ArticleJournal of child neurology2013
Clinical trials in rare disease: challenges and opportunities.
Article in Journal of child neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03650569 (Italian Angelman Syndrome Registry Project), which is not on this map. Cited by 127 papers, 4 of them syntheses that pooled it.
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.
Italian Angelman Syndrome Registry Project
Who cites it
127 citing papers in PubMed, 4 syntheses or guidelines pooled it, 214 citations in OpenAlex.
- A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases.Orphanet journal of rare diseases · 2024Pooled it
- The temporal trend of placebo response in migraine prevention from 1990 to 2021: a systematic literature review and meta-analysis with regression.The journal of headache and pain · 2023Pooled it
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- Pooled it
- Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort.Obesity (Silver Spring, Md.) · 2026Trial
- Trial
- In search of effective therapies: the current landscape of phase II trials in patients with advanced soft tissue sarcoma.Journal of cancer research and clinical oncology · 2023Trial
- Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.The lancet. Diabetes & endocrinology · 2022Trial
- Health impact of tafamidis in transthyretin amyloid cardiomyopathy patients: an analysis from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and the open-label long-term extension studies.European heart journal. Quality of care & clinical outcomes · 2022Trial
- A group-sequential randomized trial design utilizing supplemental trial data.Statistics in medicine · 2022Trial
- Trial
- Patient engagement in protocol development for rare disease clinical trials: a framework.Research involvement and engagement · 2026Article
- Article
- The Case for Master Protocols for Rare Neurological Diseases.Annals of neurology · 2026Review
- Level of Evidence and Strength of Recommendations in US Medical Society Clinical Practice Guidelines, 2019-2023: A Cross-Sectional Analysis.Journal of general internal medicine · 2026Article
- Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study.Orphanet journal of rare diseases · 2026Observational
- Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development.JIMD reports · 2026Article
- Unifying to Advance Understanding: Collaborative, Community-Driven and 'Open' Approaches for Better Science in Sport.Sports medicine (Auckland, N.Z.) · 2026Review
- Clinical trial awareness and participation attitudes among patients with epidermolysis bullosa and their caregivers: a nationwide cross-sectional study from Saudi Arabia.Frontiers in medicine · 2026Article
- Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery.Stem cells international · 2026Review
67 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The neuronal ceroid lipofuscinoses constitute one of many groups of rare childhood diseases for which disease-modifying treatments are nonexistent. Disease-specific barriers to therapeutic success include incomplete understanding of disease pathophysiology and limitations of treatments that cannot adequately cross the blood-brain barrier to access the central nervous system. Therapeutic development in the neuronal ceroid lipofuscinoses shares many challenges with other rare diseases, such as incomplete understanding of natural history to inform trial design, need for alternatives to the randomized controlled clinical trial, requirement for more sensitive outcome measures to quantify disease, limited access to resources required to mount a clinical trial (including funding), and difficulties of recruiting a small sample to participation. Solutions to these barriers will require multicenter collaboration, partnership with patient organizations, training a new generation of researchers interested in rare diseases, and leveraging existing resources.
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.