ReviewOrphanet journal of rare diseases2022
Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise.
Review in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 5 citations in OpenAlex.
- Inherited Metabolic Disorders in India: Progress and Priorities.Indian journal of pediatrics · 2026Article
- Regional Analysis of the Structural Availability of Physical and Rehabilitation Medicine Services Funded by the National Health Insurance Fund for Patients with Rare Diseases in Bulgaria.Healthcare (Basel, Switzerland) · 2026Article
- Systemic barriers to rare disease management in conflict zones: insights from a refugee with sturge-weber syndrome in Sudan.Journal of health, population, and nutrition · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.Frontiers in genetics · 2024Article
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review.Journal of clinical medicine · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 8 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases affect > 400 million people globally with a disproportionate burden falling on children, resulting in high morbidity and mortality rates. Affected individuals in some under-resourced countries have limited access to expert care or treatments; moreover, they suffer long diagnostic journeys during which debilitating and life-threatening complications occur. Lysosomal storage disorders (LSD) are prototype rare diseases due, in the main, to inherited deficiencies of lysosomal enzymes/transporters that affect up to 1 in 5000 newborns. Recognizing the need to provide treatment access to people with LSDs everywhere, a collaborative partnership was pioneered and set up 30 years ago. Partnering with local authorities, non-government organizations across six continents, local as well as international experts, a robust, sustainable Humanitarian Program emerged that now represents the most enduring charitable access program for LSD treatment. Here we present the history, process, lasting beneficial effect of the program to develop healthcare systems and infrastructures, and the lessons learned from addressing major unmet needs for LSDs.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.