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Last update 08 May 2025

Hypobetalipoproteinemias

Last update 08 May 2025

Basic Info

Synonyms

Familial Hypobetalipoproteinemia, Hypo beta Lipoproteinemia, Hypo beta Lipoproteinemias

+ [15]

Introduction

Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.

Drugs associated with Hypobetalipoproteinemias

Lepodisiran sodium

Target

Lp(a)

Mechanism

lipoprotein(a) inhibitors [+1]

Active Org.

Eli Lilly & Co.

Originator Org.

Dicerna Pharmaceuticals, Inc.

Active Indication

Peripheral Arterial Disease [+3]

Inactive Indication-

Drug Highest PhasePhase 3

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Muvalaplin

Target

Lp(a)

Mechanism

lipoprotein(a) inhibitors

Active Org.

Eli Lilly & Co. [+1]

Originator Org.

Eli Lilly & Co.

Active Indication

Atherosclerosis [+5]

Inactive Indication-

Drug Highest PhasePhase 2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

US20220267337

Patent Mining

Target

PKM2 x PKR

Mechanism-

Active Org.

Global Blood Therapeutics, Inc.

Originator Org.

Global Blood Therapeutics, Inc.

Active Indication

Abetalipoproteinemia [+3]

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Hypobetalipoproteinemias

NCT05563246

/ CompletedPhase 2

KRAKEN: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of Oral Once-Daily LY3473329 in Adults With Elevated Lipoprotein(a) at High Risk for Cardiovascular Events

The main purpose of this study is to evaluate the efficacy and safety of LY3473329 in adult participants with elevated Lp(a) at high risk for cardiovascular events.

Start Date24 Nov 2022

Sponsor / Collaborator

Eli Lilly & Co.

NCT05565742

/ CompletedPhase 2

A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of LY3819469 in Adults With Elevated Lipoprotein(a)

The main purpose of this study is to determine the efficacy and safety of LY3819469 in adults with elevated lipoprotein(a). The study will lasts about 20 months.

Start Date20 Oct 2022

Sponsor / Collaborator

Eli Lilly & Co.

NCT05569928

/ Not yet recruitingNot ApplicableIIT

In Vivo Metabolism of apoB-containing Lipoproteins in ANGPTL3 Deficient Subjects

Rationale. ANGPTL3 has been identified as important regulator of lipolysis as well as a determinant of plasma levels of apolipoprotein B-containing lipoproteins. However, the precise mechanisms by which ANGPTL3 influences the flux of apoB particles transiting from the VLDL into LDL density range or affect LDL synthesis by modulating chylomicron remnants removal are unclear. It has been reported that the genetically determined ANGPTL3 absence or deficit is linked to lower plasma levels of apoB-containing lipoproteins. Therefore, a way to address the action of ANGPTL3 is to evaluate the in vivo lipoprotein metabolism in subjects carrying genetic mutations lowering ANGPTL3 as compared to normal controls.
Overall goal. The aim of this proposal is to uncover the role of ANGPTL3 in chylomicron, VLDL and LDL metabolism in humans (with a particular focus on its impact on the VLDL to LDL conversion pathway) using well-established in vivo lipoprotein kinetic methodologies.
Target population. For the present study, we will recruit subjects carrying the loss-of function mutation S17X in ANGPTL3 gene. Of them, 4 will be homozygotes, showing undetectable plasma levels of ANGPTL3 and hypobetalipoproteinemia and 8 will be heterozygotes with low ANGPTL3 plasma levels (<150 ng/ml), low TG (<120mg/dl) and LDL-C <160 mg/dl. Gender, age and BMI matched controls (n= 8) with plasma TG<180 mg/dl and LDL-C <160 mg/dl, and no known factors perturbing lipid metabolism will also be recruited. Cases and controls will be recruited from the Campodimele population.
Methods. Subjects will receive a 500 mg injection of deuterated glycerol to assess triglyceride kinetics, and an injection of deuterated leucine (7 mg/kg body weight) to assess the kinetics of apoB100, apoB48, apoC-III, and apoE. To evaluate chylomicron metabolism, subjects will be served a standard fat rich meal that contain 927 kcal (59.5 % fat, 24.4 % carbohydrate and 15.5 % protein) 2 hrs after injection of isotopes. Blood samples will be taken at frequent time points for 8 hrs followed by further blood samples collected next morning (24 hours) and on days 2, 3 and 4 after tracer administration. Chylomicrons, VLDL1, VLDL2, IDL and LDL will be isolated in a well-established stepwise centrifugal procedure. The concentrations of lipids and apolipoproteins will be determined using immunoassay and mass spectrometry in whole plasma and in lipoprotein fractions at each time point in the metabolic protocol. Isotope enrichment in apoproteins and lipids (triglycerides) will be performed using GC/MS.
Assessment. The main kinetic parameters derived from multicompartmental models will be:
Production and fractional clearance rates for apoB48-containing particles in chylomicrons, VLDL1, VLDL2, and for apoB100-containing particles in VLDL1, VLDL2, IDL and LDL.
Lipolysis rates for TG in VLDL1 and VLDL2.
Rates of conversion of chylomicrons to VLDL1 and VLDL2, rates of conversion of VLDL1 to VLDL2 to IDL and to LDL.

