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8. Biallelic PI4KA variants cause neurological, intestinal and immunological disease

Author

Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, and Baple, Emma L

Subjects
Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal and immunological (TTC7A) conditions. Here we show that biallelic PI4KA sequence alterations in humans are associated with neurological disease, in particular hypomyelinating leukodystrophy. In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency. Our cellular, biochemical and structural modelling studies indicate that PI4KA-associated phenotypical outcomes probably stem from impairment of PI4KIIIα-TTC7-FAM126's organ-specific functions, due to defective catalytic activity or altered intra-complex functional interactions. Together, these data define PI4KA gene alteration as a cause of a variable phenotypical spectrum and provide fundamental new insight into the combinatorial biology of the PI4KIIIα-FAM126-TTC7-EFR3 molecular complex.

Published
2021

10. Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

Author

Schoenmakers, Daphne H., Leferink, Prisca S., Vanderver, Adeline, Bonkowsky, Joshua L., Krägeloh-Mann, Ingeborg, Bernard, Geneviève, Bertini, Enrico, Fatemi, Ali, Fogel, Brent L., Wolf, Nicole I., Skwirut, Donna, Buck, Allyson, Holberg, Brett, Saunier-Vivar, Elise F., Rauner, Robert, Dekker, Hanka, van Bokhoven, Pieter, Stellingwerff, Menno D., Berkhof, Johannes, and van der Knaap, Marjo S.

Published
2023
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13. Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy

Author

Berdowski, Woutje M., van der Linde, Herma C., Breur, Marjolein, Oosterhof, Nynke, Beerepoot, Shanice, Sanderson, Leslie, Wijnands, Lieve I., de Jong, Patrick, Tsai-Meu-Chong, Elisa, de Valk, Walter, de Witte, Moniek, van IJcken, Wilfred F. J., Demmers, Jeroen, van der Knaap, Marjo S., Bugiani, Marianna, Wolf, Nicole I., and van Ham, Tjakko J.

Published
2022
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15. Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.

Author

Beerepoot, Shanice, Verbeke, Jonathan I. M. L., Plantinga, Maud, Nierkens, Stefan, Pouwels, Petra J. W., Wolf, Nicole I., Simons, Cas, and van der Knaap, Marjo S.

Abstract

We report three siblings homozygous for CSF1R variant c.1969 + 115_1969 + 116del to expand the phenotype of "brain abnormalities, neurodegeneration, and dysosteosclerosis" (BANDDOS) and discuss its link with "adult leukoencephalopathy with axonal spheroids and pigmented glia" (ALSP), caused by heterozygous CSF1R variants. We evaluated medical, radiological, and laboratory findings and reviewed the literature. Patients presented with developmental delay, therapy‐resistant epilepsy, dysmorphic features, and skeletal abnormalities. Secondary neurological decline occurred from 23 years in sibling one and from 20 years in sibling two. Brain imaging revealed multifocal white matter abnormalities and calcifications during initial disease in siblings two and three. Developmental brain anomalies, seen in all three, were most severe in sibling two. During neurological decline in siblings one and two, the leukoencephalopathy was progressive and had the MRI appearance of ALSP. Skeletal survey revealed osteosclerosis, most severe in sibling three. Blood markers, monocytes, dendritic cell subsets, and T‐cell proliferation capacity were normal. Literature review revealed variable initial disease and secondary neurological decline. BANDDOS presents with variable dysmorphic features, skeletal dysplasia, developmental delay, and epilepsy with on neuro‐imaging developmental brain anomalies, multifocal white matter abnormalities, and calcifications. Secondary neurological decline occurs with a progressive leukoencephalopathy, in line with early onset ALSP. Despite the role of CSF1R signaling in myeloid development, immune deficiency is absent. Phenotype varies within families; skeletal and neurological manifestations may be disparate. [ABSTRACT FROM AUTHOR]

Published
2024
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18. DTYMK is essential for genome integrity and neuronal survival

Author

Vanoevelen, Jo M., Bierau, Jörgen, Grashorn, Janine C., Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A., Wevers, Ron A., van der Knaap, Marjo S., Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O’Driscoll, Mark, Hellebrekers, Debby M. E. I., Rodenburg, Richard, Ferreira, Carlos R., Brunner, Han G., van den Wijngaard, Arthur, Abdel-Salam, Ghada M. H., Wang, Liya, and Stumpel, Constance T. R. M.

