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Last update 08 May 2025

Heavy Chain Disease

Last update 08 May 2025

Basic Info

Synonyms

BALLARD DISEASE, FRANKLIN DISEASE, Franklin

+ [54]

Introduction

A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.

Clinical Trials associated with Heavy Chain Disease

NCT06462352

/ RecruitingNot ApplicableIIT

Multicenter Study Comparing the Artificial Intelligence-Based Navicam Endoscopic Capsule With the Conventional Pillcam Endoscopic Capsule in Small Bowel Pathology

Since its introduction in 2001, small bowel capsule endoscopy has been pivotal in diagnosing small bowel pathology due to its minimally invasive nature and high diagnostic accuracy. However, the technology has limitations, including prolonged reading times and the need for specialized endoscopists. The Navicam endoscopic capsule, leveraging artificial intelligence (AI) with ProScan™ for automated reading, promises to address these limitations by reducing reading times and enhancing diagnostic efficiency.
This study aims to assess the diagnostic concordance and to compare the efficiency of the AI-based Navicam capsule with the conventional Pillcam SB3 in the exploration of the small bowel.

Start Date27 May 2024

Sponsor / Collaborator

Hospital Clínic de Barcelona

NCT05450393

/ WithdrawnNot Applicable

Prospective Collection of PillCamTM SB3 Capsule Endoscopy and Device-Assisted Enteroscopy Procedures Data for Development of an Artificial Intelligence Software System to Apply to Endoscopy Procedures (GPS Study)

A prospective, multicenter, post-market, minimal risk, observational study designed to collect PillCamTM SB3 capsule endoscopy (CE) procedures and subsequent device-assisted enteroscopy (DAE) procedures data (double balloon enteroscopy (DBE), single balloon enteroscopy (SBE) and spiral enteroscopy (SE)) in medical centers in the United States (US).

Start Date01 May 2024

Sponsor / Collaborator-

NCT05470946

/ Unknown statusNot ApplicableIIT

Evaluation of the Diagnostic Role of Enteroscopy in Small Intestinal Diseases at Al-Rajhi University Hospital

To identify the role of enteroscopy in diagnosis and treatment of small intestinal diseases.

Start Date01 Aug 2022

Sponsor / Collaborator

Assiut University

100 Clinical Results associated with Heavy Chain Disease

100 Translational Medicine associated with Heavy Chain Disease

0 Patents (Medical) associated with Heavy Chain Disease

955

Literatures (Medical) associated with Heavy Chain Disease

01 Apr 2025·Veterinary Clinics of North America: Equine Practice

Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders

Review

Author: Valberg, Stephanie J ; Durward-Akhurst, Sian A

Several inflammatory myopathies have an infectious or immune-mediated basis in the horse. Myosin heavy chain myopathy is caused by a codominant missense variant in MYH1 and has 3 clinical presentations: immune-mediated myositis, calciphylaxis, and nonexertional rhabdomyolysis in Quarter Horse-related breeds. An infarctive form of purpura hemorrhagica affects numerous breeds, presenting with focal firm, painful muscle swelling, and subsequent infarction of multiple tissues. While Streptococcus equi equi is often the inciting cause, anaplasmosis, sarcocystis, piroplasmosis, viruses, and vaccines can also be inciting agents. This article describes the diagnosis, pathophysiology, and treatment of these inflammatory myopathies.

01 Apr 2025·Veterinary Clinics of North America: Equine Practice

Genetics of Muscle Disease

Review

Author: Finno, Carrie J

In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy. These diseases should be tested for in the appropriate breeds with clinical signs of disease or as part of breeding management. Genetic testing in veterinary medicine is not regulated, and therefore, any new genetic test offered in horses should be carefully evaluated and confirmed to be a valid test before use.

01 Mar 2025·Journal of Dairy Science

Inheritance of BLIRD disorder affects Holstein production performance and longevity

Article

Author: Null, D J ; VanRaden, P M ; Nicolazzi, E L ; Al-Khudhair, A

Improved methods previously developed for tracking new mutations within existing haplotypes for cholesterol deficiency (HCD) and muscle weakness (HMW) now also were applied to track the bovine lymphocyte intestinal retention defect (BLIRD) discovered in France. Gene tests were available in US data for HCD and HMW but not yet for BLIRD. Haplotype status for 3 million genotyped animals that also had US phenotypes were used to compare recessive effects of BLIRD homozygotes with French estimates. Heifer livability was 97.6% for normal calves with no copies of the haplotype (code 0) but averaged 88.8% for 178 homozygotes (code 2) and 94.1% for 2,029 uncertain homozygotes (code 4) with corresponding estimates of -8.6% and -3.3% from an animal model. Haplotype carriers verified by pedigree (code 1) or uncertain carriers (code 3) were not affected. Yield trait effects for 412 code 2 homozygotes were -1,799 kg milk, -63 kg fat, and -55 kg protein with a cost of -$1,206 using lifetime net merit values; other traits not yet studied may increase that cost. Mating a BLIRD carrier randomly to a population with 8.9% allele frequency would cause an economic loss of $1,653 * 0.089 / 2 = $74 because half of the progeny would inherit the carrier's normal allele. Those losses should already be reflected in evaluations which average the merit across normal, carrier, and homozygous daughters. Genomic predictions do not fully track those losses because new mutations are poorly correlated with nearby markers. However, US adjustments for future inbreeding automatically reduce evaluations of popular ancestors by more than the cost of these individual defects. Gene tests are needed for new mutations within common haplotypes because tracking can be difficult even with accurate pedigrees.

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Heavy Chain Disease

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