Start Date30 Sep 2022

Sponsor / Collaborator

Sapienza University of Rome

[+3]

100 Clinical Results associated with Hypobetalipoproteinemias

100 Translational Medicine associated with Hypobetalipoproteinemias

0 Patents (Medical) associated with Hypobetalipoproteinemias

1,928

Literatures (Medical) associated with Hypobetalipoproteinemias

01 Jun 2025·Parkinsonism & Related Disorders

Two case reports of RAB39B deletion displaying highly variable parkinsonism

Letter

Author: Defebvre, Luc ; Wissocq, Anna ; Thobois, Stéphane ; Carey, Guillaume ; Dhaenens, Claire-Marie ; Huin, Vincent ; Jaulent, Paul ; Fabard, Manon ; Geoffre, Nicolas ; Bouquillon, Sonia ; Laurencin, Chloé

Waisman's syndrome is a rare genetic disease related to mutation in the RAB39B gene, on the X-chromosome, and characterized by intellectual disability and parkinsonism. First case is a male with hemizygous deletion, associated with severe symptoms and acanthocytosis, second case is a female with heterozygous deletion and skewed X-inactivation.

01 May 2025·Cellular Immunology

Immunology of familial chorea-acanthocytosis with presenting generalized tonic-clonic seizure: Blood cell study for early diagnosis and management

Article

Author: Omidvar, Narges ; Salem, Amineh

A male, who involved familial chorea-acanthocytosis (ChAc), was introduced to provide direction for early diagnosis and management. The admitted patient was found to have the significant episode with generalized tonic-clonic seizure, gradually progressive abnormal movements, and generalized weakness. According to the peripheral blood smears, the acanthocytosis was diagnosed primarily. The neuroimaging observation revealed atrophied head of caudate nuclei and dilation of anterior horn in the lateral ventricles. For the early diagnosis and prevention of syndrome complications, neuroacanthocytosis should be considered in the differential diagnosis of patients presenting with generalized tonic-clonic seizure, peripheral neuropathy, and behavioral disorder associated with movement complications.

01 Apr 2025·ChemistryOpen

Binding of Selected Ligands to Human Protein Disulfide Isomerase and Microsomal Triglyceride Transfer Protein Complex and the Associated Conformational Changes: A Computational Molecular Modelling Study

Article

Author: Zhu, Bao Ting ; Li, Peng ; Yang, Yong Xiao

AbstractHuman protein disulfide isomerase (PDI) is a multifunctional protein, and also serves as the β subunit of the human microsomal triglyceride transfer protein (MTP) complex, a lipid transfer machinery. Dysfunction of the MTP complex is associated with certain disease conditions such as abetalipoproteinemia and cardiovascular diseases. It is known that the functions of PDI or the MTP complex can be regulated by the binding of a small‐molecule ligand to either of these two proteins. In the present study, the conformational changes of the MTP complex upon the binding of three selected small‐molecule ligands (17β‐estradiol, lomitapide and a phospholipid) are investigated based on the available biochemical and structural information by using the protein–ligand docking method and molecular dynamics (MD) simulation. The ligand‐binding sites, the binding poses and binding strengths, the key binding site residues, and the ligand binding‐induced conformational changes in the MTP complex are analyzed based on the MD trajectories. The open‐to‐closed or closed‐to‐open transitions of PDI is found to occur in both reduced and oxidized states of PDI and also independent of the presence or absence of small‐molecule ligands. It is predicted that lomitapide and 1,2‐diacyl‐sn‐glycero‐3‐phosphocholine (a phospholipid) can bind inside the lipid‐binding pocket in the MTP complex with high affinities, whereas 17β‐estradiol interacts with the lipid‐binding pocket in addition to its binding to the interface region of the MTP complex. Additionally, lomitapide can bind to the b’ domain of PDI as reported earlier for E2. Key residues for the ligand‐binding interactions are identified in this study. It will be of interest to further explore whether the binding of small molecules can facilitate the conformational transitions of PDI in the future. The molecular and structural insights gained from the present work are of value for understanding some of the important biological functions of PDI and the MTP complex.

