Clinical trials: Autosomal Recessive Disorder
Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive
EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety
This is a randomized, double-Blind, placebo-controlled study to evaluate the efficacy and safety of exaluren in Alport Syndrome patients with nonsense mutations in COL4A3/4/5 genes.
- Trial name
- NCT07523581
- Testing
- Exaluren
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 24 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Neutropenia
A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections
The purpose of this study is to demonstrate the efficacy and evaluate the safety and tolerability of mavorixafor in participants with congenital or acquired primary autoimmune and idiopathic chronic neutropenic disorders who are…
- Trial name
- NCT06056297
- Testing
- Mavorixafor
- Where
- 114 sites in United States, Argentina and 23 more
- Volunteers
- 176 people
- Sponsor
- X4 Pharmaceuticals
Stargardt Disease, Stargardt Macular Degeneration
Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE)
The purpose of this open-label, multicenter study is to determine the long-term safety, pharmacokinetics and effects of ALK-001 (C20-D3-retinyl acetate) on the progression of Stargardt disease.
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Trial name
- NCT04239625
- Testing
- ALK-001
- Where
- 8 sites in United States
- Volunteers
- 200 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
GJB2-mediated Hearing Loss, GJB2 Gene Mutation
Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in…
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Trial name
- SONIX (NCT07627971)
- Testing
- SKY-GJB2
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Skylark Bio Inc.
Parkinson Disease, Parkinson Disease 6, Early-Onset
A Study to Evaluate the Effects of ACI-7104.056 in Patients With Early Stages of Parkinson's Disease
The purpose of this study is to evaluate the safety, tolerability, immunogenicity, and pharmacodynamic effects of ACI-7104.056 in patients with early stages of Parkinson's disease.
- Trial name
- VacSYn (NCT06015841)
- Testing
- ACI-7104.056 at Dose A, ACI-7104.056 at Dose B (optional), ACI-7104.056 at Dose C (optional)
- Where
- 12 sites in Germany, Spain and 1 more
- Volunteers
- 150 people
- Sponsor
- AC Immune SA
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette…
- Trial name
- NCT06302439
- Testing
- No Intervention for this observational study
- Where
- 14 sites in United States, Canada and 7 more
- Volunteers
- 54 people
- Sponsor
- Inozyme Pharma
Canavan Disease
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
The main objective of this trial is to evaluate the safety, tolerability, and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric participants with Canavan disease.
- Trial name
- NCT04998396
- Testing
- AAV9 BBP-812
- Where
- 4 sites in United States
- Volunteers
- 26 people
- Sponsor
- Aspa Therapeutics
Chronic Granulomatous Disease, Granulomatous Disease, Chronic
A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
This is an open-label, single-arm, multicenter Phase 1/2 study evaluating the safety and efficacy of gene therapy by transplantation of Prime Edited autologous CD34+ stem cells modified ex vivo (PM359) in participants with…
- Trial name
- NCT06559176
- Testing
- PM359
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Prime Medicine, Inc.
Common Variable Immunodeficiency, X-linked Agammaglobulinemia
Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy
The objective of this study is to assess the efficacy, tolerability, safety and pharmacokinetics of IgPro20 in patients with primary humoral immunodeficiency (PID).
- Conditions
- Common Variable Immunodeficiency, X-linked Agammaglobulinemia, Autosomal Recessive Agammaglobulinemia
- Trial name
- NCT00542997
- Testing
- Human Normal Immunoglobulin for Subcutaneous Administration (IGSC)
- Where
- 19 sites in France, Germany and 7 more
- Volunteers
- 51 people
- Sponsor
- CSL Behring
Polycystic Kidney, Autosomal Recessive
A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
This study evaluates safety and tolerability of a single ascending dose of a tesevatinib liquid formulation administered to pediatric subjects with ARPKD.
- Trial name
- NCT03096080
- Testing
- Tesevatinib
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Kadmon Corporation, LLC
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
This study is an early-stage clinical trial (Phase 1b/2a) testing a gene therapy called OPGx-RDH12 for people with Leber Congenital Amaurosis (LCA) caused by mutations in the RDH12 gene, a rare genetic eye disease that leads to…
- Trial name
- RDH12 (NCT07681778)
- Testing
- OPGx-RDH12
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Opus Genetics, Inc
Otoferlin Gene-mediated Hearing Loss
Long Term Follow-up Study of AAVAnc80-hOTOF Gene Therapy
This multi-center, observational, post-intervention long term follow-up (LTFU) study will monitor for safety and efficacy of AAVAnc80-hOTOF in individuals with sensorineural hearing loss due to otoferlin gene mutations who have…
- Trial name
- NCT06696456
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 30 people
- Sponsor
- Akouos, Inc.
Gene Mutations, Pseudoxanthoma Elasticum
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to…
- Conditions
- Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- Trial name
- NCT06462547
- Testing
- INZ-701
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Inozyme Pharma
Myocardial Infarction
Study to Evaluate the Safety and Activity of BB3 to Treat Heart Attack
The study will evaluate the effect of BB3 to preserve myocardial (heart) tissue and function following myocardial infarction (heart attack).
- Trial name
- NCT01539590
- Testing
- BB3, Normal saline
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Angion Biomedica Corp
Spinal Cord Injuries
Phase I/II Study of KP-100IT in Acute Spinal Cord Injury
This study is randomized, double-blind, placebo-controlled Phase I/II study designed to evaluate safety and efficacy of KP-100IT, code of Hepatocyte Growth Factor (HGF) formulation for intrathecal injection, as a treatment for…
- Trial name
- NCT02193334
- Testing
- KP-100IT
- Where
- 2 sites in Japan
- Volunteers
- 45 people
- Sponsor
- Kringle Pharma, Inc.
Parkinson's Disease (PD), Parkinson Disease 6, Early-Onset
Phase Ⅲ Clinical Trial to Evaluate the Efficacy and Safety of TJ0113 Capsules in Patients With Early-Onset Parkinson's Disease
This study is a randomized, double-blind, multicenter, placebo-controlled Phase III clinical trial designed to evaluate the efficacy, safety, and Pop PK characteristics of TJ0113 Capsules in treating EOPD patients.
- Trial name
- NCT07741045
- Testing
- TJ0113 200mg, TJ0113 400mg
- Where
- 21 sites in China
- Volunteers
- 300 people
- Sponsor
- Hangzhou PhecdaMed Co., Ltd.
Sensorineural Hearing Loss, Bilateral, AUNB1
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness
- Trial name
- Otoconex (NCT05402813)
- Testing
- Pure Tone Audiometry Assessment, Quality of Life Questionnaires
- Where
- France
- Volunteers
- 180 people
- Sponsor
- Sensorion
Glycogen Storage Disease
A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)
The main goal of this trial is to evaluate the safety and tolerability of mRNA-3745 via intravenous (IV) administration in adult and pediatric participants with GSD1a.
- Trial name
- NCT05095727
- Testing
- mRNA-3745
- Where
- 16 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- ModernaTX, Inc.
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Trial name
- ENERGY (NCT05734196)
- Testing
- INZ-701
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Inozyme Pharma
Stargardt Disease, Stargardt Macular Degeneration
Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease
The purpose of this study is to determine the long term safety and tolerability of ALK-001 (C20-D3-retinyl acetate), and to explore the effects of ALK-001 on the progression of Stargardt disease in patients between the ages of 8…
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Trial name
- TEASE (NCT02402660)
- Testing
- ALK-001
- Where
- 14 sites in United States
- Volunteers
- 160 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.