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Edition of 21 September 2022

New Syndromes

FRA10AC1 mutations cause a neurodevelopmental disorder with growth retardation

A new study published in The Brain identified bi-allelic variants in the gene coding for FRA10AC1 (a peripheral protein of the spliceosomal C complex), within five individuals (from three consanguineous families) who express microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism. Various analyses (chemical anatomo-pathology, co-immunoprecipitation, in vitro splicing reporter assay) showed the importance of specific peripheral spliceosomal C complex proteins for neurodevelopment. It remains possible that FRA10AC1 may have other and/or additional cellular functions, such as coupling of transcription and splicing reactions.

Brain . 2022 May 24;145(4):1551-1563

Triplication Syndrome: a New Recognizable Genomic Disorder Characterized By Optical Genome Mapping

A new study published in the European Journal of Human Genetics identified a de novo 16p13.11p11.2 triplication associated with a 16p11.2 duplication, within two unrelated patients. It characterized a new clinically recognizable genomic disorder including hypotonia, severe neurodevelopmental delay with profound speech impairment, hyperkinetic behavior, conductive hearing loss, and distinctive facial features. Chromosomal microarray analysis (CMA) and whole genome sequencing (WGS) technology are completed by optical genome mapping (OGM), to determine the relative orientation of the triplicated and duplicated segments, as well as the genomic positions of the breakpoints.

Eur J Hum Genet . 2022 Jun;30(6):712-720

Clinical Research

Lombardy diagnostic and therapeutic network of thrombotic microangiopathy

To read more about “Thrombotic microangiopathy”

Orphanet J Rare Dis . 2022 Jun 23;17(1):246

Efficacy and safety of CD19-specific CAR T-cell-based therapy in B-cell acute lymphoblastic leukemia patients with CNSL

To read more about “Precursor B-cell acute lymphoblastic leukemia”

Blood . 2022 Jun 9;139(23):3376-3386

EZH2 inhibitor tazemetostat in patients with relapsed or refractory, BAP1-inactivated malignant pleural mesothelioma: a multicentre, open-label, phase 2 study

To read more about “Pleural mesothelioma”

Lancet Oncol . 2022 Jun;23(6):758-767

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

To read more about “Charcot-Marie-Tooth disease type 1”
To read more about “X-linked Charcot-Marie-Tooth disease”

Neurology . 2022 May 11;98(23):e2356-e2367

Zanubrutinib in relapsed/refractory mantle cell lymphoma: long-term efficacy and safety results from a phase 2 study

To read more about “Mantle cell lymphoma”

Blood . 2022 May 26;139(21):3148-3158

Follow-up of patients with R/R FLT3- mutation-positive AML treated with gilteritinib in the phase 3 ADMIRAL trial

To read more about “Acute myeloid leukemia”

Blood . 2022 Jun 9;139(23):3366-3375

A study of Ruxolitinib-response-based stratified treatment for pediatric hemophagocytic lymphohistiocytosis

To read more about “Primary hemophagocytic lymphohistiocytosis”

Blood . 2022 Jun 16;139(24):3493-3504

Ibrutinib plus Bendamustine and Rituximab in Untreated Mantle-Cell Lymphoma

To read more about “Mantle cell lymphoma”

N Engl J Med . 2022 Jun 30;386(26):2482-2494

Cardiac involvement in MPS patients : incidence and response to therapy in an Italian multicentre study

To read more about “Mucopolysaccharidosis”

Orphanet J Rare Dis . 2022 Jun 29;17(1):251

Fixed-duration ibrutinib plus venetoclax for first-line treatment of CLL: primary analysis of the CAPTIVATE FD cohort

To read more about “B-cell chronic lymphocytic leukemia”

Blood . 2022 Jun 2;139(22):3278-3289

Therapeutic Approaches

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model

To read more about “Dravet syndrome”

Sci Transl Med . 2022 Apr 27;14(642):eabm5527

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

To read more about “Familial dysautonomia”

Hum Mol Genet . 2022 Jun 4;31(11):1776-1787

Modeling gain-of-function and loss-of-function components of SPAST -based hereditary spastic paraplegia using transgenic mice

To read more about “Hereditary spastic paraplegia”

Hum Mol Genet . 2022 Jun 4;31(11):1844-1859

Gene therapy restores mitochondrial function and protects retinal ganglion cells in optic neuropathy induced by a mito-targeted mutant ND1 gene

To read more about “Leber hereditary optic neuropathy”

Gene Ther . 2022 Jun;29(6):368-378

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis

To read more about “Cystinosis”

Orphanet J Rare Dis . 2022 Jun 16;17(1):231

Gene therapy targeting protein trafficking regulator MOG1 in mouse models of Brugada syndrome, arrhythmias, and mild cardiomyopathy

To read more about “Brugada syndrome”

Sci Transl Med . 2022 Jun 8;14(648):eabf3136

Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy

To read more about “STXBP1-related encephalopathy”

Mol Ther . 2022 Jun 1;30(6):2163-2175

Combination treatment with growth hormone and zoledronic acid in a mouse model of Osteogenesis imperfecta

To read more about “Osteogenesis imperfecta”

Bone . 2022 Jun;159:116378

Modeling gain-of-function and loss-of-function components of SPAST -based hereditary spastic paraplegia using transgenic mice

To read more about “Hereditary spastic paraplegia”

Hum Mol Genet . 2022 Jun 4;31(11):1844-1859

An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice

To read more about “Fibrodysplasia ossificans progressiva”

J Clin Invest . 2022 Jun 15;132(12):e153795

Biomarkers

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.