News (Medical) associated with Hypobetalipoproteinemias

24 Apr 2025

·www.prnewswire.com

Beacon Therapeutics Announces ARVO 2025 Presentation on Preliminary 6-Month Data from its Phase 2 DAWN Trial of laru-zova in Patients with X-linked Retinitis Pigmentosa (XLRP)

LONDON and CAMBRIDGE, Mass., April 24, 2025 /PRNewswire/ -- Beacon Therapeutics Holdings Limited ('Beacon Therapeutics' or 'the Company'), a leading clinical-stage biotechnology company with a mission to save and restore the vision of patients with blinding retinal diseases, today announces an upcoming presentation on 6-month interim safety and efficacy results from the Phase 2 DAWN trial of the Company's lead program, laru-zova (laruparetigene zovaparvovec), in patients with X-linked retinitis pigmentosa (XLRP) at the Association for Research in Vision and Ophthalmology (ARVO) 2025 Annual Meeting being held May 4-8, 2025 in Salt Lake City. Presentation details: Presentation t itle: Subretinal gene therapy laru-zova (AGTC-501) for X-linked retinitis pigmentosa (XLRP): Phase 2 DAWN preliminary month 6 results Session title: Clinical advances in cell and gene therapy Date: Tuesday, May 6, 2025 Presenter: Mark Pennesi, M.D., Ph.D., FARVO, Director, Ophthalmic Genetics at the Retina Foundation in Dallas, Texas; Professor of Ophthalmology and Professor of Molecular and Medical Genetics, and Chief of the Paul H. Casey Ophthalmic Genetics Division at the Casey Eye Institute, Oregon Health and Science University in Portland, Oregon Beacon Therapeutics is currently enrolling patients for its pivotal Phase 2/3 VISTA trial of laru-zova as it develops this potential treatment for patients with XLRP. About laru-zova Laru-zova (laruparetigene zovaparvovec) is a potential best-in-class gene therapy currently being investigated for the treatment of patients with X-linked retinitis pigmentosa (XLRP). Laru-zova has the potential to restore the natural function of both rods and cones in XLRP by delivering a functional copy of the RPGRORF15 gene designed to produce the full-length protein. Laru-zova has Regenerative Medicine Advanced Therapy (RMAT) and Fast Track designations from the U.S. Food and Drug Administration (FDA), Priority Medicines (PRIME) designation from the European Medicines Agency (EMA), Innovative Licensing and Access Pathway (ILAP) from the UK's Medicines and Healthcare products Regulatory Agency (MHRA), as well as Orphan Drug Designation (ODD) from the FDA and EMA. About the DAWN and VISTA Studies DAWN (NCT06275620) is a Phase 2, open-label study of laru-zova in the fellow eye of male participants with XLRP who have previously been treated with an AAV vector-based gene therapy delivering the full-length RPGR protein. The objective of DAWN is to assess two different dose levels of laru-zova for efficacy, safety and tolerability in the target population. DAWN is also evaluating the changes in visual function and functional vision, and is the first trial in the laru-zova clinical development program that is collecting and evaluating low luminance visual acuity (LLVA) data. VISTA (NCT04850118) is a Phase 2/3, randomized, controlled, masked, multi-center pivotal study evaluating the efficacy, safety and tolerability of laru-zova in two study groups compared to an untreated control group. The study will evaluate the proportion of participants with a 15 or more letter increase from baseline in LLVA and additional measures of functional vision. The VISTA study is currently enrolling. About XLRP X-linked retinitis pigmentosa (XLRP) is an inherited retinal disease that predominantly affects males, typically caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. The mutations, which affect approximately 1 in 25,000 males in the U.S., Europe and Australia, result in progressive photoreceptor loss over time and visual dysfunction beginning in childhood, eventually leading to blindness and impacting quality of life with no approved treatments. About Beacon Therapeutics Beacon Therapeutics is a clinical-stage biotechnology company with a mission to save and restore the vision of patients with blinding retinal diseases. The Company has an established scientific foundation that includes a late-stage clinical development candidate to treat XLRP and two preclinical programs targeting dry age-related macular degeneration (AMD) and an inherited cone-rod dystrophy (CRD). Beacon Therapeutics' investors include Syncona Limited, Forbion, Oxford Science Enterprises, TCGX and Advent Life Sciences, among others. Learn more about Beacon Therapeutics at beacontx.com. Contact: [email protected] Media: [email protected] SOURCE Beacon Therapeutics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