Published
2022
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19. Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

Author

Peragallo, Jason H, Keller, Stephanie, van der Knaap, Marjo S, Soares, Bruno P, and Shankar, Suma P

Subjects
Clinical Research, Eye Disease and Disorders of Vision, Brain Disorders, Genetics, Neurosciences, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Neurological, Alanine-tRNA Ligase, Child, Preschool, Genetic Testing, Humans, Leukoencephalopathies, Magnetic Resonance Imaging, Male, Mutation, Missense, Optic Atrophy, Phenotype, Retinal Diseases, Visual Acuity, Whole Exome Sequencing, Exome Sequencing, AARS2, leukodystrophy, optic atrophy, retinopathy, Opthalmology and Optometry, Ophthalmology & Optometry
Abstract

BackgroundOptic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene.Materials and methodsSingle observational case report with genetic testing, laboratory testing, neurologic and ophthalmic clinical examinations, and neuroimaging performed at a tertiary academic medical center.ResultsAn 18-month old Korean boy was noted to have a progressive decline in visual function. The physical exam revealed bilateral optic atrophy, peripheral retinal bone spicule pigmentation, and absent patellar reflexes. Electromyography was consistent with demyelinating polyneuropathy. Magnetic resonance imaging (MRI) of the brain and spine showed cerebellar and supratentorial white matter multifocal changes with areas of restricted diffusion, and dorsal column signal abnormalities. Whole exome sequencing revealed two missense variants in the AARS2 gene [c.1519G>C (p.V507L) and c.2165G>A (p.R722Q)], found to be in trans on parental testing.ConclusionsMissense variants in the AARS2 gene are the likely cause of the retinopathy and optic atrophy in this patient. This finding expands the phenotypic spectrum of the AARS2 gene.

Published
2018

20. Jacob Valk, MD, PhD

Author

van der Knaap, Marjo S., primary, Blaser, Susan, additional, van Zijl, Peter, additional, and Huisman, Thierry A.G.M., additional

Published
2024
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22. Expanded phenotype of AARS1-related white matter disease

Author

Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E.C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, and Husain, Ralf A.

Published
2021
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24. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Author

Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I, Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S, Liu, Judy, Padiath, Quasar, and Vanderver, Adeline

Subjects
Neurodegenerative, Brain Disorders, Genetics, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Atrophy, Basal Ganglia, Brain, Cataract, Cerebellum, Child, Child, Preschool, Female, HeLa Cells, Hereditary Central Nervous System Demyelinating Diseases, Humans, Leukodystrophy, Metachromatic, Magnetic Resonance Imaging, Male, Microtubules, Middle Aged, Mutation, Myelin Sheath, Neurons, Oligodendroglia, Phenotype, Tubulin, Young Adult, Hela Cells, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). Additionally, TUBB4A mutations are known to result in a broad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with spastic quadriplegia, and an infantile onset encephalopathy, suggesting multiple cell types may be involved. We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). We used a combination of histopathological, biochemical and cellular approaches to determine how these different mutations may have variable cellular effects in neurons and/or oligodendrocytes. Our results demonstrate that specific mutations lead to either purely neuronal, combined neuronal and oligodendrocytic or purely oligodendrocytic defects that closely match their respective clinical phenotypes. Thus, the DYT4 mutation that leads to phenotypes attributable to neuronal dysfunction results in altered neuronal morphology, but with unchanged tubulin quantity and polymerization, with normal oligodendrocyte morphology and myelin gene expression. Conversely, mutations associated with isolated hypomyelination (p.Val255Ile and p.Arg282Pro) and the severe combined phenotype (p.Asn414Lys) resulted in normal neuronal morphology but were associated with altered oligodendrocyte morphology, myelin gene expression, and microtubule dysfunction. The H-ABC mutation (p.Asp249Asn) that exhibits a combined neuronal and myelin phenotype had overlapping cellular defects involving both neuronal and oligodendrocyte cell types in vitro. Only mutations causing hypomyelination phenotypes showed altered microtubule dynamics and acted through a dominant toxic gain of function mechanism. The DYT4 mutation had no impact on microtubule dynamics suggesting a distinct mechanism of action. In summary, the different clinical phenotypes associated with TUBB4A reflect the selective and specific cellular effects of the causative mutations. Cellular specificity of disease pathogenesis is relevant to developing targeted treatments for this disabling condition.

