Genetic Disorders

ClinicalAugust 4, 2026

Study on Familial Platelet Disease with RUNX1 Variants Launched

A longitudinal study has been initiated to investigate familial platelet disease (FPD) associated with RUNX1 variants.

CompetitiveAugust 2, 2026

NIH Undiagnosed Diseases Network Aims to Enhance Diagnosis of Rare Conditions

The NIH Undiagnosed Diseases Network (UDN) is established to improve diagnosis and understanding of rare undiagnosed conditions.

ClinicalAugust 1, 2026

AAVrh10-PCCA Gene Therapy Trial for Propionic Acidemia Initiated

A clinical trial is underway to assess the safety and efficacy of AAVrh10-PCCA gene therapy for propionic acidemia.

ClinicalJuly 24, 2026

Genzyme Launches Global Registry for Pompe Disease to Enhance Patient Care and Research

Genzyme has initiated a global registry for Pompe disease to track disease progression and treatment outcomes.

ClinicalJuly 14, 2026

Phase 1/2 Trial of LY3884961 for Gaucher Disease Initiated by Prevail Therapeutics

Prevail Therapeutics has launched Phase 1/2 clinical trial for LY3884961 in patients with peripheral manifestations of Gaucher Disease.

ClinicalJuly 8, 2026

Phase I/II Trial of JR-446 for MPS IIIB Initiated by JCR Pharmaceuticals

A Phase I/II trial of JR-446 is underway to evaluate its safety and early clinical effects in young patients with MPS IIIB.

ClinicalJune 30, 2026

Study on Nerve Function in PIEZO2 Deficiency Syndrome Launched

A clinical trial has been initiated to assess nerve function in individuals with PIEZO2 Deficiency Syndrome compared to healthy volunteers.

ClinicalJune 26, 2026

First-in-Human Trial of ACP-501 for Familial LCAT Deficiency Initiated

A clinical trial has been initiated to evaluate the safety and efficacy of ACP-501, a recombinant human LCAT, in a patient with familial LCAT deficiency.

ClinicalJune 25, 2026

Long-Read Sequencing to Enhance Neurogenetic Diagnoses in Neurological Conditions

A clinical trial is underway to evaluate long-read sequencing and optical genome mapping for detecting nucleotide repeat expansions in patients with undiagnosed neurological conditions.

ClinicalJune 23, 2026

Safety and Tolerability Study of NMN in DHDDS-CDG Patients Initiated

A clinical trial has been initiated to assess the safety and tolerability of NMN in patients with DHDDS-CDG.

ClinicalJune 20, 2026

Study on Genetic Disorders of the Immune System Launched by NIAID

NIAID is conducting a study to evaluate individuals with specific immune system disorders, involving extensive genetic and medical assessments.

ClinicalJune 19, 2026

Study on Spermatic Abnormalities in Fabry Disease Patients

A study is underway to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.

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