Phase 2Orphan DrugFast TrackGene Therapy

06 Dec 2024

·pipelinereview.com

Beacon Therapeutics Announces Positive 3-Month Data from Phase 2 DAWN Trial of laru-zova (AGTC-501) in Patients with X-Linked Retinitis Pigmentosa (XLRP)

LONDON, UK and CAMBRIDGE, MA, USA I December 6, 2024 I Beacon Therapeutics Holdings Limited (‘Beacon Therapeutics’ or ‘the Company’), a leading ophthalmic gene therapy company with a purpose to save and restore the vision of patients with blinding retinal diseases, today announced the presentation of 3-month interim safety and efficacy results of the Phase 2 DAWN trial in patients with XLRP at the FLORetina-ICOOR Meeting 2024 in Florence, Italy. Key presentation highlights: DAWN is a non-randomized, open-label study of laru-zova in participants with XLRP who have previously been treated with a full-length AAV-vector based gene therapy targeting the RPGR protein. The purpose of DAWN is to assess two different doses of laru-zova for efficacy, safety and tolerability in the untreated eye of participants who previously received gene therapy for XLRP. XLRP is a severe, aggressive, inherited retinal disease that often leads to blindness by middle age, with no treatment options available. XLRP primarily affects young males with an estimated prevalence of 1 in 25,000 males in the US, Europe and Australia having XLRP with RPGR mutations. Laru-zova expresses the full length RPGR protein and is therefore expected to address the entirety of photoreceptor damage caused by XLRP, including both rod and cone loss, representing a potential best-in-class treatment for progressive vision loss in patients with XLRP. Lance Baldo, MD, chief executive officer of Beacon Therapeutics, stated, “We are encouraged by the early results from the Phase 2 DAWN study. The strong safety profile observed to date is complemented by promising early improvements in low luminance visual acuity – a meaningful and functional measure of vision in patients with XLRP. These data not only support the ongoing pivotal VISTA study, but also strengthen our commitment to this opportunity to bring hope to patients and families affected by this devastating disease.” Beacon Therapeutics is also enrolling patients for its pivotal Phase 2/3 VISTA trial of laru-zova as it develops this potential treatment for patients with XLRP. Presentations – Presenting Author – Professor Paulo Eduardo Stanga, Founder and Chief Medical Officer, The Retina Clinic London About Beacon Therapeutics Beacon Therapeutics is an ophthalmic gene therapy company founded in 2023 to save and restore the vision of patients with a range of prevalent and rare retinal diseases that result in blindness. The Company has an established scientific foundation that combines a late-stage development candidate to treat X-linked retinitis pigmentosa (XLRP) and two preclinical programs, one targeting dry age-related macular degeneration (AMD) and another targeting an inherited cone-rod dystrophy (CRD). Beacon Therapeutics also has access to a target generation technology platform that will identify, screen, and search secreted proteins in the ophthalmology space. Lead development candidate laru-zova (AGTC-501), is a gene therapy program currently being investigated for the treatment of XLRP, an inherited monogenic recessive disorder that causes progressive vision loss, primarily in boys and young men. XLRP is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Laru-zova expresses the full length RPGR protein, thereby addressing the full complement of photoreceptor damage caused by XLRP, including both rod and cone loss. Beacon is supported by funds from Syncona Limited, Forbion, Oxford Science Enterprises, TCGX, Advent Life Sciences and additional investors. Find out more about Beacon Therapeutics at beacontx.com . SOURCE: Beacon Therapeutics

Phase 2Gene TherapyClinical Result

06 Dec 2024

·www.prnewswire.com

Beacon Therapeutics Announces Positive 3-Month Data from Phase 2 DAWN Trial of laru-zova (AGTC-501) in Patients with X-Linked Retinitis Pigmentosa (XLRP)

