Corina Leluțiu-Weinberger, Mircea L Filimon, Donald Hoover, Mihai Lixandru, Lucian Hanu, Bogdan Dogaru, Tudor Kovacs, Cristina Fierbințeanu, Florentina Ionescu, Monica Manu, Alexandra Mariș, Elena Pană, Cristian Dorobănțescu, Adrian Streinu-Cercel, John E Pachankis
An mHealth Intervention for Gay and Bisexual Men's Mental, Behavioral, and Sexual Health in a High-Stigma, Low-Resource Context (Project Comunică): Protocol for a Randomized Controlled Trial
JMIR research protocols
metachromatic leukodystrophy mld rare autosomal recessive lysosomal storage disease characterised progressive loss motor function severe decline cognitive function limited information available burden mld places patients families medical social support patients need three ukbased mld patient organisations commissioned online survey followup semistructured interviews describe quantify burdens across mld subtypes stage disease including end life treatment status untreated gene therapy hematopoietic stem cell transplant hsct total 24 patients included study thirteen late infantile li six early juvenile ej two late juvenile lj three adult onset ao six patients received gene therapy one received hsct mld patients receiving disease modifying treatment bore high symptom burden 94 wheelchair dependent 88 required tube feeding 88 incontinent 82 lost speech children either unable attend education needed specialist provision patients reliant numerous medical interventions assistive equipment earlyonset patients li ej wheelchair dependent tube fed ej patients lost speech caregiving responsibilities parents impacted employment finances relationships health patients treated gene therapy hsct mobile able eat normally two thirds children able attend mainstream school impact illness patients caregivers faced extensive level care amount medication number hospital visits educational support required substantial financial constraints often brought inability work also placed considerable strain families study increases understanding burden mld patients families level unmet need treatment disease