Amel Karaa
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View article: The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency Open
This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals …
View article: Qualitative study of fatigue in adults with primary mitochondrial disease: Development of the PROMIS Fatigue Mitochondrial Disease Short Form
Qualitative study of fatigue in adults with primary mitochondrial disease: Development of the PROMIS Fatigue Mitochondrial Disease Short Form Open
The nine-item PROMIS Fatigue Mitochondrial Disease Short Form is the first PROM designed specifically to assess fatigue in PMD. This study demonstrates the content validity of the short form, and future longitudinal studies will assess its…
View article: Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial Open
Background As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM). However, the pr…
View article: T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood
T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood Open
T cells have been shown to maintain a lower percentage (heteroplasmy) of the pathogenic m.3243A>G variant ( MT‐TL1 , associated with maternally inherited diabetes and deafness [MIDD] and mitochondrial encephalomyopathy with lactic acidosis…
View article: P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns
P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns Open
Mucopolysaccharidosis, type 1 (MPS1), a lysosomal disorder caused by pathogenic variants in IDUA, was added to the United States Recommend Universal Screening Panel for newborn screening (NBS) in 2015. Positive NBS results for MPS1 are com…
View article: Characterization of Fatigue in Primary Mitochondrial Myopathies
Characterization of Fatigue in Primary Mitochondrial Myopathies Open
Fatigue was one of the most widely discussed experiences discussed by participants and was considered the most important symptom/impact to treat by most of the participants. The Modified Fatigue Impact Scale could be used in future clinica…
View article: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Open
Background Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE ( NCT02795676 ) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease with an annualised es…
View article: Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life
Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life Open
INTRODUCTION: Fabry disease is a rare multisystemic lysosomal disease resulting in variable manifestations of the gastrointestinal (GI), neurologic, cardiac, and renal systems. Whether GI manifestations are a result of gut dysmotility is u…
View article: Phenotypes of undiagnosed adults with actionable OTC and GLA variants
Phenotypes of undiagnosed adults with actionable OTC and GLA variants Open
Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to…
View article: The evolution of the mitochondrial disease diagnostic odyssey
The evolution of the mitochondrial disease diagnostic odyssey Open
Background Mitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey, and factors that affect it. Our goals are to report the results of the 2018 Odyssey2 (OD…
View article: Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy Open
This study provides Class I evidence that elamipretide does not improve the 6MWT or fatigue at 24 weeks compared with placebo in patients with primary mitochondrial myopathy.
View article: Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks Open
Importance In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC)…
View article: Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry Open
During sustained treatment with agalsidase beta in young Fabry patients with a predicted classic phenotype or with unclassified GLA variants with similar characteristics, the decline in eGFR was modest among male and female patients with L…
View article: Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease Open
Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of …
View article: Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children Open
In the field of mitochondrial medicine, correlation of clinical phenotype with mutation heteroplasmy remains an outstanding question with few, if any, clear thresholds corresponding to a given phenotype. The m.8344A>G mutation is most comm…
View article: Issue Information
Issue Information Open
FREQMAX provides an alterna ve approach for determining
View article: Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation Open
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextua…
View article: Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells Open
Many mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA). Patients' cells contain a mixture of mutant and nonmutant mtDNA (a phenomenon called heteroplasmy). The proportion of mutant mtDNA varies across patients and…
View article: Mitochondrial diseases in North America
Mitochondrial diseases in North America Open
The NAMDC Registry data confirm the high variability of clinical, biochemical, and genetic features of participants with MtDs. This study serves as an important resource for future enhancement of MtD research and clinical care by providing…
View article: A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy
A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy Open
Background This study aims to evaluate the effect of subcutaneous (SC) elamipretide dosing on exercise performance using the 6 min walk test (6MWT), patient‐reported outcomes measuring fatigue, functional assessments, and safety to guide t…
View article: Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus Open
Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a dru…