Published
2017

25. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Author

Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, and Thorburn, David R.

Published
2021
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26. Proteomic dissection of vanishing white matter pathogenesis

Author

Man, Jodie H.K., Zarekiani, Parand, Mosen, Peter, de Kok, Mike, Debets, Donna O., Breur, Marjolein, Altelaar, Maarten, van der Knaap, Marjo S., Bugiani, Marianna, Man, Jodie H.K., Zarekiani, Parand, Mosen, Peter, de Kok, Mike, Debets, Donna O., Breur, Marjolein, Altelaar, Maarten, van der Knaap, Marjo S., and Bugiani, Marianna

Abstract

Vanishing white matter (VWM) is a leukodystrophy caused by biallelic pathogenic variants in eukaryotic translation initiation factor 2B. To date, it remains unclear which factors contribute to VWM pathogenesis. Here, we investigated the basis of VWM pathogenesis using the 2b5ho mouse model. We first mapped the temporal proteome in the cerebellum, corpus callosum, cortex, and brainstem of 2b5ho and wild-type (WT) mice. Protein changes observed in 2b5ho mice were then cross-referenced with published proteomic datasets from VWM patient brain tissue to define alterations relevant to the human disease. By comparing 2b5ho mice with their region- and age-matched WT counterparts, we showed that the proteome in the cerebellum and cortex of 2b5ho mice was already dysregulated prior to pathology development, whereas proteome changes in the corpus callosum only occurred after pathology onset. Remarkably, protein changes in the brainstem were transient, indicating that a compensatory mechanism might occur in this region. Importantly, 2b5ho mouse brain proteome changes reflect features well-known in VWM. Comparison of the 2b5ho mouse and VWM patient brain proteomes revealed shared changes. These could represent changes that contribute to the disease or even drive its progression in patients. Taken together, we show that the 2b5ho mouse brain proteome is affected in a region- and time-dependent manner. We found that the 2b5ho mouse model partly replicates the human disease at the protein level, providing a resource to study aspects of VWM pathogenesis by highlighting alterations from early to late disease stages, and those that possibly drive disease progression.

Published
2024

27. Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series

Author

CTI Nierkens, Infection & Immunity, Child Health, Regenerative Medicine and Stem Cells, CTI De Witte, MS Hematologie, Cancer, CTI Research, Neurologen, Brain, Beerepoot, Shanice, Boelens, Jaap Jan, Lindemans, Caroline, de Witte, Moniek A, Nierkens, Stefan, Vrancken, Alexander F J E, van der Knaap, Marjo S, Bugiani, Marianna, Wolf, Nicole I, CTI Nierkens, Infection & Immunity, Child Health, Regenerative Medicine and Stem Cells, CTI De Witte, MS Hematologie, Cancer, CTI Research, Neurologen, Brain, Beerepoot, Shanice, Boelens, Jaap Jan, Lindemans, Caroline, de Witte, Moniek A, Nierkens, Stefan, Vrancken, Alexander F J E, van der Knaap, Marjo S, Bugiani, Marianna, and Wolf, Nicole I

Published
2024

28. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases

Author

Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, Wolf, Nicole I, Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, and Wolf, Nicole I

Abstract

Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent fin

Published
2024

30. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy

Author

CTI Nierkens, Infection & Immunity, Metabole ziekten patientenzorg, Child Health, Al-Saady, Murtadha L., Galabova, Hristina, Schoenmakers, Daphne H., Beerepoot, Shanice, Lindemans, Caroline, van Hasselt, Peter M., van der Knaap, Marjo S., Wolf, Nicole I., Pouwels, Petra J.W., CTI Nierkens, Infection & Immunity, Metabole ziekten patientenzorg, Child Health, Al-Saady, Murtadha L., Galabova, Hristina, Schoenmakers, Daphne H., Beerepoot, Shanice, Lindemans, Caroline, van Hasselt, Peter M., van der Knaap, Marjo S., Wolf, Nicole I., and Pouwels, Petra J.W.