To read more about “Dravet syndrome”

Sci Transl Med . 2022 Apr 27;14(642):eabm5527

Patient Management and Therapy

eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study

To read more about “Achondroplasia”

Orphanet J Rare Dis . 2022 Jun 13;17(1):224

Revisiting anemia in sickle cell disease and finding the balance with therapeutic approaches

To read more about “Sickle cell anemia”

Blood . 2022 May 19;139(20):3030-3039

Pegcetacoplan for Paroxysmal Nocturnal Hemoglobinuria

N Engl J Med . 2021 Mar 18;384(11):1028-1037

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

To read more about “Mitochondrial disease”

Orphanet J Rare Dis . 2022 Jun 6;17(1):217

Recommendations

CLINICAL PRACTICE STATEMENT BY THE MSAG Guidelines Consensus clinical practice guidelines for the prevention of infection in patients with Multiple Myeloma

To read more about “Multiple myeloma”

CLINICAL PRACTICE STATEMENT BY THE MSAG Guidelines Consensus clinical practice guidelines for the treatment of patients with Waldenström Macroglobulinaemia

To read more about “Waldenström macroglobulinemia”

Recommendations for the diagnosis and management of childhood Prader ‑ Willi syndrome in China

To read more about “Prader-Willi syndrome”

Orphanet J Rare Dis . 2022 Jun 13;17(1):221

Quality of Life

Living with a Rare Disease as a Family: A Co-Constructed Autoethnography from a Mother

Disab. 2022, 2(2), 348-364

Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health

Am J Med Genet A . 2022 Jul;188(7):2096-2109

Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome

To read more about “Angelman syndrome”

Am J Med Genet A . 2022 Jul;188(7):2110-2118

Orphan drugs

See section « Political News »

Summary of the edition of 21 September 2022

Editorial
Political news
Scientific news
And also...

Edition of 21 September 2022

New Syndromes

FRA10AC1 mutations cause a neurodevelopmental disorder with growth retardation

Triplication Syndrome: a New Recognizable Genomic Disorder Characterized By Optical Genome Mapping

Clinical Research

Lombardy diagnostic and therapeutic network of thrombotic microangiopathy

Efficacy and safety of CD19-specific CAR T-cell-based therapy in B-cell acute lymphoblastic leukemia patients with CNSL

EZH2 inhibitor tazemetostat in patients with relapsed or refractory, BAP1-inactivated malignant pleural mesothelioma: a multicentre, open-label, phase 2 study

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Zanubrutinib in relapsed/refractory mantle cell lymphoma: long-term efficacy and safety results from a phase 2 study

Follow-up of patients with R/R FLT3- mutation-positive AML treated with gilteritinib in the phase 3 ADMIRAL trial

A study of Ruxolitinib-response-based stratified treatment for pediatric hemophagocytic lymphohistiocytosis

Ibrutinib plus Bendamustine and Rituximab in Untreated Mantle-Cell Lymphoma

Cardiac involvement in MPS patients : incidence and response to therapy in an Italian multicentre study

Fixed-duration ibrutinib plus venetoclax for first-line treatment of CLL: primary analysis of the CAPTIVATE FD cohort

Therapeutic Approaches

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

Modeling gain-of-function and loss-of-function components of SPAST -based hereditary spastic paraplegia using transgenic mice

Gene therapy restores mitochondrial function and protects retinal ganglion cells in optic neuropathy induced by a mito-targeted mutant ND1 gene

Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis

Gene therapy targeting protein trafficking regulator MOG1 in mouse models of Brugada syndrome, arrhythmias, and mild cardiomyopathy

Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy

Combination treatment with growth hormone and zoledronic acid in a mouse model of Osteogenesis imperfecta

Modeling gain-of-function and loss-of-function components of SPAST -based hereditary spastic paraplegia using transgenic mice

An anti-ACVR1 antibody exacerbates heterotopic ossification by fibro-adipogenic progenitors in fibrodysplasia ossificans progressiva mice

Biomarkers

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.

Patient Management and Therapy

eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study

Revisiting anemia in sickle cell disease and finding the balance with therapeutic approaches

Pegcetacoplan for Paroxysmal Nocturnal Hemoglobinuria

AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

Recommendations

CLINICAL PRACTICE STATEMENT BY THE MSAG Guidelines Consensus clinical practice guidelines for the prevention of infection in patients with Multiple Myeloma

CLINICAL PRACTICE STATEMENT BY THE MSAG Guidelines Consensus clinical practice guidelines for the treatment of patients with Waldenström Macroglobulinaemia

Recommendations for the diagnosis and management of childhood Prader ‑ Willi syndrome in China

Quality of Life

Living with a Rare Disease as a Family: A Co-Constructed Autoethnography from a Mother

Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health

Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome

Orphan drugs

See section « Political News »

Summary of the edition of 21 September 2022

Editorial

Political news

Scientific news

And also...