Trial reportJournal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS)2014
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
Trial report in Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001262 (Early Copper Histidine Therapy in Menkes Disease), which is not on this map. Cited by 27 papers, 1 of them a synthesis 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.
Early Copper Histidine Therapy in Menkes Disease
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Cuproptosis: Mechanisms, biological significance, and advances in disease treatment-A systematic review.CNS neuroscience & therapeutics · 2024Pooled it
- Safety and efficacy of droxidopa for dysautonomia in adults with Menkes disease and occipital horn syndrome in the USA: a randomised phase 1/2a crossover trial.EClinicalMedicine · 2026Article
- Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. Reply.The Journal of clinical investigation · 2026Article
- Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease.The Journal of clinical investigation · 2026Article
- Copper Homeostasis and Cuproptosis in Neurological Disorders.Drug design, development and therapy · 2026Review
- Intravenous AAV9-Science advances · 2025Article
- Mammalian copper homeostasis: physiological roles and molecular mechanisms.Physiological reviews · 2025Review
- Cuproptosis and Cu: a new paradigm in cellular death and their role in non-cancerous diseases.Apoptosis : an international journal on programmed cell death · 2024Review
- Bis(amino acidato)copper(II) compounds in blood plasma: a review of computed structural properties and amino acid affinities for CuArhiv za higijenu rada i toksikologiju · 2024Review
- Nanomedicine-based disulfiram and metal ion co-delivery strategies for cancer treatment.International journal of pharmaceutics: X · 2024Review
- Phenothiazine appended thiophene derivative: a trilateral approach to copper ion detection in living cells and aqueous samples.RSC advances · 2024Article
- LAT1 (SLC7A5) catalyzes copper(histidinate) transport switching from antiport to uniport mechanism.iScience · 2023Article
- Plant-derived chelators and ionophores as potential therapeutics for metabolic diseases.Chemical Society reviews · 2023Review
- Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease.Journal of clinical medicine · 2023Article
- Copper homeostasis and cuproptosis in health and disease.Signal transduction and targeted therapy · 2022Review
- The status of chemical elements in the blood plasma of children with autism spectrum disorder in Tunisia: a case-control study.Environmental science and pollution research international · 2020Article
- Targeted next generation sequencing for newborn screening of Menkes disease.Molecular genetics and metabolism reports · 2020Article
- Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).Molecular genetics and metabolism reports · 2020Article
- Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.Science (New York, N.Y.) · 2020Article
- Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).Molecular genetics & genomic medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that usually commence at 6-8 weeks of age. Death by age three years is typical. While provision of working copies of ATP7A to the brain by viral vectors is a promising strategy under development, the only treatment currently available is subcutaneous copper injections. These can normalize circulating blood levels and may replete brain copper depending on the molecular context, e.g., the severity of ATP7A mutation and potential presence of mosaicism. In this paper, we summarize somatic growth and neurodevelopmental outcomes for 60 subjects enrolled in a recently concluded phase I/II clinical trial of copper histidine for Menkes disease (ClinicalTrials.gov Identifier: NCT00001262). Primary outcomes indicate highly statistically significant improvements in gross motor, fine motor/adaptive, personal-social, and language neurodevelopment in the cohort of subjects who received early treatment prior to onset of symptoms (n=35). Correlating with these findings, quantitative parameters of somatic growth indicated statistically significant greater growth in head circumference for the initially asymptomatic group, whereas weight and height/length at age three years (or at time of death) did not differ significantly. Mortality at age 3 was higher (50%) in subjects older and symptomatic when treatment commenced compared to the asymptomatic group (28.6%). We conclude that early copper histidine for Menkes disease is safe and efficacious, with treatment outcomes influenced by the timing of intervention, and ATP7A mutation.
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.