Published
2024

31. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases:Focus on Neurogenetic Diseases

Author

Schoenmakers, Daphne H., Van Den Berg, Sibren, Timmers, Lonneke, Adang, Laura A., Bäumer, Tobias, Bosch, Annet, Van De Casteele, Marc, Datema, Mareen R., Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H.E., Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U., Van Den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J., Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, Van Der Knaap, Marjo S., Papadopoulou, Andri, Plueschke, Kelly, Van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F., Dos Santos Vieira, Bruna, Hollak, Carla E.M., Goettsch, Wim G., Wolf, Nicole I., Schoenmakers, Daphne H., Van Den Berg, Sibren, Timmers, Lonneke, Adang, Laura A., Bäumer, Tobias, Bosch, Annet, Van De Casteele, Marc, Datema, Mareen R., Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H.E., Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U., Van Den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J., Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, Van Der Knaap, Marjo S., Papadopoulou, Andri, Plueschke, Kelly, Van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F., Dos Santos Vieira, Bruna, Hollak, Carla E.M., Goettsch, Wim G., and Wolf, Nicole I.

Abstract

Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent fin

Published
2024

32. Region-specific and age-related differences in astrocytes in the human brain

Author

Afd Biomol.Mass Spect. and Proteomics, Biomolecular Mass Spectrometry and Proteomics, Man, Jodie H.K., Breur, Marjolein, van Gelder, Charlotte A.G.H., Marcon, Gabriella, Maderna, Emanuela, Giaccone, Giorgio, Altelaar, Maarten, van der Knaap, Marjo S., Bugiani, Marianna, Afd Biomol.Mass Spect. and Proteomics, Biomolecular Mass Spectrometry and Proteomics, Man, Jodie H.K., Breur, Marjolein, van Gelder, Charlotte A.G.H., Marcon, Gabriella, Maderna, Emanuela, Giaccone, Giorgio, Altelaar, Maarten, van der Knaap, Marjo S., and Bugiani, Marianna

Published
2024

33. Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy.

Author

Al‐Saady, Murtadha L., Galabova, Hristina, Schoenmakers, Daphne H., Beerepoot, Shanice, Lindemans, Caroline, van Hasselt, Peter M., van der Knaap, Marjo S., Wolf, Nicole I., and Pouwels, Petra J. W.

Abstract

Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disorder characterized by arylsulfatase A (ASA) deficiency, leading to sulfatide accumulation and myelin degeneration in the central nervous system. While primarily considered a white matter (WM) disease, gray matter (GM) is also affected in MLD, and hematopoietic stem cell transplantation (HSCT) may have limited effect on GM atrophy. We cross‐sectionally and longitudinally studied GM volumes using volumetric MRI in a cohort of 36 (late‐infantile, juvenile and adult type) MLD patients containing untreated and HSCT treated subjects. Cerebrum, cortical GM, (total) CSF, cerebellum, deep gray matter (DGM) (excluding thalamus) and thalamus volumes were analyzed. Longitudinal correlations with measures of cognitive and motor functioning were assessed. Cross‐sectionally, juvenile and adult type patients (infantiles excluded based on limited numbers) were compared with controls at earliest scan, before possible treatment. Patients had lower cerebrum, cortical GM, DGM and thalamus volumes. Differences were most pronounced for adult type patients. Longitudinal analyses showed substantial and progressive atrophy of all regions and increase of CSF in untreated patients. Similar, albeit less pronounced, effects were seen in treated patients for cerebrum, cortical GM, CSF and thalamus volumes. Deterioration in motor performance (all patients) was related to atrophy, and increase of CSF, in all regions. Cognitive functioning (data available for treated patients) was related to cerebral, cortical GM and thalamus atrophy; and to CSF increase. Our findings illustrate the importance of recognizing GM pathology as a potentially substantial, clinically relevant part of MLD, apparently less amenable to treatment. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, and Visser, W Edward

Published
2020
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35. Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy

Author

Bergner, Caroline G, primary, Breur, Marjolein, additional, Soto-Bernardini, M Clara, additional, Schäfer, Lisa, additional, Lier, Julia, additional, Le Duc, Diana, additional, Bundalian, Linnaeus, additional, Schubert, Susanna, additional, Brenner, David, additional, Kreuz, Friedmar R, additional, Schulte, Björn, additional, Waisfisz, Quinten, additional, Bugiani, Marianna, additional, Köhler, Wolfgang, additional, Sticht, Heinrich, additional, Abou Jamra, Rami, additional, and van der Knaap, Marjo S, additional

Published
2024
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