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Results for “Autosomal Recessive”

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Showing 20 of 0 results

Large-scale testing (Phase 3)Active Not RecruitingNCT06046820
What this trial is testing

The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency

Who this might be right for
Ectonucleotide Pyrophosphatase/Phosphodiesterase1 DeficiencyAutosomal Recessive Hypophosphatemic RicketsGeneralized Arterial Calcification of Infancy
Inozyme Pharma 27
Testing effectiveness (Phase 2)Active Not RecruitingNCT05095727
What this trial is testing

MRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)

Who this might be right for
Glycogen Storage Disease
ModernaTX, Inc. 15
Not applicableEnded earlyNCT01400542
What this trial is testing

Sleep Apnea in Early to Mid-Stage Alzheimer's Disease

Who this might be right for
Early Onset Alzheimer DiseaseAlzheimer DiseaseObstructive Sleep Apnea Syndromes
Centre Hospitalier Universitaire de Saint Etienne 22
Early research (Phase 1)Study completedNCT03096080
What this trial is testing

A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Who this might be right for
Polycystic Kidney, Autosomal Recessive
Kadmon Corporation, LLC 10
Testing effectiveness (Phase 2)Ended earlyNCT03738800
What this trial is testing

A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis

Who this might be right for
Lamellar Ichthyosis
Mayne Pharma International Pty Ltd 65
Large-scale testing (Phase 3)Not Yet RecruitingNCT07741045
What this trial is testing

Phase Ⅲ Clinical Trial to Evaluate the Efficacy and Safety of TJ0113 Capsules in Patients With Early-Onset Parkinson's Disease

Who this might be right for
Parkinson's Disease (PD)Parkinson Disease 6, Early-Onset
Hangzhou PhecdaMed Co., Ltd. 300
Not applicableEnrolling By InvitationNCT06144957
What this trial is testing

SLC13A5 Deficiency Natural History Study - United States Only

Who this might be right for
Citrate Transporter DeficiencyEpilepsyRare Diseases+7 more
TESS Research Foundation 17
Very early researchLooking for participantsNCT07066085
What this trial is testing

Serial Blood Count Study

Who this might be right for
Cyclic NeutropeniaCongenital NeutropeniaNeutropenia
University of Washington 20
Testing effectiveness (Phase 2)UnknownNCT01834664
What this trial is testing

Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years

Who this might be right for
Ataxic Infantile Cerebral Palsy
Chaitanya Hospital, Pune 100
Not applicableEnded earlyNCT00145587
What this trial is testing

Stem Cell Transplantation for Children Affected With Osteopetrosis

Who this might be right for
Osteopetrosis
St. Jude Children's Research Hospital 15
Not applicableActive Not RecruitingNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableLooking for participantsNCT05402813
What this trial is testing

Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

Who this might be right for
Sensorineural Hearing Loss, BilateralAUNB1DFNB1A+4 more
Sensorion 180
Not applicableStudy completedNCT05050669
What this trial is testing

Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency

Who this might be right for
Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyGeneralized Arterial Calcification of InfancyAutosomal Recessive Hypophosphatemic Rickets+1 more
Inozyme Pharma 12
Not applicableStudy completedNCT02355821
What this trial is testing

Comparative Effects of Moxonidine on Bone Metabolism, Vascular and Cellular Aging in Hypertensive Postmenopausal Women

Who this might be right for
OsteopeniaArterial Hypertension
National Research Center for Preventive Medicine 114
Not applicableActive Not RecruitingNCT03440697
What this trial is testing

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

Who this might be right for
AortopathiesThoracic Aortic AneurysmAortic Valve Disease+19 more
Yale University 3,000
Early research (Phase 1)Study completedNCT00008450
What this trial is testing

Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant

Who this might be right for
Adenosine Deaminase DeficiencyAutosomal Recessive DisorderImmune System Disorder+4 more
Fred Hutchinson Cancer Center 6
Early research (Phase 1)Ended earlyNCT04525352
What this trial is testing

A Trial to Evaluate Safety and Efficacy of RP-L401-0120 in Subjects With Infantile Malignant Osteopetrosis

Who this might be right for
Infantile Malignant Osteopetrosis
Rocket Pharmaceuticals Inc. 1
Testing effectiveness (Phase 2)Study completedNCT03181399
What this trial is testing

Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

Who this might be right for
GLUT1DS1EpilepsyGlut1 Deficiency Syndrome 1, Autosomal Recessive+4 more
University of Texas Southwestern Medical Center 45
Large-scale testing (Phase 3)WithdrawnNCT04786574
What this trial is testing

See if Tolvaptan Can Delay Dialysis in Infants and Children Who at Enrollment Are 28 Days to Less Than 12 Weeks Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Who this might be right for
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Otsuka Pharmaceutical Development & Commercialization, Inc.
Not applicableStudy completedNCT04126005
What this trial is testing

Natural History Study of Patients With Canavan Disease (CANinform Study)

Who this might be right for
Canavan Disease
Aspa Therapeutics 67
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