The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders

Osara, Yetsa; Coakley, Kathryn E.; Aisthorpe, Alana; Stembridge, Adrya; Quirk, Meghan E.; Splett, Patricia L.; Rohr, Fran; Singh, Rani H.

doi:10.1111/jep.12428

Cited by 2 publications

(2 citation statements)

References 6 publications

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“…based guidelines to increase diagnosis rates and raise awareness about the management of symptoms in line with the best available evidence and to aid the development of expected standards of care. The approach that has been used in this methodology has been used successfully for the development of other medical guidelines; For example, the American College of Medical Genetics (ACMG), interpretation of sequence variants(84) for the diagnosis and treatment of phenylketonuria (PKU)(85), and the Maple Syrup Urine Disease (MSUD) guidelines(86). It is crucial that the patient and family voice is heard in developing such standards and guidelines.Our results highlight the critical need for early diagnosis and document the current expected care standards for laboratory, clinical and radiological diagnostic investigations and assessments.…”

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confidence: 99%

“…College of Medical Genetics (ACMG), interpretation of sequence variants(84) for the diagnosis and treatment of phenylketonuria (PKU)(85), and the Maple Syrup Urine Disease (MSUD) guidelines(86). It is crucial that the patient and family voice is heard in developing such standards and guidelines.Our results highlight the critical need for early diagnosis and document the current expected care standards for laboratory, clinical and radiological diagnostic investigations and assessments.…”

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confidence: 99%

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Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

Mole

Schulz

Badoe

et al. 2020

Preprint

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Background: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2), or Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL), is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition. Methods: An expert mapping tool process was developed ranking multidisciplinary professionals, with knowledge of CLN2 disease, diagnostic or management experience of CLN2 disease, or family support professionals. Individuals were sequentially approached to identify two chairs, ensuring that the process was transparent and unbiased. A systematic literature review of published evidence using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidance was independently and simultaneously conducted to develop key statements based upon the strength of the publications. Clinical care statements formed the basis of an international modified Delphi consensus determination process using the virtual meeting (Within3) online platform which requested experts to agree or disagree with any changes. Statements reaching the consensus mark became the guiding statements within this manuscript, which were subsequently assessed against the Appraisal of Guidelines for Research and Evaluation (AGREEII) criteria.Results: Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statements, Diagnostics, Clinical Recommendations and Management, Assessments, Interventions and Treatment, Additional Care Considerations, Social Care Considerations, Pain Management, Epilepsy / Seizures, Nutritional Care Interventions, Respiratory Health, Sleep and Rest, and End of Life Care. Consensus was reached after a single round of voting, with one exception which was revised, and agreed by 100% of the SC and achieved 80% consensus in the second voting round. The overall AGREE II assessment score obtained for the development of the guidelines was 5.7 (where 1 represents the lowest quality, and 7 represents the highest quality). Conclusion: This program provides robust evidence- and consensus-driven guidelines that can be used by all healthcare professionals involved in the management of patients with CLN2 disease. This addresses the clinical need to complement other information available.

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confidence: 99%

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confidence: 99%

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

Mole

Schulz

Badoe

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Mole

Schulz

Badoe

et al. 2021

Orphanet J Rare Dis

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Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition. Methods An expert mapping tool process was developed ranking multidisciplinary professionals, with knowledge of CLN2 disease, diagnostic or management experience of CLN2 disease, or family support professionals. Individuals were sequentially approached to identify two chairs, ensuring that the process was transparent and unbiased. A systematic literature review of published evidence using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidance was independently and simultaneously conducted to develop key statements based upon the strength of the publications. Clinical care statements formed the basis of an international modified Delphi consensus determination process using the virtual meeting (Within3) online platform which requested experts to agree or disagree with any changes. Statements reaching the consensus mark became the guiding statements within this manuscript, which were subsequently assessed against the Appraisal of Guidelines for Research and Evaluation (AGREEII) criteria. Results Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statements, Diagnostics, Clinical Recommendations and Management, Assessments, Interventions and Treatment, Additional Care Considerations, Social Care Considerations, Pain Management, Epilepsy / Seizures, Nutritional Care Interventions, Respiratory Health, Sleep and Rest, and End of Life Care. Consensus was reached after a single round of voting, with one exception which was revised, and agreed by 100% of the SC and achieved 80% consensus in the second voting round. The overall AGREE II assessment score obtained for the development of the guidelines was 5.7 (where 1 represents the lowest quality, and 7 represents the highest quality). Conclusion This program provides robust evidence- and consensus-driven guidelines that can be used by all healthcare professionals involved in the management of patients with CLN2 disease and other neurodegenerative disorders. This addresses the clinical need to complement other information available.

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The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders

Cited by 2 publications

References 6 publications

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

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