Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes
Abstract Background The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Building off of jointly developed...
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| Format: | Article |
| Language: | English |
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BMC
2025-08-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03632-4 |
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| author | Laura E. MacMullen Elizabeth Reynolds Marissa Weis Ibrahim George-Sankoh Sara Nguyen Katelynn D. Stanley Mariya Redko Maria Poblete Amy C. Goldstein Rebecca D. Ganetzky |
| author_facet | Laura E. MacMullen Elizabeth Reynolds Marissa Weis Ibrahim George-Sankoh Sara Nguyen Katelynn D. Stanley Mariya Redko Maria Poblete Amy C. Goldstein Rebecca D. Ganetzky |
| author_sort | Laura E. MacMullen |
| collection | DOAJ |
| description | Abstract Background The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Building off of jointly developed research infrastructures, including a patient registry and natural history study, advocates and clinicians cohosted the SLSMDS Family and Scientific Conference, enabling the collection of patient data from an ultra-rare and geographically dispersed patient population. Here we describe the data collection procedures for single-time point laboratory assessments and patient reported outcomes for a subset of individuals with SLSMDS. Results Utilizing a reproducible model of rare disease data collection, we expand our understanding of the common psychiatric manifestations, describe variability in terms of self-care and quality of life, and emphasize potential biomarkers for individuals with SLSMDS. Conclusion Our study describes how efficient patient-researcher partnerships can develop and sustain novel mechanisms to collect rare disease data, improve our understanding of the natural history of these disorders, and support development of future treatments. |
| format | Article |
| id | doaj-art-56fe13b9a8454b9e8a14cfc3dc4e5d7d |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-56fe13b9a8454b9e8a14cfc3dc4e5d7d2025-08-20T04:02:41ZengBMCOrphanet Journal of Rare Diseases1750-11722025-08-0120111210.1186/s13023-025-03632-4Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomesLaura E. MacMullen0Elizabeth Reynolds1Marissa Weis2Ibrahim George-Sankoh3Sara Nguyen4Katelynn D. Stanley5Mariya Redko6Maria Poblete7Amy C. Goldstein8Rebecca D. Ganetzky9Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaThe Champ FoundationMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of PhiladelphiaAbstract Background The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Building off of jointly developed research infrastructures, including a patient registry and natural history study, advocates and clinicians cohosted the SLSMDS Family and Scientific Conference, enabling the collection of patient data from an ultra-rare and geographically dispersed patient population. Here we describe the data collection procedures for single-time point laboratory assessments and patient reported outcomes for a subset of individuals with SLSMDS. Results Utilizing a reproducible model of rare disease data collection, we expand our understanding of the common psychiatric manifestations, describe variability in terms of self-care and quality of life, and emphasize potential biomarkers for individuals with SLSMDS. Conclusion Our study describes how efficient patient-researcher partnerships can develop and sustain novel mechanisms to collect rare disease data, improve our understanding of the natural history of these disorders, and support development of future treatments.https://doi.org/10.1186/s13023-025-03632-4Kearns Sayre syndromePearson syndromeChronic progressive external ophthalmoplegiaSingle large‐scale mitochondrial deletion syndromesmtDNARare disease |
| spellingShingle | Laura E. MacMullen Elizabeth Reynolds Marissa Weis Ibrahim George-Sankoh Sara Nguyen Katelynn D. Stanley Mariya Redko Maria Poblete Amy C. Goldstein Rebecca D. Ganetzky Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes Orphanet Journal of Rare Diseases Kearns Sayre syndrome Pearson syndrome Chronic progressive external ophthalmoplegia Single large‐scale mitochondrial deletion syndromes mtDNA Rare disease |
| title | Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes |
| title_full | Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes |
| title_fullStr | Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes |
| title_full_unstemmed | Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes |
| title_short | Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes |
| title_sort | single large scale mitochondrial dna deletion syndromes scientific and family conference optimizes the collection of rare disease research outcomes |
| topic | Kearns Sayre syndrome Pearson syndrome Chronic progressive external ophthalmoplegia Single large‐scale mitochondrial deletion syndromes mtDNA Rare disease |
| url | https://doi.org/10.1186/s13023-025-03632-4 |
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