have completed study enrollment (19.8% recruitment rate).ConclusionsThe BNSU is an invaluable source of referral for patients with rare diseases from across the UK, and we currently have a 20% patient recruitment rate. However, there is a delay from study initiation to completion of patient recruitment. We could improve the relatively low rate of patient contact by establishing a formal system of regular follow-ups for consultants and an anonymised tracking system for BNSU-referred patients. Finally, we suggest the possibility of multi-source recruitment through Parkinson's UK, local study sites, geriatricians and PD nurses.