To date, laru-zova has been well-tolerated by all participants in the Phase 2 DAWN study. Data show promising early improvements in low luminance visual acuity (LLVA), a critical measure of visual function. Data build confidence in laru-zova as a potential treatment for patients with XLRP. Pivotal Phase 2/3 VISTA trial for laru-zova in XLRP is currently enrolling. LONDON and CAMBRIDGE, Mass., Dec. 6, 2024 /PRNewswire/ -- Beacon Therapeutics Holdings Limited ('Beacon Therapeutics' or 'the Company'), a leading ophthalmic gene therapy company with a purpose to save and restore the vision of patients with blinding retinal diseases, today announced the presentation of 3-month interim safety and efficacy results of the Phase 2 DAWN trial in patients with XLRP at the FLORetina-ICOOR Meeting 2024 in Florence, Italy. Key presentation highlights: The three-month data show that laru-zova has been well-tolerated by all participants. No study agent-related treatment emergent adverse events (TEAEs) were reported, including no ocular inflammatory adverse events. Data also show promising early improvements in LLVA, a critical measure of visual function. The benefit-risk profile supports on-going clinical development for the treatment of patients with XLRP caused by RPGR mutations. DAWN is a non-randomized, open-label study of laru-zova in participants with XLRP who have previously been treated with a full-length AAV-vector based gene therapy targeting the RPGR protein. The purpose of DAWN is to assess two different doses of laru-zova for efficacy, safety and tolerability in the untreated eye of participants who previously received gene therapy for XLRP. XLRP is a severe, aggressive, inherited retinal disease that often leads to blindness by middle age, with no treatment options available. XLRP primarily affects young males with an estimated prevalence of 1 in 25,000 males in the US, Europe and Australia having XLRP with RPGR mutations. Laru-zova expresses the full length RPGR protein and is therefore expected to address the entirety of photoreceptor damage caused by XLRP, including both rod and cone loss, representing a potential best-in-class treatment for progressive vision loss in patients with XLRP. Lance Baldo, MD, chief executive officer of Beacon Therapeutics, stated, "We are encouraged by the early results from the Phase 2 DAWN study. The strong safety profile observed to date is complemented by promising early improvements in low luminance visual acuity - a meaningful and functional measure of vision in patients with XLRP. These data not only support the ongoing pivotal VISTA study, but also strengthen our commitment to this opportunity to bring hope to patients and families affected by this devastating disease." Beacon Therapeutics is also enrolling patients for its pivotal Phase 2/3 VISTA trial of laru-zova as it develops this potential treatment for patients with XLRP. Presentations – Subretinal Gene Therapy laru-zova (AGTC-501) for X-Linked Retinitis Pigmentosa (XLRP) Phase 2 Multicenter Study (DAWN): Preliminary Results RPGR gene therapy and the Beacon clinical trials: Beacon Therapeutics Subretinal Gene Therapy laru-zova (AGTC-501) for X-Linked Retinitis Pigmentosa (XLRP) Presenting Author – Professor Paulo Eduardo Stanga, Founder and Chief Medical Officer, The Retina Clinic London Contact: [email protected] Media: [email protected] About Beacon Therapeutics Beacon Therapeutics is an ophthalmic gene therapy company founded in 2023 to save and restore the vision of patients with a range of prevalent and rare retinal diseases that result in blindness. The Company has an established scientific foundation that combines a late-stage development candidate to treat X-linked retinitis pigmentosa (XLRP) and two preclinical programs, one targeting dry age-related macular degeneration (AMD) and another targeting an inherited cone-rod dystrophy (CRD). Beacon Therapeutics also has access to a target generation technology platform that will identify, screen, and search secreted proteins in the ophthalmology space. Lead development candidate laru-zova (AGTC-501), is a gene therapy program currently being investigated for the treatment of XLRP, an inherited monogenic recessive disorder that causes progressive vision loss, primarily in boys and young men. XLRP is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Laru-zova expresses the full length RPGR protein, thereby addressing the full complement of photoreceptor damage caused by XLRP, including both rod and cone loss. Beacon is supported by funds from Syncona Limited, Forbion, Oxford Science Enterprises, TCGX, Advent Life Sciences and additional investors. Find out more about Beacon Therapeutics at beacontx.com. SOURCE Beacon Therapeutics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

Phase 2Gene TherapyClinical Result

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